|
1
|
Shirvani M, Alipour M, Mortajez AR. IUGR ambiguous genitalia in Iran: a case report. J Med Case Rep 2025; 19:169. [PMID: 40211359 PMCID: PMC11983729 DOI: 10.1186/s13256-025-05214-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/11/2025] [Accepted: 03/27/2025] [Indexed: 04/14/2025] Open
Abstract
BACKGROUND Pericentric inversion of Chromosome 9 is a common chromosomal abnormality, occasionally linked to clinical conditions such as ambiguous genitalia, warranting its inclusion in differential diagnoses. Sexual ambiguity is a tragic and highly distressing condition that imposes deep emotional and spiritual concerns on the family. Therefore, it is essential to adopt a rational and immediate approach, including clinical, hormonal, genetic, molecular, and radiographic investigations, to determine its cause and guide the therapeutic strategy. CASE PRESENTATION A 35-year-old gravida 1 Iranian woman at 37 weeks of pregnancy delivered a 1900-g newborn via cesarean section due to intrauterine growth restriction. The newborn exhibited ambiguous genitalia, including severe hypospadias and a micropenis. Karyotyping revealed a normal chromosomal count with a pericentric inversion of Chromosome 9 (46XY, inv (9) (p12q13)). Hormonal and ultrasound evaluations were normal, and no family history of sexual development disorders was noted. CONCLUSION Pericentric inversion of Chromosome 9 can result in ambiguous genitalia, emphasizing the importance of karyotyping in the diagnostic evaluation for proper management and counseling.
Collapse
Affiliation(s)
- Mahsa Shirvani
- Department of Midwifery, Obstetrics and Gynecology, Vali-e-Asr Hospital, Kazerun, Iran
| | - Marzyeh Alipour
- Department of Genetics, Colleague of Science, Kazerun Branch, Islamic Azad University, Kazerun, 7319637777, Iran.
| | | |
Collapse
|
|
2
|
Didisa MK, Baye Y, Tamiru E, Mengesha G, Solbana LK, Yadeta TA. Trends in congenital anomalies and associated factors among newborns in Eastern Ethiopia: an 8-year open cohort analysis of the Kersa Health and Demographic Surveillance System. BMJ Open 2025; 15:e089984. [PMID: 39900415 PMCID: PMC11795409 DOI: 10.1136/bmjopen-2024-089984] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/13/2024] [Accepted: 12/30/2024] [Indexed: 02/05/2025] Open
Abstract
OBJECTIVE This study aimed to investigate the trends and factors associated with congenital anomalies (CAs) among newborns in Eastern Ethiopia from 2015 to 2022. DESIGN Open cohort study. SETTING The Kersa Health and Demographic Surveillance System (KHDSS), which is located in the Kersa district of the Oromia region in Eastern Ethiopia, covering 24 kebeles. POPULATION Newborns registered at birth in the database of the KHDSS site in Eastern Ethiopia. METHODS The KHDSS tracks demographic and health changes in the community. Newborn data were extracted using a checklist. Trends in CAs over time (in years) were analysed and the associated factors were identified through logistic regression analysis. OUTCOME MEASURE Newborn CAs, which are structural or functional abnormalities present at birth, were assessed through thorough physical examinations and detailed interviews conducted by trained data collectors using a standardised questionnaire. RESULTS Between 2015 and 2022, a total of 27 350 newborns were recorded in the KHDSS, 104 of whom had CAs. The overall rate of CAs was 3.83 per 1000 live births (95% CI 3.19, 4.61). There was a significant increase in the trend of CAs over the study period, with a Mantel-Haenszel χ2 of 82.76 (p=0.001). Factors associated with CA included maternal age over 35 years (adjusted OR (AOR)=1.68, 95% CI 1.07, 2.62), place of birth (AOR=2.04, 95% CI 1.04, 4.02) and normal birth weight (AOR=0.14, 95% CI 0.04, 0.47). CONCLUSION The data from the KHDSS revealed a rising trend in CAs. CA was associated with factors such as the mother's age, place of birth and the baby's birth weight. It is crucial for healthcare providers and stakeholders to consider these factors in efforts to reduce the prevalence of CAs.
Collapse
|
|
3
|
Popescu-Hobeanu G, Serban Sosoi S, Cucu M, Streață I, Dobrescu A, Pleșea R, Costache AL, Iordache A, Petre-Mandache B, Tudorache Ș, Comănescu A, Iliescu D, Burada F. The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments. MEDICINA (KAUNAS, LITHUANIA) 2024; 60:1778. [PMID: 39596963 PMCID: PMC11596323 DOI: 10.3390/medicina60111778] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 10/10/2024] [Revised: 10/26/2024] [Accepted: 10/29/2024] [Indexed: 11/29/2024]
Abstract
Background and Objectives: Recurrent pregnancy loss (RPL) is a multifactorial condition, encompassing genetic, anatomical, immunological, endocrine, as well as infectious and environmental factors; however, the etiology remains elusive in a substantial number of cases. Genetic factors linked to RPL include parental karyotype abnormalities (e.g., translocations, inversions, copy number variants), an increase in sperm aneuploidy, fetal microchimerism, severe skewing of X chromosome inactivation, and various gene polymorphisms. Our study aims to explore the value of routine conventional parental karyotyping in couples with RPL. Materials and Methods: A total of 213 couples (426 individuals) with a history of RPL were enrolled in this retrospective study. The peripheral blood samples included in this study were referred to the Human Genomics Laboratory of the University of Medicine and Pharmacy in Craiova, Romania, for conventional cytogenetic analysis between January 2013 and December 2023, by the Outpatient Medical Genetics Clinic of the Emergency Clinical County Hospital of Craiova. Chromosome analysis was performed using standard protocols and karyotypes were reported according to ISCN. Results: Out of 426 patients provided with conventional G-banded chromosome analysis, 410 had a normal karyotype (96.2%) and 16 had chromosome abnormalities (3.8%). The most common chromosomal abnormalities were reciprocal and Robertsonian translocations, with chromosomes 8, 11, 14, and 21 being most frequently involved. A single numerical anomaly was detected (47,XYY). One or multiple chromosomal polymorphisms were identified in 104 subjects (24.4%). In addition, we conducted a stratified analysis of the unselected group and detected chromosome abnormalities in only four cases (0.94%). Conclusions: Our results are consistent with recommendations for paternal karyotyping after an individual risk assessment in instances such as a previous live birth with congenital anomalies and/or the detection of unbalanced chromosomes or a translocation in product of conception or chorionic villi/amniotic fluid samples. In the absence of a positive history, blindly karyotyping couples may prove too expensive and labor intensive, while providing no information on fertility status or live birth rates.
Collapse
Affiliation(s)
- Gabriela Popescu-Hobeanu
- Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; (G.P.-H.); (A.I.); (B.P.-M.)
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania; (S.S.S.); (I.S.); (A.D.); (R.P.); (A.L.C.)
| | - Simona Serban Sosoi
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania; (S.S.S.); (I.S.); (A.D.); (R.P.); (A.L.C.)
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| | - Mihai Cucu
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania; (S.S.S.); (I.S.); (A.D.); (R.P.); (A.L.C.)
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| | - Ioana Streață
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania; (S.S.S.); (I.S.); (A.D.); (R.P.); (A.L.C.)
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| | - Amelia Dobrescu
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania; (S.S.S.); (I.S.); (A.D.); (R.P.); (A.L.C.)
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| | - Răzvan Pleșea
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania; (S.S.S.); (I.S.); (A.D.); (R.P.); (A.L.C.)
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| | - Anca Lelia Costache
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania; (S.S.S.); (I.S.); (A.D.); (R.P.); (A.L.C.)
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| | - Andreea Iordache
- Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; (G.P.-H.); (A.I.); (B.P.-M.)
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania; (S.S.S.); (I.S.); (A.D.); (R.P.); (A.L.C.)
| | - Bianca Petre-Mandache
- Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; (G.P.-H.); (A.I.); (B.P.-M.)
| | - Ștefania Tudorache
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; (Ș.T.); (A.C.); (D.I.)
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
| | - Alexandru Comănescu
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; (Ș.T.); (A.C.); (D.I.)
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
| | - Dominic Iliescu
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; (Ș.T.); (A.C.); (D.I.)
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
| | - Florin Burada
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania; (S.S.S.); (I.S.); (A.D.); (R.P.); (A.L.C.)
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| |
Collapse
|
|
4
|
Zhou X, He J, Wang A, Hua X, Li T, Liu Q, Fang J, Jiang Y, Shi Y. Fetal deaths from birth defects in Hunan Province, China, 2016-2020. Sci Rep 2024; 14:15163. [PMID: 38956101 PMCID: PMC11219750 DOI: 10.1038/s41598-024-65985-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2023] [Accepted: 06/26/2024] [Indexed: 07/04/2024] Open
Abstract
To describe the fetal death rate of birth defects (including a broad range of specific defects) and to explore the relationship between fetal deaths from birth defects and a broad range of demographic characteristics. Data was derived from the birth defects surveillance system in Hunan Province, China, 2016-2020. Fetal death refers to the intrauterine death of a fetus at any time during the pregnancy, including medical termination of pregnancy. Fetal death rate is the number of fetal deaths per 100 births (including live births and fetal deaths) in a specified group (unit: %). The fetal death rate of birth defects with 95% confidence intervals (CI) was calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the relationship between each demographic characteristic and fetal deaths from birth defects. This study included 847,755 births, and 23,420 birth defects were identified. A total of 11,955 fetal deaths from birth defects were identified, with a fetal death rate of 51.05% (95% CI 50.13-51.96). 15.78% (1887 cases) of fetal deaths from birth defects were at a gestational age of < 20 weeks, 59.05% (7059 cases) were at a gestational age of 20-27 weeks, and 25.17% (3009 cases) were at a gestational age of ≥ 28 weeks. Fetal death rate of birth defects was higher in females than in males (OR = 1.25, 95% CI 1.18-1.32), in rural than in urban areas (OR = 1.43, 95% CI 1.36-1.50), in maternal age 20-24 years (OR = 1.35, 95% CI 1.25-1.47), and ≥ 35 years (OR = 1.19, 95% CI 1.11-1.29) compared to maternal age of 25-29 years, in diagnosed by chromosomal analysis than ultrasound (OR = 6.24, 95% CI 5.15-7.55), and lower in multiple births than in singletons (OR = 0.41, 95% CI 0.36-0.47). The fetal death rate of birth defects increased with the number of previous pregnancies (χ2trend = 49.28, P < 0.01), and decreased with the number of previous deliveries (χ2trend = 4318.91, P < 0.01). Many fetal deaths were associated with birth defects. We found several demographic characteristics associated with fetal deaths from birth defects, which may be related to the severity of the birth defects, economic and medical conditions, and parental attitudes toward birth defects.
Collapse
Affiliation(s)
- Xu Zhou
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410000, Hunan Province, China
| | - Jian He
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410000, Hunan Province, China
| | - Aihua Wang
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410000, Hunan Province, China
| | - XinJun Hua
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410000, Hunan Province, China
| | - Ting Li
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410000, Hunan Province, China
| | - Qin Liu
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410000, Hunan Province, China
| | - Junqun Fang
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410000, Hunan Province, China
| | - Yurong Jiang
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410000, Hunan Province, China
| | - Yingrui Shi
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410000, Hunan Province, China.
| |
Collapse
|
|
5
|
Zhou X, Fang J, Wu Y, Gao J, Chen X, Wang A, Shu C. Risk factors for maternal near-miss in an undeveloped province in south-central China, 2012-2022. BMC Public Health 2024; 24:1526. [PMID: 38844895 PMCID: PMC11157777 DOI: 10.1186/s12889-024-18970-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/03/2023] [Accepted: 05/27/2024] [Indexed: 06/09/2024] Open
Abstract
OBJECTIVE To explore the risk factors for maternal near-miss (MNM) using the WHO near-miss approach. METHODS Data were obtained from the Maternal Near-Miss Surveillance System in Hunan Province, China, 2012-2022. Multivariate logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (aORs) were used to identify risk factors for MNM. RESULTS Our study included 780,359 women with 731,185 live births, a total of 2461 (0.32%) MNMs, 777,846 (99.68%) non-MNMs, and 52 (0.006%) maternal deaths were identified. The MNM ratio was 3.37‰ (95%CI: 3.23-3.50). Coagulation/hematological dysfunction was the most common cause of MNM (75.66%). Results of multivariate logistic regression analysis showed risk factors for MNM: maternal age > = 30 years old (aOR > 1, P < 0.05), unmarried women (aOR = 2.21, 95%CI: 1.71-2.85), number of pregnancies > = 2 (aOR > 1, P < 0.05), nulliparity (aOR = 1.51, 95%CI: 1.32-1.72) or parity > = 3 (aOR = 1.95, 95%CI: 1.50-2.55), prenatal examinations < 5 times (aOR = 1.13, 95%CI: 1.01-1.27), and number of cesarean sections was 1 (aOR = 1.83, 95%CI: 1.64-2.04) or > = 2 (aOR = 2.48, 95%CI: 1.99-3.09). CONCLUSION The MNM ratio was relatively low in Hunan Province. Advanced maternal age, unmarried status, a high number of pregnancies, nulliparity or high parity, a low number of prenatal examinations, and cesarean sections were risk factors for MNM. Our study is essential for improving the quality of maternal health care and preventing MNM.
Collapse
Affiliation(s)
- Xu Zhou
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, China
| | - Junqun Fang
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, China
| | - Yinglan Wu
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, China.
| | - Jie Gao
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, China
| | - Xiaoying Chen
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, China.
| | - Aihua Wang
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, China
| | - Chuqiang Shu
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, China
| |
Collapse
|
|
6
|
Zhou X, He J, Wang A, Hua X, Li T, Shu C, Fang J. Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data. BMC Public Health 2024; 24:1037. [PMID: 38622560 PMCID: PMC11017609 DOI: 10.1186/s12889-024-18420-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/04/2023] [Accepted: 03/22/2024] [Indexed: 04/17/2024] Open
Abstract
OBJECTIVE To explore risk factors for birth defects (including a broad range of specific defects). METHODS Data were derived from the Population-based Birth Defects Surveillance System in Hunan Province, China, 2014-2020. The surveillance population included all live births, stillbirths, infant deaths, and legal termination of pregnancy between 28 weeks gestation and 42 days postpartum. The prevalence of birth defects (number of birth defects per 1000 infants) and its 95% confidence interval (CI) were calculated. Multivariate logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify risk factors for birth defects. We used the presence or absence of birth defects (or specific defects) as the dependent variable, and eight variables (sex, residence, number of births, paternal age, maternal age, number of pregnancies, parity, and maternal household registration) were entered as independent variables in multivariate logistic regression analysis. RESULTS Our study included 143,118 infants, and 2984 birth defects were identified, with a prevalence of 20.85% (95%CI: 20.10-21.60). Multivariate logistic regression analyses showed that seven variables (except for parity) were associated with birth defects (or specific defects). There were five factors associated with the overall birth defects. The risk factors included males (OR = 1.49, 95%CI: 1.39-1.61), multiple births (OR = 1.44, 95%CI: 1.18-1.76), paternal age < 20 (OR = 2.20, 95%CI: 1.19-4.09) or 20-24 (OR = 1.66, 95%CI: 1.42-1.94), maternal age 30-34 (OR = 1.16, 95%CI: 1.04-1.29) or > = 35 (OR = 1.56, 95%CI: 1.33-1.81), and maternal non-local household registration (OR = 2.96, 95%CI: 2.39-3.67). Some factors were associated with the specific defects. Males were risk factors for congenital metabolic disorders (OR = 3.86, 95%CI: 3.15-4.72), congenital limb defects (OR = 1.34, 95%CI: 1.14-1.58), and congenital kidney and urinary defects (OR = 2.35, 95%CI: 1.65-3.34). Rural areas were risk factors for congenital metabolic disorders (OR = 1.21, 95%CI: 1.01-1.44). Multiple births were risk factors for congenital heart defects (OR = 2.09, 95%CI: 1.55-2.82), congenital kidney and urinary defects (OR = 2.14, 95%CI: 1.05-4.37), and cleft lip and/or palate (OR = 2.85, 95%CI: 1.32-6.15). Paternal age < 20 was the risk factor for congenital limb defects (OR = 3.27, 95%CI: 1.10-9.71), 20-24 was the risk factor for congenital heart defects (OR = 1.64, 95%CI: 1.24-2.17), congenital metabolic disorders (OR = 1.56, 95%CI: 1.11-2.21), congenital limb defects (OR = 1.61, 95%CI: 1.14-2.29), and congenital ear defects (OR = 2.13, 95%CI: 1.17-3.89). Maternal age < 20 was the risk factor for cleft lip and/or palate (OR = 3.14, 95%CI: 1.24-7.95), 30-34 was the risk factor for congenital limb defects (OR = 1.37, 95%CI: 1.09-1.73), >=35 was the risk factor for congenital heart defects (OR = 1.51, 95%CI: 1.14-1.99), congenital limb defects (OR = 1.98, 95%CI: 1.41-2.78), and congenital ear defects (OR = 1.82, 95%CI: 1.06-3.10). Number of pregnancies = 2 was the risk factor for congenital nervous system defects (OR = 2.27, 95%CI: 1.19-4.32), >=4 was the risk factor for chromosomal abnormalities (OR = 2.03, 95%CI: 1.06-3.88) and congenital nervous system defects (OR = 3.03, 95%CI: 1.23-7.47). Maternal non-local household registration was the risk factor for congenital heart defects (OR = 3.57, 95%CI: 2.54-5.03), congenital metabolic disorders (OR = 1.89, 95%CI: 1.06-3.37), congenital limb defects (OR = 2.94, 95%CI: 1.86-4.66), and congenital ear defects (OR = 3.26, 95%CI: 1.60-6.65). CONCLUSION In summary, several risk factors were associated with birth defects (including a broad range of specific defects). One risk factor may be associated with several defects, and one defect may be associated with several risk factors. Future studies should examine the mechanisms. Our findings have significant public health implications as some factors are modifiable or avoidable, such as promoting childbirths at the appropriate age, improving the medical and socio-economic conditions of non-local household registration residents, and devoting more resources to some specific defects in high-risk groups, which may help reducing birth defects in China.
Collapse
Affiliation(s)
- Xu Zhou
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, 410000, China
| | - Jian He
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, 410000, China
| | - Aihua Wang
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, 410000, China
| | - Xinjun Hua
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, 410000, China
| | - Ting Li
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, 410000, China
| | - Chuqiang Shu
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, 410000, China.
| | - Junqun Fang
- Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan Province, 410000, China.
| |
Collapse
|
|
7
|
Ali Khazaei H, Farzaneh F, Sarhadi S, Dehghan Haghighi J, Forghani F, Sheikhi V, Khazaei B, Asadollahi L. Comparison of serum levels of interleukin 33 in combination with serum levels of C-reactive protein, Immunoglobulin G, Immunoglobulin A, and Immunoglobulin M in recurrent pregnancy loss: A case-control study. Int J Reprod Biomed 2024; 22:317-322. [PMID: 39035635 PMCID: PMC11255461 DOI: 10.18502/ijrm.v22i4.16392] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/16/2023] [Revised: 06/19/2023] [Accepted: 08/12/2023] [Indexed: 07/23/2024] Open
Abstract
Background One of the critical cases of recurrent pregnancy loss is immunological factors, whereas obtaining effective prevention or treatment is necessary for cognition of reasons. Objective In this study, we tried to evaluate some immunological factors related to recurrent pregnancy loss. Materials and Methods This case-control study was conducted on 66 women at the age of 18-35 yr who were referred to the Clinic of Gynecology and Obstetrics, Ali Ibn Abi Taleb hospital, Zahedan, Iran, from August-December 2019. Interleukin 33 (IL-33) serum levels were measured using enzyme-linked immunosorbent assay. Immunoglobulin G, Immunoglobulin A, Immunoglobulin M (IgM), and C-reactive protein levels were measured by serology and hematology methods. Results The mean age of total participants was 30.8 ± 3.80 yr. The mean serum IL-33 in the case group was 318.5 ± 254.1 pg/ml and was lower than the control group (354.2 ± 259.9 pg/ml), which was not statistically significant (p = 0.52). The level of C-reactive protein in the case and control was not significantly different (p = 0.27), and Immunoglobulin A and Immunoglobulin G in the case and control were also not significantly different (p = 0.46, and p = 0.16, respectively), but there were significant differences (p = 0.003) between the level of the IgM in the case and control groups. Conclusion No statistically significant difference was observed in the IL-33 serum level, for at least 4-6 months after the last abortion in the case group and the final live birth in the control group. In contrast, serum levels of IgM were statistically significant. Finally, the need for more studies is felt according to the different results of the previous studies in this field.
Collapse
Affiliation(s)
- Hossein Ali Khazaei
- Clinical Immunology Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
| | - Farahnaz Farzaneh
- Department of Obstetrics and Gynecology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
| | - Saeedeh Sarhadi
- Health Promotion Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
- Department of Community Medicine, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
| | - Javid Dehghan Haghighi
- Department of Community Medicine, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
| | - Forough Forghani
- Department of Obstetrics and Gynecology, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
| | - Vahid Sheikhi
- Department of Pediatrics, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
| | - Bahman Khazaei
- School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
| | - Lida Asadollahi
- School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
| |
Collapse
|
|
8
|
Xia S, Meng C, Cheng X, Wang D, Wu Y, Li Z, Wei Y, Liu J. Trends in the Prevalence of Births with Chromosomal Abnormalities - Haidian District, Beijing Municipality, China, 2013-2022. China CDC Wkly 2023; 5:791-796. [PMID: 37771627 PMCID: PMC10527403 DOI: 10.46234/ccdcw2023.152] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/11/2023] [Accepted: 09/01/2023] [Indexed: 09/30/2023] Open
Abstract
What is already known about this topic? The primary causes of early miscarriage and stillbirth are chromosomal abnormalities (CAs) whose prevalence has been observed to increase in recent years. What is added by this report? According to data received from a hospital-based birth-defect surveillance system in the Haidian District, Beijing, there was a significant increase in the prevalence of CAs along with most subtypes from 2013 to 2022. This noted increase in the reported prevalence is potentially attributable to factors such as a rise in maternal age, alongside the enhanced detection efficacy resulting from the utilization of noninvasive prenatal testing. What are the implications for public health practice? The escalating prevalence of sex CAs and other previously rare CAs pose novel challenges for genetic counseling and healthcare practitioners. These professionals are tasked with the accurate evaluation and interpretation of detection data, which must then be conveyed appropriately to patients. Furthermore, it is imperative to intensify health education efforts to assist women in making informed treatment decisions, considering the diverse prognoses associated with different CAs.
Collapse
Affiliation(s)
- Shuangbo Xia
- Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China
- Institute of Reproductive and Child Health / National Health Commission Key Laboratory of Reproductive Health, Peking University, Beijing, China
| | - Chao Meng
- Department of Maternal Health Care, Beijing Haidian Maternal and Child Health Hospital, Beijing, China
| | - Xiao Cheng
- Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China
- Institute of Reproductive and Child Health / National Health Commission Key Laboratory of Reproductive Health, Peking University, Beijing, China
| | - Duoduo Wang
- Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China
- Institute of Reproductive and Child Health / National Health Commission Key Laboratory of Reproductive Health, Peking University, Beijing, China
| | - Yaxian Wu
- Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China
- Institute of Reproductive and Child Health / National Health Commission Key Laboratory of Reproductive Health, Peking University, Beijing, China
| | - Zhiwen Li
- Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China
- Institute of Reproductive and Child Health / National Health Commission Key Laboratory of Reproductive Health, Peking University, Beijing, China
| | - Yuan Wei
- Department of Gynaecology and Obstetrics, Peking University Third Hospital, Beijing, China
| | - Jufen Liu
- Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China
- Institute of Reproductive and Child Health / National Health Commission Key Laboratory of Reproductive Health, Peking University, Beijing, China
| |
Collapse
|
|
9
|
Trends in the prevalence, prenatal diagnosis, and outcomes of births with chromosomal abnormalities: a hospital-based study in Zhejiang Province, China during 2014-2020. Orphanet J Rare Dis 2022; 17:446. [PMID: 36550515 PMCID: PMC9783762 DOI: 10.1186/s13023-022-02594-1] [Citation(s) in RCA: 7] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/02/2022] [Accepted: 12/07/2022] [Indexed: 12/24/2022] Open
Abstract
BACKGROUND To investigate the prevalence and prenatal diagnosis rate of chromosomal abnormalities (CA) in Zhejiang Province, China. METHODS We estimated the annual changes in the detected prevalence of CA and prenatal diagnosis rate among 681,590 births in Zhejiang Province, China, between 2014 and 2020. Data were derived from the provincial birth defects surveillance system, which represents 30% of annual births in Zhejiang Province. The effect of maternal age was also evaluated. RESULTS The detected prevalence of sex chromosomal abnormalities (1.70-7.30 per 10,000 births, Ptrend < 0.001) and microdeletion and microduplication (0.30-6.81 per 10,000 births, Ptrend < 0.001) gradually increased, contributing to an upward trend in overall CA (12.09-39.22 per 10,000 births). The diagnosis rate before 22 gestational weeks constantly increased from 20.8 to 70.1% for trisomy 21 (Ptrend = 0.003). The prevalence rate ratio for maternal age of ≥ 35 years was higher than that for maternal age of 25-29 years for trisomy 21 (5.40, 95% confidence interval [CI] 4.59-6.35) and sex chromosomal abnormalities (3.28, 95% CI 2.48-4.33). CONCLUSIONS The rising prevalence of CA in China may be attributable to the elevated maternal age and the innovation of prenatal diagnosis tools, Thus, studies should pay attention to the rare CA that were previously ignored, and select rational screening tools.
Collapse
|
|
10
|
Andó S, Koczok K, Bessenyei B, Balogh I, Ujfalusi A. Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study. Genes (Basel) 2022; 13:2086. [PMID: 36360324 PMCID: PMC9690888 DOI: 10.3390/genes13112086] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/26/2022] [Revised: 11/04/2022] [Accepted: 11/05/2022] [Indexed: 01/03/2024] Open
Abstract
Chromosome abnormalities play a crucial role in reproductive failure. The presence of numerical or structural aberrations may induce recurrent pregnancy loss or primary infertility. The main purpose of our study was to determine the types and frequency of chromosomal aberrations in infertile patients and to compare the frequency of structural aberrations to a control group. Karyotyping was performed in 1489 men and 780 women diagnosed with reproductive failure between 2010 and 2020. The control group included 869 male and 1160 female patients having cytogenetic evaluations for reasons other than infertility. Sex chromosomal aberrations were detected in 33/1489 (2.22%) infertile men and 3/780 (0.38%) infertile women. Structural abnormalities (e.g., translocation, inversion) were observed in 89/1489 (5.98%) infertile men and 58/780 (7.44%) infertile women. The control population showed structural chromosomal abnormalities in 27/869 (3.11%) men and 39/1160 (3.36%) women. There were significant differences in the prevalence of single-cell translocations between infertile individuals (males: 3.5%; females: 3.46%) and control patients (males: 0.46%; females: 0.7%). In summary, this is the first report of cytogenetic alterations in infertile patients in Hungary. The types of chromosomal abnormalities were comparable to previously published data. The prevalence of less-studied single-cell translocations was significantly higher in infertile patients than in the control population, supporting an earlier suggestion that these aberrations may be causally related to infertility.
Collapse
Affiliation(s)
- Szilvia Andó
- Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
| | - Katalin Koczok
- Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
| | - Beáta Bessenyei
- Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
| | - István Balogh
- Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
- Department of Human Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
| | - Anikó Ujfalusi
- Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
| |
Collapse
|
|
11
|
Li S, Zheng PS, Ma HM, Feng Q, Zhang YR, Li QS, He JJ, Liu WF. Systematic review of subsequent pregnancy outcomes in couples with parental abnormal chromosomal karyotypes and recurrent pregnancy loss. Fertil Steril 2022; 118:906-914. [PMID: 36175209 DOI: 10.1016/j.fertnstert.2022.08.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/25/2021] [Revised: 07/24/2022] [Accepted: 08/08/2022] [Indexed: 01/13/2023]
Abstract
OBJECTIVE To evaluate the current evidence of pregnancy outcomes among couples with recurrent pregnancy loss (RPL) with abnormal karyotypes vs. those with normal karyotypes and among couples with RPL and abnormal karyotypes after receiving expectant management vs. preimplantation genetic diagnosis (PGD). DESIGN Systematic review and meta-analysis. SETTING Academic medical centers. PATIENT(S) Pregnancy outcomes in 6,301 couples with RPL who conceived without medical intervention in 11 studies were analyzed. However, only 2 studies addressed the outcomes of couples with RPL and abnormal karyotypes after expectant management (75 cases) vs. PGD (50 cases). INTERVENTION(S) None. MAIN OUTCOME MEASURE(S) The pregnancy outcomes in couples with RPL with abnormal and normal karyotypes across included studies were evaluated. RESULT(S) Compared with those with a normal karyotype, a significantly lower first pregnancy live birth rate (LBR) was found in couples with RPL with abnormal karyotypes (58.5% vs. 71.9%; odds ratio [OR], 0.55; 95% confidence interval [CI], 0.46-0.65; I2 =27%). A markedly decreased first pregnancy LBR was found in couples with a translocation (52.9% vs. 72.4%; OR, 0.44; 95% CI, 0.31-0.61; I2 =33%) but not in couples with an inversion. However, the differences in accumulated LBR (81.4% vs. 74.8%; OR, 0.96; 95% CI, 0.90-1.03; I2 = 0) were nonsignificant, whereas the miscarriage rate was distinctly higher in couples with RPL and abnormal karyotypes (53.0% vs. 34.7%; OR, 2.21; 95% CI, 1.69-2.89; I2 = 0). Compared with those who chose expectant management, differences in accumulated LBR were nonsignificant (60% vs. 68%; OR, 0.55; 95% CI, 0.11-2.62; I2 =71%), whereas the miscarriage rate (24% vs. 65.3%; OR, 0.15; 95% CI, 0.04-0.51; I2 = 45) was markedly low in couples with RPL and abnormal karyotypes who chose PGD. CONCLUSION(S) Couples with RPL and abnormal karyotypes had a higher miscarriage rate than couples with normal karyotypes but achieved a noninferior accumulated LBR through multiple conception attempts. In couples with RPL and abnormal karyotypes, PGD treatment did not increase the accumulated LBR but markedly reduced miscarriage rate compared with expectant management.
Collapse
Affiliation(s)
- Shan Li
- Department of Reproductive Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Shaanxi, Xi'an, People's Republic of China
| | - Peng-Sheng Zheng
- Department of Reproductive Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Shaanxi, Xi'an, People's Republic of China; Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education of the People's Republic of China, Shaanxi, Xi'an, People's Republic of China.
| | - Hong Mei Ma
- Department of Reproductive Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Shaanxi, Xi'an, People's Republic of China
| | - Qian Feng
- Department of Reproductive Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Shaanxi, Xi'an, People's Republic of China
| | - Yan Ru Zhang
- Department of Reproductive Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Shaanxi, Xi'an, People's Republic of China
| | - Qin Shu Li
- Department of Reproductive Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Shaanxi, Xi'an, People's Republic of China
| | - Jing Jing He
- Department of Reproductive Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Shaanxi, Xi'an, People's Republic of China
| | - Wen Fang Liu
- Department of Reproductive Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Shaanxi, Xi'an, People's Republic of China
| |
Collapse
|
|
12
|
Demirhan O, Tunç E. Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients. Chromosoma 2022; 131:225-237. [PMID: 36219240 DOI: 10.1007/s00412-022-00782-3] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/17/2022] [Revised: 09/22/2022] [Accepted: 09/26/2022] [Indexed: 11/29/2022]
Abstract
Cytogenetic analysis is helpful in diagnostic workup of patients having prenatal or early postnatal medical problems and provides a basis for genetic counseling or deciding on clinical treatment options. Chromosomal abnormalities (CAs) constitute one of the most important category of genetic defects which have the potential to cause irreversible disorders. In this study, chromosome analysis results of 11,420 patients having congenital malformations or suspected of having chromosomal abnormalities, who were referred to Çukurova University Research and Training Hospital Cytogenetic Laboratory over a 16-year period, were investigated, retrospectively. Of all patients analyzed, CAs were found in 1768 cases, accounting for 15.5% of all cases. It was observed that 1175 (15.5%) of CAs were numerical (10.3%) and 593 (5.2%) were structural chromosome abnormalities. Among numerical CAs, Down syndrome (DS), Turner syndrome (TS) and Klinefelter syndrome (KS) constituted common categories which were observed in 7, 1.1 and 0.9% of all cases, respectively. Among the structural CAs, translocations, inversions, fragilities, deletions,, and others were the most common categories and constituted 2.2, 0.9, 0.9, 0.7, 0.3, and 0.3% of all cases, respectively. The sex ratio (male/female) of all cases was 1.01 and of DS cases was 1.6. Our results further confirmed that cytogenetic analysis is necessary in terms of making definite diagnosis of genetic disorders, providing proper genetic counseling and clinical treatment, assessing the recurrence risk, and preventing the hereditary genetic diseases and disorders. Besides, such studies will greatly assist in constituting national and international databases or records of genetic disorders.
Collapse
Affiliation(s)
- Osman Demirhan
- Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Balcali-Adana, Turkey.
| | - Erdal Tunç
- Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Balcali-Adana, Turkey
| |
Collapse
|
|
13
|
The spectrum of chromosomal translocations in the Arab world: ethnic-specific chromosomal translocations and their relevance to diseases. Chromosoma 2022; 131:127-146. [PMID: 35907041 PMCID: PMC9470631 DOI: 10.1007/s00412-022-00775-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2022] [Revised: 05/13/2022] [Accepted: 06/23/2022] [Indexed: 11/04/2022]
Abstract
Chromosomal translocations (CTs) are the most common type of structural chromosomal abnormalities in humans. CTs have been reported in several studies in the Arab world, but the frequency and spectrum of these translocations are not well characterized. The aim of this study is to conduct a systematic review to estimate the frequency and spectrum of CTs in the 22 Arab countries. Four literature databases were searched: PubMed, Science Direct, Scopus, and Web of Science, from the time of inception until July 2021. A combination of broad search terms was used to collect all possible CTs reported in the Arab world. In addition to the literature databases, all captured CTs were searched in three chromosomal rearrangement databases (Mitelman Database, CytoD 1.0 Database, and the Atlas of Genetics and Cytogenetics in Oncology and Hematology), along with PubMed and Google Scholar, to check whether the CTs are unique to the Arabs or shared between Arabs and non-Arabs. A total of 9,053 titles and abstracts were screened, of which 168 studies met our inclusion criteria, and 378 CTs were identified in 15 Arab countries, of which 57 CTs were unique to Arab patients. Approximately 89% of the identified CTs involved autosomal chromosomes. Three CTs, t(9;22), t(13;14), and t(14;18), showed the highest frequency, which were associated with hematological malignancies, recurrent pregnancy loss, and follicular lymphoma, respectively. Complex CTs were commonly reported among Arabs, with a total of 44 CTs, of which 12 were unique to Arabs. This is the first study to focus on the spectrum of CTs in the Arab world and compressively map the ethnic-specific CTs relevant to cancer. It seems that there is a distinctive genotype of Arabs with CTs, of which some manifested with unique clinical phenotypes. Although ethnic-specific CTs are highly relevant to disease mechanism, they are understudied and need to be thoroughly addressed.
Collapse
|
|
14
|
Xi H, Qiu L, Yao Y, Luo L, Sui L, Fu Y, Weng Q, Wang J, Zhao J, Zhao Y. Noninvasive Chromosome Screening for Evaluating the Clinical Outcomes of Patients With Recurrent Pregnancy Loss or Repeated Implantation Failure. Front Endocrinol (Lausanne) 2022; 13:896357. [PMID: 35800428 PMCID: PMC9253989 DOI: 10.3389/fendo.2022.896357] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/15/2022] [Accepted: 05/16/2022] [Indexed: 12/02/2022] Open
Abstract
This retrospective cohort study explores whether noninvasive chromosome screening (NICS) for aneuploidy can improve the clinical outcomes of patients with recurrent pregnancy loss (RPL) or repeated implantation failure (RIF) in assisted reproductive technology. A total of 273 women with a history of RPL or RIF between 2018 and 2021 were included in this study. We collected data of all oocyte retrieval cycles and single blastocyst resuscitation transfer cycles. For the patients experiencing RPL, NICS reduced the miscarriages rate per frozen embryo transfer (FET), improved the ongoing pregnancies rate and live birth rate: 17.9% vs 42.6%, adjusted OR 0.39, 95% CI 0.16-0.95; 40.7% vs 25.0%, adjusted OR 2.00, 95% CI 1.04-3.82; 38.9% vs 20.6%, adjusted OR 2.53, 95% CI 1.28-5.02, respectively. For the patients experiencing RIF, the pregnancy rates per FET in the NICS group were significantly higher than those in the non-NICS group (46.9% vs. 28.7%, adjusted OR 2.82, 95% CI 1.20-6.66). This study demonstrated that the selection of euploid embryos through NICS can reduce the miscarriage rate of patients experiencing RPL and improve the clinical pregnancy rate of patients experiencing RIF. Our data suggested NICS could be considered as a possibly useful screening test in clinical practice.
Collapse
Affiliation(s)
- Haitao Xi
- Department of Pharmaceutics, School of Pharmaceutical Sciences, Wenzhou Medical University, Wenzhou, China
- Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
| | - Lin Qiu
- Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
| | - Yaxin Yao
- Department of Clinical Research, Yikon Genomics, Suzhou, China
| | - Lanzi Luo
- Department of Pharmaceutics, School of Pharmaceutical Sciences, Wenzhou Medical University, Wenzhou, China
| | - Liucai Sui
- Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
| | - Yanghua Fu
- Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
| | - Qiuyi Weng
- Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
| | - Jing Wang
- Department of Clinical Research, Yikon Genomics, Suzhou, China
| | - Junzhao Zhao
- Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
| | - Yingzheng Zhao
- Department of Pharmaceutics, School of Pharmaceutical Sciences, Wenzhou Medical University, Wenzhou, China
| |
Collapse
|
|
15
|
Tunç E, Ilgaz S. Robertsonian translocation (13;14) and its clinical manifestations: A literature review. Reprod Biomed Online 2022; 45:563-573. [PMID: 35810081 DOI: 10.1016/j.rbmo.2022.05.019] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/28/2021] [Revised: 04/06/2022] [Accepted: 05/25/2022] [Indexed: 10/18/2022]
|
|
16
|
Amat L, Morel O, Diligent C, Bonnet C, Agopiantz M. [Systematic karyotyping before ICSI: A necessary procedure? Analysis of case studies in the Nancy University Hospital Fertility Centre]. GYNECOLOGIE, OBSTETRIQUE, FERTILITE & SENOLOGIE 2022; 50:314-321. [PMID: 34990881 DOI: 10.1016/j.gofs.2021.12.012] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/10/2021] [Revised: 11/30/2021] [Accepted: 12/19/2021] [Indexed: 06/14/2023]
Abstract
INTRODUCTION A constitutional karyotype is often assayed for the couple before ICSI management. The objective of this study was to assess the prevalence of chromosomal abnormality in an infertile population, the impact on the care of couples and its cost. METHODS A single-center retrospective study was carried out at the Fertility Center of the University Hospital of Nancy, including all infertile couples who underwent a karyotype analysis from June 2009 to December 2016. RESULTS 1252 couples were included. 7.9% had at least one abnormal karyotype. A change in care affected 22% of these couples, i.e. 1.7% of the total population. 9% of couples with karyotype abnormality underwent PGD. In the male population, the percentage of abnormal spermograms is significantly higher in the group with karyotype abnormality compared to the control group (85.7% vs. 46.5%, P<0.001). DISCUSSION The constitutional karyotype, due to its high economic and human cost, and limited interest, is a screening method for chromosomal abnormalities that has no place systematically before performing IVF. The future lies in the restriction of the indications for prescribing the karyotype as well as in the realization of PGS in targeted situations.
Collapse
Affiliation(s)
- L Amat
- Service de médecine de la reproduction, CHRU de Nancy-site maternité, université de Lorraine, 10, rue du Dr-Heydenreich, 54000 Nancy, France; Service de gynécologie médicale, CHRU de Nancy, université de Lorraine, Nancy, France
| | - O Morel
- Service de gynécologie-obstétrique, CHRU de Nancy, université de Lorraine, Nancy, France
| | - C Diligent
- Laboratoire de biologie de la reproduction, CHRU de Nancy, université de Lorraine, Nancy, France
| | - C Bonnet
- Laboratoire de génétique, CHRU de Nancy, université de Lorraine, Vandœuvre-lès-Nancy, France; Inserm U1256, université de Lorraine, Vandœuvre-lès-Nancy, France
| | - M Agopiantz
- Service de médecine de la reproduction, CHRU de Nancy-site maternité, université de Lorraine, 10, rue du Dr-Heydenreich, 54000 Nancy, France; Inserm U1256, université de Lorraine, Vandœuvre-lès-Nancy, France.
| |
Collapse
|
|
17
|
Khamees DA, Al-Ouqaili MTS. Cross-sectional study of chromosomal aberrations and immunologic factors in Iraqi couples with recurrent pregnancy loss. PeerJ 2022; 10:e12801. [PMID: 35186454 PMCID: PMC8830330 DOI: 10.7717/peerj.12801] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/25/2021] [Accepted: 12/24/2021] [Indexed: 01/10/2023] Open
Abstract
BACKGROUND Parental chromosomal aberrations are important causes of recurrent pregnancy loss (RPL). Some immunological factors such as antiphospholipid antibodies and interleukin-6 (IL-6) also contribute to this complication. The aim of this study was to determine the frequency of chromosomal abnormalities and to evaluate some of the immunological factors in couples with RPL from different cities in Iraq. METHODS This study was conducted on 25 couples (50 individuals) who had more than two first trimester abortions in the past and 25 healthy females as controls. Karyotyping was performed on peripheral blood of all participants. Anticardiolipin (IgG and IgM), antiphosopholipid (IgG and IgM), lupus anticoagulant, and IL-6 were assayed. Data were analyzed using appropriate statistical tests. RESULTS Chromosomal abnormalities were found in 28.0% (n = 7/25) of RPL couples. Of these five (10.0%) were female and two (4.0%) were male. The types of structural abnormalities were as follows: 45, XX, t(21; 21); 45, XX, rob (14, 15); 46, XX, add (21) (p13); 46 XY, add (21)(p13); 46, XX, 21ps+; 46, XY, per inv (9) (p11q12) and 45, XX, t(13q, 13q). No chromosomal abnormalities were found in the control group. Also, no significant differences were found in the immunological parameters of the couples with RPL and the control group. CONCLUSION In this study, karyotyping revealed a high number of chromosomal abnormalities associated with the RPL in Iraqi couples. Since identification of genetic causes of miscarriage is important for genetic counseling and educating couples about the risk of future pregnancies, it is recommended that conventional karyotyping be investigated in patients with RPL.
Collapse
Affiliation(s)
- Doaa A. Khamees
- Department of Microbiology, College of Medicine, University of Anbar, Al-Anbar Governorate, Ramadi, Iraq
| | - Mushtak T. S. Al-Ouqaili
- Department of Microbiology, College of Medicine, University of Anbar, Al-Anbar Governorate, Ramadi, Iraq
| |
Collapse
|
|
18
|
Huang Y, Hao J, Liao Y, Zhou L, Wang K, Zou H, Hu Y, Li J. Transcriptome sequencing identified the ceRNA network associated with recurrent spontaneous abortion. BMC Med Genomics 2021; 14:278. [PMID: 34814929 PMCID: PMC8609870 DOI: 10.1186/s12920-021-01125-4] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/25/2020] [Accepted: 11/09/2021] [Indexed: 02/07/2023] Open
Abstract
Background Recurrent spontaneous abortion (RSA) is one of the common complication of pregnancy, bringing heavy burden to the patients and their families. The study aimed to explore the lncRNA-miRNA-mRNA network associated with recurrent spontaneous abortion. Methods By transcriptome sequencing, we detected differences in lncRNA, miRNA and mRNA expression in villus tissue samples collected from 3 patients with RSA and 3 normal abortion patients. Differentially expressed lncRNAs, miRNAs and genes (DELs, DEMs and DEGs, respectively) were identified, and Geno Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were used to determine the functions of DELs and DEGs, which were analysed by Fisher’s test. We also observed the regulatory relationships between miRNA-mRNA and lncRNA-miRNA by Cytoscape 3.6.1. Results The results showed that 1008 DELs (523 upregulated and 485 downregulated), 475 DEGs (201 upregulated and 274 downregulated) and 37 DEMs (15 upregulated and 22 downregulated) were identified. And we also constructed a novel lncRNA-related ceRNA network containing 31 lncRNAs, 1 miRNA (hsa-miR-210-5p) and 3 genes (NTNG2, GRIA1 and AQP1). Conclusions lncRNA-related ceRNA network containing 31 lncRNAs, 1 miRNA (hsa-miR-210-5p) and 3 mRNAs (NTNG2, GRIA1 and AQP1) was constructed. The results may provide a basic theory for elucidating the mechanism underlying RSA. Supplementary Information The online version contains supplementary material available at 10.1186/s12920-021-01125-4.
Collapse
Affiliation(s)
- Yong Huang
- Department of Reproductive Medicine, The Second Affiliated Hospital of Hainan Medical University, No. 368, Yehai Avenue, Haikou, 570311, Hainan, People's Republic of China
| | - Jiayuan Hao
- Department of Reproductive Medicine, The Second Affiliated Hospital of Hainan Medical University, No. 368, Yehai Avenue, Haikou, 570311, Hainan, People's Republic of China
| | - Yuan Liao
- Department of Reproductive Medicine, The Second Affiliated Hospital of Hainan Medical University, No. 368, Yehai Avenue, Haikou, 570311, Hainan, People's Republic of China
| | - Lihua Zhou
- Department of Reproductive Medicine, The Second Affiliated Hospital of Hainan Medical University, No. 368, Yehai Avenue, Haikou, 570311, Hainan, People's Republic of China
| | - Kaiju Wang
- Department of Reproductive Medicine, The Second Affiliated Hospital of Hainan Medical University, No. 368, Yehai Avenue, Haikou, 570311, Hainan, People's Republic of China
| | - Hui Zou
- Department of Reproductive Medicine, The Second Affiliated Hospital of Hainan Medical University, No. 368, Yehai Avenue, Haikou, 570311, Hainan, People's Republic of China
| | - Ying Hu
- Department of Reproductive Medicine, The Second Affiliated Hospital of Hainan Medical University, No. 368, Yehai Avenue, Haikou, 570311, Hainan, People's Republic of China
| | - Juan Li
- Department of Reproductive Medicine, The Second Affiliated Hospital of Hainan Medical University, No. 368, Yehai Avenue, Haikou, 570311, Hainan, People's Republic of China.
| |
Collapse
|
|
19
|
Li S, Chen M, Zheng PS. Analysis of parental abnormal chromosomal karyotype and subsequent live births in Chinese couples with recurrent pregnancy loss. Sci Rep 2021; 11:20298. [PMID: 34645840 PMCID: PMC8514512 DOI: 10.1038/s41598-021-98606-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/22/2021] [Accepted: 09/01/2021] [Indexed: 11/29/2022] Open
Abstract
The frequency and distribution of chromosomal abnormalities and the impact of parental chromosomal aberration on the pregnancy outcomes of couples with recurrent pregnancy loss remains controversial. 3235 RPL couples who experienced two or more miscarriages before 20 weeks were diagnosed in our tertiary referral hospital during 2008–2018 and included in the single-center retrospective cohort study covering a 10-year period. Chromosome aberration was detected in 121 (3.74%) among 3235 RPL couples which included 75 female and 46 male cases at an individual level. 101 cases were structural aberrations including balanced translocations in 46(38.0%) cases, Robertsonian translocations in 13(10.7%) cases, inversions in 42(34.7%) cases and 20(16.5%) cases were numerical aberrations. 121 carriers and 428 non-carriers were followed up for two years, 55 carriers and 229 non-carriers were subsequent pregnant after diagnosis by natural conception or intrauterine insemination. The frequency of carriers to have a health newborn was not significantly different with non-carriers (72.7% vs. 71.2%, adjusted P = 0.968). This study described the majority of carriers were balanced translocations and chromosome aberrations had a limited influence on live birth rate from the present data. The results of the study also remind us that natural conception may be also a good alternative rather than PGD (Pre-implantation Genetic Diagnosis) which is common in many other reproductive centers for such patients.
Collapse
Affiliation(s)
- Shan Li
- Department of Reproductive Medicine, The First Affiliated Hospital of the Medical College, Xi'an Jiaotong University, 76 West Yanta Road, Xi'an, 710061, Shaanxi Province, People's Republic of China
| | - Mei Chen
- Department of Reproductive Medicine, The First Affiliated Hospital of the Medical College, Xi'an Jiaotong University, 76 West Yanta Road, Xi'an, 710061, Shaanxi Province, People's Republic of China
| | - Peng-Sheng Zheng
- Department of Reproductive Medicine, The First Affiliated Hospital of the Medical College, Xi'an Jiaotong University, 76 West Yanta Road, Xi'an, 710061, Shaanxi Province, People's Republic of China. .,Section of Cancer Stem Cell Research, Key Laboratory of Environment and Genes Related To Diseases, Ministry of Education of the People's Republic of China, Xi'an, 710061, Shaanxi, People's Republic of China.
| |
Collapse
|
|
20
|
Xie X, Li F, Tan W, Tang J. Analysis of the clinical features of pericentric inversion of chromosome 9. J Int Med Res 2021; 48:300060520957820. [PMID: 32957812 PMCID: PMC7513406 DOI: 10.1177/0300060520957820] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022] Open
Abstract
Objective The pericentric inversion of chromosome 9 (inv9) is one of the most common
structural balanced chromosomal variations, and it is considered to be a
normal population variant. The aim of this study was to re-evaluate the
clinical impact of patients with inv9. Methods We studied the karyotypes from 4853 patients at a single center and
retrospectively reviewed their clinical data. Results There were 67 inv9 patients among 2988 adults, and 62 of them showed
different clinical features, including male and female infertility,
oligoasthenozoospermia, and azoospermia. Thirty-one cases of inv9 were found
in 1865 fetuses, including two cases in chorionic villus (6.90%) and 29 in
amniotic fluid (1.67%), but there were no cases in umbilical cord blood. The
rates of fetal phenotype abnormal and adverse pregnancy outcome with inv9 in
the chorionic villus were 100.00% (2/2), while only 17.24% (5/29) in the
amniotic fluid showed abnormalities, among which 60.00% (3/5) had adverse
pregnancy outcomes. Conclusions Although there is no clear evidence that inv9 is pathogenic, the genetic
counseling on inv9 in early pregnancy and adults needs to be given more
attention.
Collapse
Affiliation(s)
- Xiaolei Xie
- Prenatal Diagnosis Center, The Sixth Affiliated Hospital of Guangzhou Medical University-Qingyuan People's Hospital, Qingyuan, Guangdong, China
| | - Fuguang Li
- Prenatal Diagnosis Center, The Sixth Affiliated Hospital of Guangzhou Medical University-Qingyuan People's Hospital, Qingyuan, Guangdong, China
| | - Weihe Tan
- Prenatal Diagnosis Center, The Sixth Affiliated Hospital of Guangzhou Medical University-Qingyuan People's Hospital, Qingyuan, Guangdong, China
| | - Jiang Tang
- Prenatal Diagnosis Center, The Sixth Affiliated Hospital of Guangzhou Medical University-Qingyuan People's Hospital, Qingyuan, Guangdong, China
| |
Collapse
|
|
21
|
Chromosome Abnormalities Related to Reproductive and Sexual Development Disorders: A 5-Year Retrospective Study. BIOMED RESEARCH INTERNATIONAL 2021; 2021:8893467. [PMID: 34036105 PMCID: PMC8118731 DOI: 10.1155/2021/8893467] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 09/01/2020] [Accepted: 04/23/2021] [Indexed: 12/19/2022]
Abstract
Chromosomal abnormalities are the main genetic risk factor associated with reproductive and sexual development disorders (DSD). The goal of this study is to retrospectively evaluate the frequency of chromosomal aberrations in Moroccan subjects with problems of procreation or sexual ambiguity. A total of 1005 individuals, including 170 infertile couples, underwent cytogenetic analysis in the Cytogenetic Laboratory of the Pasteur Institute of Morocco. Heparinized blood samples were processed according to the standard karyotype method. A total (81.5%) of the patients studied had a normal karyotype, while the remaining (18.5%) patients had an abnormal karyotype. Female patients had more chromosomal abnormalities (52%) than male patients (48%). These chromosomal aberrations included 154 cases (83%) of sex chromosomal abnormalities, the most common being Turner's syndrome and Klinefelter's syndrome, and 31 cases (17%) had autosomal aberrations, especially chromosome 9 reversal (inv(9)(p12;q13)). The present data shows that among 170 couples, 10.6% had chromosomal abnormalities mainly involved in the occurrence of recurrent miscarriages. Genotype-phenotype correlations could not be made, and therefore, studies using more resolutive molecular biology techniques would be desirable.
Collapse
|
|
22
|
Cheloufi M, Kazhalawi A, Pinton A, Rahmati M, Chevrier L, Prat-ellenberg L, Michel AS, Dray G, Mekinian A, Kayem G, Lédée N. The Endometrial Immune Profiling May Positively Affect the Management of Recurrent Pregnancy Loss. Front Immunol 2021; 12:656701. [PMID: 33841443 PMCID: PMC8024694 DOI: 10.3389/fimmu.2021.656701] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/21/2021] [Accepted: 03/04/2021] [Indexed: 11/13/2022] Open
Abstract
Introduction The endometrial immune profiling is an innovative approach based on the analysis of the local immune reaction occurring in the endometrium at the time of the embryo implantation. By documenting the local immune activation during the period of uterine receptivity, we aim to detect and correct potential imbalances before and at the very beginning of placentation. The main objective of the study was to analyze in women with a history of repeated pregnancy loss (RPL) the association of personalized strategies based on immune dysregulations with live birth rates. The secondary objective was to highlight the main prognostic factors for live births. Methods This is an observational retrospective analysis of 104 patients with RPL, included between January 2012 and December 2019. Inclusion criteria included a spontaneous fertility with at least three miscarriages, an assessment including a three-dimension ultrasound scan, an endometrial biopsy for uterine immune profiling and a follow-up over at least 6 months with personalized care if indicated after the complete assessment. We defined as a success if the patients had a live birth after the suggested plan, as a failure if the patient either did not get pregnant or experienced a new miscarriage after the targeted therapies. Results Uterine immune profiling was the only exploration to be significantly associated with a higher live birth rate (LBR) if a dysregulation was identified and treated accordingly (55% vs 45%, p=0.01). On the contrary, an absence of local dysregulation (resulting in an apparently balanced immune environment) was associated with a higher risk of a new miscarriage, suggesting that the cause inducing RPL still needed to be identified. Independently of age and AMH level, dysregulated immune profile is significatively associated with 3 times higher LBR than a non-deregulated profile (OR=3.4 CI 95%1.27-9.84) or five times in case of an overactive profile treated by immunotherapy (OR=5 CI 95% 1.65-16.5). The usage of ART was significantly associated with lower LBR regardless of the presence of a subfertility factor (p=0.012). Personalization of medical care using natural cycle or simple hormonal stimulation is associated with a significantly higher LBR than personalization including ART treatments regardless of maternal age and AMH level (OR= 2.9 CI 95% 1.03-8.88). Conclusion Our study suggests that some endometrial immune profiles with targeted management of RPL are associated with a higher rate of LBR. ART may be negatively associated with LBR.
Collapse
Affiliation(s)
- Meryam Cheloufi
- Department of Obstetrics and Gynecology, Trousseau Hospital, APHP, Sorbonne Université, FHU PREMA, Paris, France
| | - Alaa Kazhalawi
- MatriceLAB Innove SARL, Pépinière Paris Santé Cochin, Paris, France
| | - Anne Pinton
- Department of Obstetrics and Gynecology, Trousseau Hospital, APHP, Sorbonne Université, FHU PREMA, Paris, France
| | | | - Lucie Chevrier
- MatriceLAB Innove SARL, Pépinière Paris Santé Cochin, Paris, France
| | - Laura Prat-ellenberg
- Centre d’Assistance Médical á la Procréation Bluets-Drouot, Hôpital Les Bluets, Paris, France
| | - Anne-Sophie Michel
- Department of Obstetrics and Gynecology, Trousseau Hospital, APHP, Sorbonne Université, FHU PREMA, Paris, France
- Centre d’Assistance Médical á la Procréation Bluets-Drouot, Hôpital Les Bluets, Paris, France
| | - Geraldine Dray
- Centre d’Assistance Médical á la Procréation Bluets-Drouot, Hôpital Les Bluets, Paris, France
| | - Arsène Mekinian
- Hôpital Saint-Antoine Groupe Hospitalier AP-HP, Sorbonne Université (Paris), Paris, France
| | - Gilles Kayem
- Department of Obstetrics and Gynecology, Trousseau Hospital, APHP, Sorbonne Université, FHU PREMA, Paris, France
| | - Nathalie Lédée
- MatriceLAB Innove SARL, Pépinière Paris Santé Cochin, Paris, France
- Centre d’Assistance Médical á la Procréation Bluets-Drouot, Hôpital Les Bluets, Paris, France
| |
Collapse
|
|
23
|
Liu DY, Li RY, Fu LJ, Adu-Gyamfi EA, Yang Y, Xu Y, Zhao LT, Zhang TF, Bao HQ, Xu XO, Gao XH, Yang XN, Ding YB. SNP rs12794714 of CYP2R1 is associated with serum vitamin D levels and recurrent spontaneous abortion (RSA): a case-control study. Arch Gynecol Obstet 2021; 304:179-190. [PMID: 33625596 DOI: 10.1007/s00404-021-06004-y] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/09/2020] [Accepted: 02/11/2021] [Indexed: 01/20/2023]
Abstract
PURPOSE Vitamin D (VD) deficiency seems to be associated with the risk of recurrent spontaneous abortion (RSA). Vitamin D receptor (VDR) and cytochrome P450 family 2 subfamily R member 1 (CYP2R1) are two genes which are vital for VD metabolism and actions. However, whether single-nucleotide polymorphisms (SNPs) in these genes are correlated with the risk of RSA are poorly understood. Therefore, we aimed to characterize the relationships among VDR SNPs, CYP2R1 SNPs and RSA. METHODS This case-control study enrolled 75 RSA patients and 83 controls. Serum VD and some cytokines were detected with LC-MS/MS and flow cytometry, respectively. Genotyping for three SNPs of CYP2R1 (rs10741657, rs10766197 and rs12794714) and five SNPs of VDR (rs7975232, rs1544410, rs2189480, rs2228570 and rs2239179) was done with polymerase chain reaction (PCR) and high-throughput sequencing. All the data were analyzed with appropriate methods and in different models. RESULTS The results revealed a significant correlation between the AG genotype of CYP2R1 rs12794714 and VD levels (OR 0.686; 95% CI 0.49-0.96; p = 0.028). Besides, the AG and GG genotypes of CYP2R1 rs12794714 were markedly related to the risk of RSA (OR 52.394, 59.497; 95% CI 2.683-1023.265, 3.110-1138.367; p = 0.009, 0.007, respectively). CONCLUSION Our results indicate that CYP2R1 rs12794714 might be a risk factor for RSA. Hence, early screening of pregnant women for CYP2R1 rs12794714 is necessary to warrant proactive counseling and treatment against RSA.
Collapse
Affiliation(s)
- Ding-Yuan Liu
- The Joint International Research Laboratory of Reproduction and Development, Ministry of Education, Department of Reproductive Biology, School of Public Health and Management, Chongqing Medical University, Chongqing, 400016, People's Republic of China
| | - Ren-Yan Li
- NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, Chongqing, 401120, People's Republic of China
| | - Li-Juan Fu
- Department of Pharmacology, School of Traditional Chinese Medicine, Chongqing Medical University, Chongqing, 400016, People's Republic of China
| | - Enoch Appiah Adu-Gyamfi
- The Joint International Research Laboratory of Reproduction and Development, Ministry of Education, Department of Reproductive Biology, School of Public Health and Management, Chongqing Medical University, Chongqing, 400016, People's Republic of China
| | - Yin Yang
- Department of Epidemiology, School of Public Health and Management, Chongqing Medical University, Chongqing, 400016, People's Republic of China
| | - Ying Xu
- Department of Epidemiology, School of Public Health and Management, Chongqing Medical University, Chongqing, 400016, People's Republic of China
| | - Le-Tian Zhao
- NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, Chongqing, 401120, People's Republic of China
| | - Tian-Feng Zhang
- NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, Chongqing, 401120, People's Republic of China
| | - Hua-Qiong Bao
- Affiliated Hospital of Chongqing Academy of Population and Family Planning, Chongqing, 400020, People's Republic of China
| | - Xiao-Ou Xu
- Affiliated Hospital of Chongqing Academy of Population and Family Planning, Chongqing, 400020, People's Republic of China
| | - Xiao-Han Gao
- NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, Chongqing, 401120, People's Republic of China
| | - Xue-Niu Yang
- Affiliated Hospital of Chongqing Academy of Population and Family Planning, Chongqing, 400020, People's Republic of China.
| | - Yu-Bin Ding
- The Joint International Research Laboratory of Reproduction and Development, Ministry of Education, Department of Reproductive Biology, School of Public Health and Management, Chongqing Medical University, Chongqing, 400016, People's Republic of China.
| |
Collapse
|
|
24
|
Woolner AMF, Nagdeve P, Raja EA, Bhattacharya S, Bhattacharya S. Family history and risk of miscarriage: A systematic review and meta-analysis of observational studies. Acta Obstet Gynecol Scand 2020; 99:1584-1594. [PMID: 32557529 DOI: 10.1111/aogs.13940] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/30/2020] [Revised: 04/22/2020] [Accepted: 06/01/2020] [Indexed: 12/15/2022]
Abstract
INTRODUCTION Miscarriage, a spontaneous pregnancy loss at <24 weeks' gestation, is a common complication of pregnancy but the etiologies of miscarriage and recurrent miscarriage are not fully understood. Other obstetric conditions such as preeclampsia and preterm birth, which may share similar pathophysiology to miscarriage, exhibit familial patterns, suggesting inherited predisposition to these conditions. Parental genetic polymorphisms have been associated with unexplained miscarriage, suggesting there could be a genetically inherited predisposition to miscarriage. This systematic review and meta-analysis of observational studies aimed to assess the association between family history of miscarriage and the risk of miscarriage in women. MATERIAL AND METHODS A systematic review and meta-analysis of observational studies was carried out in accordance with Meta-analysis Of Observational Studies in Epidemiology (MOOSE) guidelines. Electronic searches using databases (MEDLINE, EMBASE and CINAHL) were carried out to identify eligible studies from 1946 until 2019. Observational studies (cohort or case-control) were included. Human studies only were included. Participants were women of reproductive age. Exposure was a family history of one or more miscarriage(s). The primary outcome was miscarriage in women. Abstracts were screened and data were extracted by two independent reviewers. Study quality was assessed using Critical Appraisal Skills Program (CASP) tools. Data were pooled from individual studies using the Mantel-Haenszel method to produce pooled odds ratios (ORs) with 95% confidence intervals (95% CI). Systematic review registration number (PROSPERO): CRD42019127950. RESULTS Thirteen studies were identified in the systematic review; 10 were eligible for inclusion in the meta-analysis. Twelve studies reported an association between family history of miscarriage and miscarriage in women. In all, 41 287 women were included in the meta-analysis. Women who miscarried were more likely to report a family history of miscarriage (pooled unadjusted OR 1.90, 95% CI 1.37-2.63). Overall study quality and size varied, with few adjusting for confounding factors. Results should be interpreted with caution as the associations presented are based on unadjusted analyses only. CONCLUSIONS Women who miscarry may be more likely to have a family history of miscarriage. Further research is required to confirm or refute the findings.
Collapse
Affiliation(s)
- Andrea M F Woolner
- Aberdeen Center for Women's Health Research, Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK
| | - Priti Nagdeve
- Obstetrics & Gynecology, Aberdeen Maternity Hospital, NHS Grampian, Aberdeen, UK
| | - Edwin-Amalraj Raja
- Medical Statistics Team, Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK
| | - Siladitya Bhattacharya
- Aberdeen Center for Women's Health Research, Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK
| | - Sohinee Bhattacharya
- Aberdeen Center for Women's Health Research, Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK
| |
Collapse
|
|
25
|
Chen YC, Huang XN, Kong CY, Hu JD. Six families with balanced chromosome translocation associated with reproductive risks in Hainan Province: Case reports and review of the literature. World J Clin Cases 2020; 8:222-233. [PMID: 31970191 PMCID: PMC6962080 DOI: 10.12998/wjcc.v8.i1.222] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/28/2019] [Revised: 11/28/2019] [Accepted: 12/13/2019] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Balanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal positions. As the genetic substance with balanced translocation in individuals does not change, which is usually characterized by normal phenotype and intelligence, the individuals seek medical service after many miscarriages, resulting in considerable mental and physical burdens of the family members. In the current era with rapid advances in detection technology, cytogenetic examination, as a definitive approach, still plays an essential role.
CASE SUMMARY We report six cases with balanced chromosome translocation: Case 1: 46,XY,t(3;12)(q27;q24.1), infertility after 3 years of marriage; Case 2: 46,XX,t(4;16)(q31;q12), small uterus and irregular menstruation; Case 3: 46,XY,t(4;5)(q33;q13),9qh+, not pregnant after arrested fetal development; Case 4: 46,XX,t(11;17)(q13;p11.2), not pregnant after two times of spontaneous abortion; Case 5: 46,XX,t(10;13)(q24;q21.2), not pregnant after arrested fetal development for once; Case 6: 46,XX,t(1;4)(p36.1;q31.1), not pregnant after arrested fetal development for two times. The first four cases had chromosomal aberration karyotypes.
CONCLUSION These results suggested that balanced chromosomal translocation carriers are associated with reproductive risks and a very high probability of abnormal pregnancy. The discovery of the first four reported chromosomal aberration karyotypes provides an important basis for studying the occurrence of genetic diseases.
Collapse
Affiliation(s)
- Yun-Chun Chen
- Department of Laboratory Medicine, Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine (Haikou Hospital of Traditional Chinese Medicine), Haikou 570300, Hainan Province, China
| | - Xu-Ning Huang
- Department of Ultrasound Medicine, Second Affiliated Hospital of Hainan Medical University, Haikou 570300, Hainan Province, China
| | - Chang-Ying Kong
- Department of Gynecology, Second Affiliated Hospital of Hainan Medical University, Haikou 570300, Hainan Province, China
| | - Jian-Dong Hu
- Department of Internal Medicine, Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine (Haikou Hospital of Traditional Chinese Medicine), Haikou 570300, Hainan Province, China
| |
Collapse
|
|
26
|
Mikhailova VA, Khokhlova EV, Bazhenov DO, Agnaeva AO, Kozyreva AR, Bespalova ON, Selkov SA, Sokolov DI. Changes in expression of Ki-67, CD16 and CD56 by natural killer cells from peripheral blood mononuclear cells in the setting of recurrent miscarriage after in vitro culturing in the presence of trophoblast cells and IL-2. Cytotechnology 2019; 71:861-871. [PMID: 31317282 PMCID: PMC6664104 DOI: 10.1007/s10616-019-00331-4] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/14/2019] [Accepted: 07/09/2019] [Indexed: 11/25/2022] Open
Abstract
The aim of this research was to assess the proliferative activity of Natural Killer Cells (NK cells) from Peripheral Blood Mononuclear Cells (PBMCs) in the presence of trophoblast cells in women with a history of recurrent miscarriages. We examined the peripheral blood of women with recurrent miscarriage in the proliferative (n = 12) or secretory (n = 13) phase of their menstrual cycle, and pregnant women with a history of recurrent miscarriage at 6-7 weeks of their current pregnancy (n = 14). Controls were fertile non-pregnant women in the proliferative (n = 11) or secretory (n = 13) phase of their menstrual cycle, and pregnant women at 6-7 weeks of a physiologically normal pregnancy (n = 20). We used IL-2 as a factor maintaining PBMCs viability during long-term culturing. We established that culturing in the presence of IL-2 contributed to an increase in the number of CD56+CD16- NK cells and to a decrease in the number of CD56+CD16+ NK cells from PBMCs compared with these numbers before culturing in both healthy women and in women with recurrent miscarriage. After culturing of PBMCs in the presence of trophoblast cells and IL-2 (compared with culturing without trophoblast cells), the intensity of Ki-67 expression by NK cells was reduced in the whole NK cell population (CD3-CD56+), and in the CD56+CD16- and CD56+CD16+ populations of NK cells in women with recurrent miscarriage and in healthy controls. The intensity of CD56 expression was reduced in the presence of trophoblast cells and IL-2 in non-pregnant women with recurrent miscarriage in the secretory versus the proliferative phase of the menstrual cycle.
Collapse
Affiliation(s)
- V A Mikhailova
- Federal State Budgetary Scientific Institution Research Institute of Obstetrics, Gynecology, and Reproductology Named After D.O. Ott, Saint Petersburg, Russia.
| | - E V Khokhlova
- Federal State Budgetary Scientific Institution Research Institute of Obstetrics, Gynecology, and Reproductology Named After D.O. Ott, Saint Petersburg, Russia
| | - D O Bazhenov
- Federal State Budgetary Scientific Institution Research Institute of Obstetrics, Gynecology, and Reproductology Named After D.O. Ott, Saint Petersburg, Russia
- Federal State Budgetary Scientific Institution Research Institute of Experimental Medicine, Saint Petersburg, Russia
| | - A O Agnaeva
- Federal State Budgetary Scientific Institution Research Institute of Obstetrics, Gynecology, and Reproductology Named After D.O. Ott, Saint Petersburg, Russia
| | - A R Kozyreva
- Federal State Budgetary Scientific Institution Research Institute of Obstetrics, Gynecology, and Reproductology Named After D.O. Ott, Saint Petersburg, Russia
| | - O N Bespalova
- Federal State Budgetary Scientific Institution Research Institute of Obstetrics, Gynecology, and Reproductology Named After D.O. Ott, Saint Petersburg, Russia
| | - S A Selkov
- Federal State Budgetary Scientific Institution Research Institute of Obstetrics, Gynecology, and Reproductology Named After D.O. Ott, Saint Petersburg, Russia
| | - D I Sokolov
- Federal State Budgetary Scientific Institution Research Institute of Obstetrics, Gynecology, and Reproductology Named After D.O. Ott, Saint Petersburg, Russia
- Federal State Budgetary Scientific Institution Research Institute of Experimental Medicine, Saint Petersburg, Russia
| |
Collapse
|