To evaluate and compare the effectiveness of traditional teaching methods versus simulation-based learning in clinical ultrasound internships in obstetrics and gynecology.

A randomized controlled study was conducted to compare three teaching methods: simulation-based teaching, traditional + simulation-based teaching, and traditional teaching.

The study was conducted at Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College) from January 2023 to December 2024.

A total of 120 clinical interns were selected and randomly divided into 3 groups (40 in each): Experimental Group 1 Simulation Teaching Group; Experimental Group 2 Traditional + Simulation Teaching Group; Control Group Traditional Teaching Group.

All groups received theoretical and practical ultrasound training, followed by assessment. Teaching performance was evaluated based on teaching time, daily practice opportunities, content mastery, stress levels, error rates in clinical assessments, and long-term knowledge retention.

Teaching time, number of daily practice opportunities, stress levels, content mastery, error rates during practical exams, and long-term knowledge retention.

Simulation-based teaching significantly improved teaching efficiency, reduced anxiety, and lowered error rates during clinical operations. Long-term knowledge retention was highest in the traditional + simulation group, and combining both teaching methods enhanced skills and knowledge retention.

Simulation-based teaching, especially when combined with traditional methods, enhances ultrasound training by improving operational skills, reducing stress, and increasing long-term knowledge retention.

Obesity during pregnancy is related to fetal overgrowth. Effective interventions that can mitigate this risk are needed.

This study aimed to investigate the effect of a lifestyle intervention for pregnant women with obesity on fetal growth trajectories.

In the DALI trial, pregnant women with a body mass index ≥29.0 kg/m2 and without gestational diabetes at baseline were randomized to counselling on physical activity (PA), healthy eating (HE) or a combination (PA + HE), or to usual care (UC). Fetal growth trajectories were modelled based on a combination of estimated fetal weight (EFW) from repeated ultrasound scans and weight measured at birth. Differences in fetal growth trajectories between groups were assessed.

Three hundred eighty-four women were included. Those in the PA + HE intervention had slower EFW gain from 32 weeks onwards, with differences (PA + HE vs. UC) at 32, 36 and 40 weeks of -54.1 g (-146.7 to 38.9 g), -84.9 g (-194.0 to 24.7 g), and -99.8 g (-227.1 to 28.1 g), respectively. Effects appeared stronger in males, with a difference at 40 weeks of -185.8 g (-362.5 g to -9.2 g) versus -23.4 g (-190.4 g to 143.5 g) in females.

A lifestyle intervention for pregnant women with obesity resulted in attenuated fetal growth, which only reached significance in male offspring. Future larger trials are needed to confirm these findings and elucidate underlying pathways.

The 3q29 deletion syndrome is characterized by neurodevelopmental and/or psychiatric manifestations after birth. Few cohort studies have been focused on prenatal manifestations of this syndrome.

This study is aimed to reveal the prenatal manifestations of 3q29 deletion syndrome.

In this 5-year retrospective cohort study, gravidas with singleton pregnancies who underwent invasive prenatal diagnosis via single nucleotide polymorphism array for chromosomal abnormalities were included. First-trimester ultrasound screening was performed at 11+0--13+6 weeks' gestation for all included gravidas, and detailed mid-trimester fetal anomaly scans were performed at 20+0--24+0 weeks' gestation.

The prevalence of 3q29 deletion was 0.24 per thousand (9/36,978) in the prenatal period. Approximately 77.78 % (7/9) fetuses with 3q29 deletion were observed with unseptate enlarged nuchal translucency (NT) without major heart defects. Except for one was inherited from the gravidas with mild intellectual disability, all the other eight were proven to be de novo. The incidence of 3q29 deletion in fetuses with enlarged NT was significantly higher than those without enlarged NT (P < 0.001).

The 3q29 deletion was enriched in fetuses with enlarged NT. Enlarged NT was the most specific prenatal presentation for 3q29 deletions.

The aim of this study is to investigate the differences in the accuracy of sonographic antenatal fetal weight estimation at term with artificial intelligence (AI) compared to that of clinical sonographers at different levels of experience.

This is a prospective cohort study where pregnant women at term scheduled for an imminent elective cesarean section were recruited. Three independent antenatal fetal weight estimations for each fetus were blindly measured by an experienced resident physician with level I qualification from the German Society for Ultrasound in Medicine (group 1), a senior physician with level II qualification (group 2), and an AI-supported algorithm (group 3) using Hadlock formula 3. The differences between the three groups and the actual birth weight were examined with a paired t-test. A variation within 10% of birth weight was deemed accurate, and the diagnostic accuracies of both groups 1 and 3 compared to group 2 were assessed using receiver operating characteristic (ROC) curves. The association between accuracy and potential influencing factors including gestational age, fetal position, maternal age, maternal body mass index (BMI), twins, neonatal gender, placental position, gestational diabetes, and amniotic fluid index was tested with univariate logistic regression. A sensitivity analysis by inflating the estimated weights by daily 25 grams (g) gain for days between examination and birth was conducted.

300 fetuses at a mean gestational week of 38.7 ± 1.1 were included in this study and examined on median 2 (2-4) days prior to delivery. Average birth weight was 3264.6 ± 530.7 g and the mean difference of the sonographic estimated fetal weight compared to birthweight was -203.6 ± 325.4 g, -132.2 ± 294.1 g, and -338.4 ± 606.2 g for groups 1, 2, and 3 respectively. The estimated weight was accurate in 62% (56.2%, 67.5%), 70% (64.5%, 75,1%), and 48.3% (42.6%, 54.1%) for groups 1, 2, and 3 respectively. The diagnostic accuracy measures for groups 1 and 3 compared to group 2 resulted in 55.7% (48.7%, 62.5%) and 68.6% (61.8%, 74.8%) sensitivity, 68.9% (58.3%, 78.2%) and 53.3% (42.5%, 63.9%) specificity and 0.62 (0.56, 0.68) and 0.61 (0.55, 0.67) area under the ROC curves respectively. There was no association between accuracy and the investigated variables. Adjusting for sensitivity analysis increased the accuracy to 68% (62.4%, 73.2%), 75% (69.7%, 79.8%), and 51.3% (45.5%, 57.1%), and changed the mean difference compared to birth weight to -136.1 ± 321.8 g, -64.7 ± 291.2 g, and -270.7 ± 605.2 g for groups 1, 2, and 3 respectively.

The antenatal weight estimation by experienced specialists with high-level qualifications remains the gold standard and provides the highest precision. Nevertheless, the accuracy of this standard is less than 80% even after adjusting for daily weight gain. The tested AI-supported method exhibits high variability and requires optimization and validation before being reliably used in clinical practice.

True umbilical cord knot (TUCK) is frequently missed in prenatal ultrasound (US), hindering standardized management and risk assessment of adverse perinatal outcomes. This study aimed to assess TUCK detection accuracy using active umbilical cord (UC) scanning and identify factors affecting prenatal visualization.

A prospective study of 378 pregnant women (11-40 weeks) was conducted. Experienced and novice physicians sequentially scanned the full UC, grading umbilical cord ultrasonic image quality (UCUIQ) as sufficient (scale 1), restricted (scale 2), or poor (scale 3). Factors affecting UCUIQ were analyzed using multiple logistic regression, and diagnostic accuracy was evaluated. Cases for diagnosis were confirmed at delivery.

Interobserver agreement for UCUIQ grading was excellent (К = 0.979). Gestational week emerged as the primary factor influencing UC visualization (P < 0.05), with ultrasound achieving a diagnostic accuracy of no less than 89.3% for TUCK detection during the 17-26 weeks gestational period.

Gestational week significantly influenced TUCK detection, with high accuracy at 17-26 weeks. Active UC scanning during this period improved detection accuracy of TUCK.

Prenatal ultrasound (US) is essential in antenatal care worldwide and offers significant benefits for maternal and neonatal health. It should be a standard procedure in low- income countries. However, its utilization remains poor in nations such as Ethiopia.

This study aimed to assess the use of prenatal ultrasound and associated factors among pregnant women who attended antenatal care in South Wollo Zone Public Hospitals, Northeast Ethiopia, in 2023.

An institution-based cross-sectional study was conducted among 590 pregnant women from December 30, 2022, to February 28, 2023, in selected South Wollo Zone Public Hospitals. The data were coded, cleaned, and entered into Epi-Data version 4.6 and subsequently exported to SPSS version 26 for analysis. The strength of the association between the dependent and independent variables was presented as odds ratios (ORs) at a 95% confidence interval (95% CI), with a P-value of less than 0.05 according to multivariable logistic regression.

The prevalence of prenatal ultrasound utilization was 62.8% [95% CI: 58.7%-66.8%]. The significant factors associated with utilization included urban residency (AOR = 4.82, 95% CI: 2.99-8.03), mothers' knowledge (AOR = 7.36, 95% CI: 4.06-13.32), educational status above primary (AOR = 2.10, 95% CI: 1.09-4.05), medical illness (AOR = 3.03, 95% CI: 1.64-5.59), government employment (AOR = 4.05, 95% CI: 1.70-9.64), and private employment (AOR = 2.34, 95% CI: 1.58-7.05).

The proportion of patients who underwent prenatal ultrasound was lower than the WHO recommendation. The factors most significantly associated with ultrasound utilization were women's knowledge, urban residency, educational status, medical illness, and occupation. Therefore, the author recommended for health care providers educating mothers on the purposes of obstetric ultrasound and including a prenatal ultrasound screening as part of antenatal care is needed.

Provision and uptake of antenatal screening is nonuniform in Austria, as there is no national screening program. The aim of the study was to evaluate the influence of prenatal ultrasound screening methods on the time of diagnosis and therefore the rate of feticide in pregnancies with fetal malformations.

Retrospective data analysis of terminations of pregnancies (TOP) with and without feticide due to fetal structural anomalies at a single tertiary care referral center in Austria between 2007 and 2020.

Over the study period, the number of TOPs increased overall, and a nonsignificant rise in the rate of feticide was observed. Women who underwent TOP without feticide significantly more often had first trimester screening; in particular, 588 (86%) cases compared to 121 (57%) with feticide (p < 0.001). Furthermore, in the subgroup of cases diagnosed after 20 weeks of pregnancy (WoP), a significant association between cases without a mid-trimester anomaly scan and TOP with feticide was found. Gestational age at diagnosis was influenced by the type of malformation and therefore the affected organ system.

First trimester screening is critical in early fetal assessment and preventing unnecessary late terminations and feticide. Mid-trimester anomaly scan further increases the early detection of fetal malformations, especially those that become apparent later in pregnancy. Consequently, comprehensive counselling regarding the benefits of prenatal ultrasound screening should be provided to all pregnant women.

To investigate prenatal ultrasound characteristics, associated abnormalities, and outcomes of partial agenesis of the corpus callosum (pACC).

A total of 118 fetuses with pACC diagnosed using prenatal ultrasound were studied, and their prenatal ultrasound characteristics, associated abnormalities, genetics, and outcomes were collected. The fetuses were categorized into three groups according to gestational age: <24 weeks, 24-28 weeks, and >28 weeks, and the brain transverse plane ultrasound signs were compared among the three groups.

Prenatal ultrasound revealed the presence of abnormal cavum septi pellucidi (CSP), distention of the interhemispheric fissure (IF), dilated and elevated third ventricle (TV), and ventriculomegaly in 102 (86.4%), 91 (77.1%), 56 (47.4%), and 42 (35.6%) cases, respectively, in the transverse plane of the brain. Among the cases with dilatation and elevation of the TV, 38 (67.8%) showed posterior displacement, manifested by a cystic mass in the midline that communicated with the TV. There were statistically significant differences in the incidence of ventriculomegaly and abnormal CSP among the three groups at <24 weeks, 24-28 weeks, and >28 weeks. However, there were no statistically significant differences in the distention of the IF and TV among the three groups. Moreover, our cohort studies demonstrated that 32.2% (38/118), 18.6% (22/118), and 17.8% (21/118) of the cases were associated with intracranial, extracranial, and intra-extracranial anomalies, respectively. The most common intracranial and extracranial anomalies were cerebral cortical dysplasia and cardiovascular anomalies. Genetic analysis demonstrated that 37.8% (17/41) of patients had genetic abnormalities. 25% (4/16) and 52% (13/25) of isolated and non-isolated pACC cases showed genetic abnormalities. Eight isolated cases were born, with an average age of 28 months, and their neurological development was normal.

Abnormal CSP was the most common indirect sign of pACC. A cystic mass in the midline communicating with the TV can be another indirect sign of a pACC. pACC is likely to be accompanied by intracranial and extracranial abnormalities. The detection rate of genetic abnormalities was higher in non-isolated pACC cases than in isolated cases. Isolated pACC has a good prognosis but requires long-term follow-up of neurological development.

Biliary atresia (BA) is a rare and severe congenital disorder with a significant challenge for prenatal diagnosis. This study, registered at the Chinese Clinical Trial Registry (ChiCTR2200059705), aimed to develop an intelligent model to aid in the prenatal diagnosis of BA. To develop and evaluate this model, fetuses from 20 hospitals across China and infants sourced from public database were collected. The transfer-learning model (TLM) demonstrated superior diagnostic performance compared to the basic deep-learning model, with higher area under the curves of 0.906 (95%CI: 0.872-0.940) vs 0.793 (0.743-0.843), 0.914 (0.875-0.953) vs 0.790 (0.727-0.853), and 0.907 (0.869-0.945) vs 0.880 (0.838-0.922) for the three independent test cohorts. Furthermore, when aided by the TLM, diagnostic accuracy surpassed that of individual sonologists alone. The TLM achieved satisfactory performance in predicting fetal BA, providing a low-cost, easily accessible, and accurate diagnostic tool for this condition, making it an effective aid in clinical practice.

Fetal biometric assessments through ultrasound diagnostics are integral in obstetrics and gynecology, requiring considerable time investment. This study aimed to explore the potential of artificial intelligence (AI) architectures in automatically identifying fetal abdominal standard scanning planes and structures, particularly focusing on the abdominal circumference. Ultrasound images from a prospective cohort study were preprocessed using CV2 and Keras-OCR to eliminate textual elements and artifacts. Optical character recognition detected and removed textual components, followed by inpainting using adjacent pixels. Six deep learning neural networks, Xception and MobileNetV3Large, were employed to categorize fetal abdominal view planes. The dataset included nine classes, and the models were evaluated through a tenfold cross-validation cycle. The MobileNet3Large and EfficientV2S achieved accuracy rates of 79.89% and 79.19%, respectively. Data screening confirmed non-normal distribution, but the central limit theorem was applied for statistical analysis. ANOVA test revealed statistically significant differences between the models, while Tukey's post hoc tests showed no difference between MobileNet3Large and EfficientV2S, while outperforming the other networks. AI, specifically MobileNet3Large and EfficientV2S, demonstrated promise in identifying fetal abdominal view planes, showcasing potential benefits for prenatal ultrasound diagnostics. Further studies should compare these AI models with established methods for automatic abdominal circumference measurement to assess overall performance.

Four distinct vascular anomalies can be seen to affect the brain on fetal imaging: vein of Galen malformations, nongalenic arteriovenous pial fistulas, dural sinus malformations, and intracranial venous malformations. These congenital disorders affect the arteries and veins of the developing brain and are rarely seen beyond the neonatal stage. The 4 fetal cerebrovascular anomalies are associated with quite disparate natural histories and prognoses. MRI plays a pivotal role in the evaluation of fetuses with these conditions because of its ability to definitively establish the diagnosis, to detect subtle parenchymal injuries, to delineate the course of abnormal vessels in detail and to some extent the nature of vascular flow, and to identify ischemic, thrombotic, and hemorrhagic complications. Recently, an investigational transuterine embolization procedure targeted at treating fetuses with vein of Galen malformations who are at high risk for neonatal decompensation has emerged as a promising alternative to expectant management and postnatal embolization, with imaging being used to identify suitable patients for the intervention and in preprocedural planning. This manuscript reviews the essential imaging and clinical features of these 4 fetal neurovascular anomalies and underscores the practical aspects related to counseling, prognosis, and the multidisciplinary management of these entities.

Fetal growth restriction (FGR) is a condition where fetuses fail to reach their genetic potential for growth, posing a significant health challenge for newborns. The aim of this research was to explore the efficacy of texture-based analysis of neurosonographic images in identifying FGR in fetuses, which may provide a promising tool for early assessment of FGR.

A retrospective analysis collected 100 intrauterine neurosonographic images from 50 FGR and 50 gestational age-appropriate fetuses. Using MaZda software, approximately 300 texture features were extracted from occipital white matter (OWM) and cerebellum of intrauterine neurosonographic images, respectively. Then 10 optimal features were separately selected by 3 algorithms, including the Fisher coefficient method, the method of minimizing classification error probability and average correlation coefficients, and the mutual information coefficient method. Further, the 10 statistically most significant features were selected from these sets to form the mixed feature set. After nonlinear discriminant analysis was performed to reduce feature dimensionality, the artificial neural network (ANN) classifier was conducted, respectively.

For OWM and cerebellum, a total of 11 and 14 statistically significant features were selected. When the mixed feature sets of OWM and cerebellum were applied to ANN classifier, classification accuracy were 90.00% (κ = 0.800; P < .001) and 93.00% (κ = 0.860; P < .001), and the receiver operating characteristic curve for identifying FGR showed an area under the curve of 0.82 and 0.87.

Texture analysis of fetal intrauterine neurosonographic images is a feasible and noninvasive strategy for evaluating FGR fetuses.

The aim of this study is to investigate the association between sleep quality during pregnancy and fetal growth. Pregnant women and their fetuses at 16-20 gestational weeks in Nantong Maternal and Child Health Hospital were recruited. Women were classified as having "good sleep quality" (Pittsburgh Sleep Quality Index score ≤ 5) and "poor sleep quality" (Pittsburgh Sleep Quality Index score > 5) according to the Pittsburgh Sleep Quality Index scores. The fetal growth was evaluated by three ultrasonographic examinations, birth weight and birth length. We used general linear model and multiple linear regression models to estimate the associations. A total of 386 pairs of mother and infant were included in the data analysis. After adjusting for gestational weight gain, anxiety and depression, fetuses in the good sleep quality group had greater abdominal circumference (p = 0.039 for 28-31+6 weeks gestation, p = 0.012 for 37-40+6 weeks gestation) and femur length (p = 0.014 for 28-31+6 weeks gestation, p = 0.041for 37-40+6 weeks gestation) at 28-31+6 weeks gestation and 37-40+6 weeks gestation, and increased femur length (p = 0.007) at 28-31+6 weeks gestation. Birth weights (p = 0.018) were positively associated with sleep quality. Poor sleep quality was associated with poor intrauterine physical development, decreased abdominal circumference and femur length, and lower birth weight after adjusting for confounding factors. Attention to the fetal growth of pregnant women with poor sleep quality has the potential to decrease the risk of adverse fetal outcomes.

Preterm birth (PTB) is a major pregnancy complication. There is evidence that a short cervical length in mid-pregnancy may predict women at increased risk of PTB.

To evaluate the utility of population-based, transabdominal cervical length (TACL) measurement screening in mid-pregnancy for PTB prediction in women.

A transabdominal approach was initially performed, with a transvaginal (TVCL) approach offered when the TACL was <35 mm, could not be accurately measured, or the pregnancy had risk factors for PTB. TACL was compared to the directly related TVCL, when both were performed at the same assessment. Women with risk factors of PTB were included when they had both TACL and TVCL measurements performed at the same visit.

Data were provided for 9355 singleton pregnancies from 13 participating imaging centres. A transabdominal approach was used in 9006 (96.3%), including 682 (7.3%) TVCL combined with TACL. There were 349 (3.7%) women who had TVCL only. The median TACL was longer (40 mm) than the TVCL (38 mm). In 682 paired TACL and TVCL measurements, TACL <35 mm correctly identified 96.2% of pregnancies with TVCL <25 mm, compared with 65.4% of cases when using a TACL <30 mm. A TVCL <25 mm occurred in 59 (0.6%) women. A TACL <35 mm was associated with birth <37 weeks of gestation in 12.1% of women and birth <32 weeks of gestation in 3.9%.

Universal TACL is a feasible option for population screening of cervical length in a low-risk population, progressing to TVCL if the TACL is <35 mm or the cervix cannot be transabdominally accurately measured.

To establish normal values of palatal bone growth in fetuses at different gestational weeks in the early stages of the second trimester and to explore the clinical application value of the four-step ultrasound screening method for fetal cleft lip and palate.

A prospective study of prenatal ultrasound screening.

Secondary maternal and child health institutions.

300 fetuses of 12 to 20 +6 weeks gestation without cleft lip and/or palate; 8538 fetuses at high risk of cleft lip and palate with malformations or karyotypic abnormalities.

None.

palatomandibular diameter (PMD) and transverse palatal diameter was measured and establish their typical values.

(1) There is a typical "superimposed line" sign in the median sagittal section of the typically developing fetal face from 12 to 20+6 weeks of gestation. (2) The PMD and hard palate transverse diameter of fetuses from 12 to 20+6 weeks of gestation increased linearly with time. (3) Among 8538 high-risk fetuses, 21 cases of cleft lip and palate were diagnosed by the four-step ultrasound screening method in the early stages of the second trimester.

The median sagittal section of the typically developing fetal face in the early stages of the second trimester presents a typical "superimposed line" sign, and the PMD and transverse palatal diameter increase with time. The four-step ultrasound screening method for fetal cleft lip and palate in the early stages of the second trimester has high clinical application value.

This study investigated the effects of high compared to normal dietary salt intake on fetoplacental vascular function, activity of renin-angiotensin-aldosterone system (RAAS), placental pro- and anti-angiogenic factors and biomarkers of placental remodeling and oxidative stress during healthy uncomplicated pregnancy.

Based on their 24-h sodium excretion pregnant women (37-40 weeks' gestation) were categorized into three groups: normal salt (NS, <5.75 g/day, N = 12), high salt (HS, 5.75-10.25 g/day, N = 36), and very high salt (VHS, >10.25 g/day, N = 17). Pulsatility (PI) and resistive index of middle cerebral artery (MCA) and umbilical artery, plasma renin activity (PRA), serum aldosterone, soluble fms-like tyrosine kinase-1 (sFlt-1) and placental growth factor (PlGF) concentrations, as well as placental vascular endothelial growth factor C (VEGF-C), oxidative/antioxidative stress markers (TBARS/FRAP) and matrix metalloproteinase 9 (MMP-9) concentration were measured.

PI MCA was significantly decreased in HS/VHS groups compared to NS group. HS/VHS intake did not suppress PRA and aldosterone concentration. Serum PlGF concentration was significantly increased while sFlt-1 concentration and sFlt-1/PlGF ratio were significantly decreased in VHS group compared to NS group. MMP-9, VEGF-C concentration, TBARS and FRAP in placental tissue were similar between study groups.

HS/VHS diet does not suppress RAAS during pregnancy; however, it is associated with decreased PI MCA, a significantly decreased sFlt-1/PlGF ratio and unchanged biomarkers of placental remodeling or oxidative stress in healthy pregnant women, suggesting the presence of a possible protective or compensatory mechanism aimed at preserving placental function and pregnancy outcome itself in terms of maternal HS intake.

To evaluate the development of the central nervous system in fetuses with fetal Growth Restriction.

A total of 146 pregnant women who underwent prenatal ultrasonography in Cangzhou People's Hospital from January 2022 to May 2024 were selected, all with singleton pregnancies. Among them, 73 fetuses were in the fetal growth restriction group, with ages ranging from 20 to 33 + 6 weeks. The indicators for evaluating the cerebral sulci included the depth and angle of the parietooccipital sulci, the width and depth of the sylvian fissure, the width of the uncovered insula, uncover insular ratio, the depth of the calcarine sulci, and the head circumference. The hemodynamic indicators comprised the ratio of the umbilical artery resistance index, the umbilical artery pulse index, the middle cerebral artery resistance index, the middle cerebral artery pulse index, and the cerebral placental blood flow pulse index. The above parameters were analyzed statistically.

In this study, the depth of the parietooccipital sulci, the depth of the calcarine sulci, and the width of the sylvian fissure were smaller in the fetal growth restriction group than those in the control group, and the angle of the parietooccipital sulci and the width of the uncovered insula were larger than those in the control group (all P < 0.05). The fetal middle cerebral artery resistance index, middle cerebral artery pulsation index and cerebroplacental pulsation ratio in the FGR group were lower than those in the control group (all P < 0.05).

The development of the cerebral cortex in FGR fetuses is slower than that in normal fetuses, and the alteration of fetal hemodynamics might be one of the reasons for the delayed development of the cerebral cortex in FGR fetuses.

Congenital right aortic arch (RAA) and double aortic arch (DAA) were difficult to be diagnosed by traditional fetal echography. However, these two diseases have distinct clinical therapies and long-term outcomes which makes the differential diagnosis of great importance. While fetal screening by traditional fetal echography provides limited information about the branches of the aortic arch. This study aimed to discover and evaluate a novel combination of different echocardiography views in the diagnosis and differentiation of RAA and DAA.

From January 2014 to December 2022, a total of 414,686 pregnant women underwent routine ultrasound examinations of the fetus during the second trimester. The scan of the fetal heart included a fetal four-chamber view, The left ventricular outflow tract (LVOT) view, a right ventricular outflow tract (RVOT) view, a three-vessel (3 V) view, and three vessels and trachea (3VT) view. Then the cases diagnosed as RAA or DAA by initial ultrasound screening from two hospitals were divided into the RAA group and the DAA group. Then enter the prenatal diagnosis consultation. All the pregnant women were offered invasive prenatal diagnosis. Genetic tests were fully discussed and decided after genetic counseling. Further ultrasound examination by two more experienced sonographers, in addition to the fetal echocardiogram views, includes further multi-angle scanning of the aortic arch branches with color Doppler flow imaging (CDFI) or high definition flow imaging (HDFI) for further diagnosis, and the reasons for misdiagnosis were analyzed and summarized.

A total of 332 cases were diagnosed with RAA or DAA by initial ultrasound, including RAA group 244 cases and DAA group 88 cases. In the RAA group, the mirror RAA (MRAA) could not be completely diagnosed by 3VT view alone in traditional echocardiography, with accuracy and sensitivity of 88.9% and 72.6%, respectively. In the DAA group, 36 cases were misdiagnosed only by 3VT view alone in traditional echocardiography, with the accuracy and specificity of 88.9% and 86.8%, respectively. However, the accuracy for MRAA or DAA could reach 100% when combined with 3VT and multi-angle scanning of the aortic arch branches. The abnormal detection rate of genetic tests was 10.5% (20/190), excluding the cases who refused the invasive prenatal diagnosis.

Combining 3VT and multi-angle scanning of the aortic arch branches With CDFI or HDFI could effectively distinguish RAA variants from DAA. The invasive prenatal diagnosis should be recommended for patients with RAA or DAA, and the accurate prenatal diagnosis was highly valuable in providing appropriate perinatal counseling and prognostic evaluation.

Preterm birth continues to be one of the most significant contributors to perinatal death. This study aims to evaluate the quality of antenatal care provided to women delivering preterm.

This was a retrospective, descriptive, longitudinal review of all women who had antenatal care within a single Australian tertiary hospital and delivered spontaneously between 24 and 37 weeks of gestation, using an auditable scoring system assessing potential interventions for prevention of preterm birth. The review was limited to singleton pregnancies without fetal abnormalities delivering between January 2013 and April 2015. The audit tool was developed by reference to established 'best practice' guidance for prediction and prevention of preterm birth based on Royal Australian and New Zealand College of Obstetricians and Gynaecologists guidelines and published literature. Different pathways were assessed for women deemed either low- or high-risk at the outset of antenatal care.

A series of 161 pregnancies that delivered preterm (between 24 and 37 weeks' gestation) were reviewed. The quality of antenatal care was scored 'good' in 42.9% and 50% of high-risk and low-risk women, respectively. Care was scored 'adequate', with room for improvement in 51.4% and 45.2% of the two corresponding groups. The main deficiencies in care were recorded evidence of assessment of cervical length (absent in 35% of cases) and failure to screen for bacterial vaginosis in high-risk women.

Auditing antenatal care for prevention of preterm birth allows identification of suboptimal practice allowing service improvement and potential intervention for preterm birth prevention.

To assess the characteristics, additional structural anomalies and postnatal urinary outcome of the cases diagnosed with fetal ectopic kidneys in the prenatal period.

Cases having fetal ectopic kidneys, detected from a total of 14,617 pregnant women examined by routine detailed (Group 1) or indicated (Group 2) obstetric ultrasonography (USG) in a tertiary perinatology unit were analyzed. The prevalence of the cases, time of the diagnosis, sidedness of the affected kidney, anatomical location, origins of blood supply, additional urinary or extraurinary anomalies, and urinary complications during the postnatal follow-up period were investigated.

We have detected 33 fetuses with ectopic kidneys in our cohort. The prevalence of fetal ectopic kidney was 0.22 %, with a median (min.-max.) diagnosis time of 21.3 (17.6-34) weeks. In the group in whom indicated USG was performed, the time of diagnosis was later compared to routine detailed USG (p = 0.04) group. There was no difference in terms of gender [male, (n = 14), female (n = 19), p = 0.38] and the sidedness of the ectopic kidneys (p = 0.38). The location of ectopic kidneys was most frequent in the iliac fossa (n = 20, 60.6 %) and in the lateral pelvic areas (n = 13, 39.3 %). The blood supply origin of ectopic kidneys was the common iliac artery in 22 (66.6 %), whereas the aorta in 11 cases (33.3 %). There was an additional urinary anomaly in 8 cases (24 %), an extraurinary structural anomaly, most commonly cardiac, and/or a soft marker for aneuploidy were presented in 16 cases (48 %). The most common urinary complication in the postpartum period was vesicoureteral reflux (n = 5).

Ectopic kidney in the prenatal period is a rare structural anomaly that can equally affect both genders and both kidneys. Prenatal diagnosis is important for the diagnosis of additional anomalies and follow-up of postnatal complications.

Orofacial clefts are one of the most common congenital malformations of the fetal face and ultrasound is mainly responsible for its diagnosis. It is difficult to view the fetal palate, so there is currently no unified standard for fetal palate screening, and the diagnosis of cleft palate is not included in the relevant prenatal ultrasound screening guidelines. Many prenatal diagnoses for cleft palate are missed due to the lack of effective screening methods. Therefore, it is imperative to increase the display rate of the fetal palate, which would improve the detection rate and diagnostic accuracy for cleft palate. We aim to introduce a fetal palate screening software based on the "sequential sector scan though the oral fissure", an effective method for fetal palate screening which was verified by our follow up results and three-dimensional ultrasound and to evaluate its feasibility and clinical practicability.

A software was designed and programmed based on "sequential sector scan through the oral fissure" and three-dimensional ultrasound. The three-dimensional ultrasound volume data of the fetal face were imported into the software. Then, the median sagittal plane was taken as the reference interface, the anterior upper margin of the mandibular alveolar bone was selected as the fulcrum, the interval angles, and the number of layers of the sector scan were set, after which the automatic scan was performed. Thus, the sector scan sequential planes of the mandibular alveolar bone, pharynx, soft palate, hard palate, and maxillary alveolar bone were obtained in sequence to display and evaluate the palate. In addition, the feasibility and accuracy of the software in fetal palate displaying and screening was evaluated by actual clinical cases.

Full views of the normal fetal palates and the defective parts of the cleft palates were displayed, and relatively clear sequential tomographic images and continuous dynamic videos were formed after the three-dimensional volume data of 10 normal fetal palates and 10 cleft palates were imported into the software.

The software can display fetal palates more directly which might allow for a new method of fetal palate screening and cleft palate diagnosis.

Preterm birth and fetal growth restriction are the main determinants of perinatal mortality. In the absence of therapeutic interventions, management is restricted to the observation of fetal growth and fetoplacental perfusion to determine the timing of delivery. Fetal circulatory redistribution, known as "brain sparing," represents a sign of fetal hypoxia and has been implemented in algorithms for when to deliver. In the absence of any other option, the nitric oxide donor pentaerythrityl tetranitrate (PETN), which has been shown to improve fetoplacental flow and reduce preterm birth in high-risk patients, is offered to patients as a personal therapy attempt. The aim of this study was to evaluate determinants related to pregnancy, including PETN intake during pregnancy, on immediate neonatal outcomes in a cohort of growth-restricted infants born before 32 completed weeks of gestation.

We performed a retrospective cohort study of 98 infants born with a birth weight below the 10th percentile before 32 completed weeks of gestation at our tertiary care center between 2010 and 2019. PETN was offered to all mothers with a history of severe adverse pregnancy outcomes who were at high risk of developing fetal growth restriction as an individual therapy attempt.

The mean gestational age at birth was 188.5 days, and the mean birth weight was 549 g, corresponding to a median percentile of three. In 73 (79.3%) cases, brain sparing occurred during pregnancy. A total of 22 (22.4%) neonates were stillborn, 20 died postnatally, and 37.3% developed a severe complication. Multivariable analysis revealed birth weight percentile, gestational age at birth, and gestational age when brain sparing first occurred to be robust predictors of mortality or severe neonatal morbidity. In 39 neonates of mothers taking PETN, this impact of brain sparing was not observed.

Our study is the first to demonstrate a significant association between the early occurrence of brain-sparing and severe neonatal outcomes in a cohort of very early preterm, growth-restricted newborns. The data suggest that PETN intake may ameliorate the effect of brain sparing in the affected neonates.

This study aims to investigate probe motion during full mid-trimester anomaly scans.

We undertook a prospective, observational study of obstetric sonographers at a UK University Teaching Hospital. We collected prospectively full-length video recordings of routine second-trimester anomaly scans synchronized with probe trajectory tracking data during the scan. Videos were reviewed and trajectories analyzed using duration, path metrics (path length, velocity, acceleration, jerk, and volume) and angular metrics (spectral arc, angular area, angular velocity, angular acceleration, and angular jerk). These trajectories were then compared according to the participant level of expertise, fetal presentation, and patient BMI.

A total of 17 anomaly scans were recorded. The average velocity of the probe was 12.9 ± 3.4 mm/s for the consultants versus 24.6 ± 5.7 mm/s for the fellows (p = 0.02), the average acceleration 170.4 ± 26.3 mm/s2 versus 328.9 ± 62.7 mm/s2 (p = 0.02), and the average jerk 7491.7 ± 1056.1 mm/s3 versus 14944.1 ± 3146.3 mm/s3 (p = 0.02), the working volume 9.106 ± 4.106 mm3 versus 29.106 ± 11.106 mm3 (p = 0.03), respectively. The angular metrics were not significantly different according to the participant level of expertise, the fetal presentation, or to patients BMI.

Some differences in the probe path metrics (velocity, acceleration, jerk and working volume) were noticed according to operator's level.

To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed. A total of 190 cases of fetal AVSD were analyzed. Complete AVSDs comprised 141 (74.2%) of the cohort, while partial AVSDs comprised 49 (25.7%). Karyotype was completed in 131 cases, and in 98 (74.8%) cases chromosomal abnormalities were identified, with trisomy 21 being the most common (53/131, 40.5%). Complete AVSDs were associated with trisomy 21 (45.5%, p = 0.04), Isolated cases of complete AVSDs (p = 0.03). Partial AVSDs were associated with trisomy 18 (53.1%, p < 0.001). In cases of partial AVSDs with aneuploidies, 7 (70%) had an ostium primum defect and 20 (90.9%) of AV canal type VSD. Isolated partial AVSD had no clear association with aneuploidies. There were additional cardiac anomalies in 96 (50.5%) and extracardiac anomalies in 134 (70.5%) of the cohort. There were no differences between partial and complete AVSD in rate of additional cardiac and extracardiac anomalies. AVSD was part of a heterotaxy in 47 (24.7%) of cases, and heterotaxy was associated with complete AVSD in the majority of cases (43/47, 91.4%, p = 0.003). Fetal partial AVSDs are associated with trisomy 18. Fetal complete AVSDs, even isolated, are associated with trisomy 21. There were no differences in association of other aneuploidies, additional cardiac findings, or extracardiac anomalies between prenatally diagnosed complete AVSDs and partial AVSDs.

The complete transposition of the great arteries (C-TGA) is a congenital cardiac anomaly characterized by the reversal of the main arteries. Early detection and precise management are crucial for optimal outcomes. This review emphasizes the integral role of multimodal imaging, including fetal echocardiography, transthoracic echocardiography (TTE), cardiovascular magnetic resonance (CMR), and cardiac computed tomography (CCT) in the diagnosis, treatment planning, and long-term follow-up of C-TGA. Fetal echocardiography plays a pivotal role in prenatal detection, enabling early intervention strategies. Despite technological advances, the detection rate varies, highlighting the need for improved screening protocols. TTE remains the cornerstone for initial diagnosis, surgical preparation, and postoperative evaluation, providing essential information on cardiac anatomy, ventricular function, and the presence of associated defects. CMR and CCT offer additional value in C-TGA assessment. CMR, free from ionizing radiation, provides detailed anatomical and functional insights from fetal life into adulthood, becoming increasingly important in evaluating complex cardiac structures and post-surgical outcomes. CCT, with its high-resolution imaging, is indispensable in delineating coronary anatomy and vascular structures, particularly when CMR is contraindicated or inconclusive. This review advocates for a comprehensive imaging approach, integrating TTE, CMR, and CCT to enhance diagnostic accuracy, guide therapeutic interventions, and monitor postoperative conditions in C-TGA patients. Such a multimodal strategy is vital for advancing patient care and improving long-term prognoses in this complex congenital heart disease.

Prenatal ultrasound is widely used to screen for structural anomalies before birth. While this is traditionally done in the second trimester, there is an increasing use of first-trimester ultrasound for early detection of lethal and certain severe structural anomalies.

To evaluate the diagnostic accuracy of ultrasound in detecting fetal structural anomalies before 14 and 24 weeks' gestation in low-risk and unselected pregnant women and to compare the current two main prenatal screening approaches: a single second-trimester scan (single-stage screening) and a first- and second-trimester scan combined (two-stage screening) in terms of anomaly detection before 24 weeks' gestation.

We searched MEDLINE, EMBASE, Science Citation Index Expanded (Web of Science), Social Sciences Citation Index (Web of Science), Arts & Humanities Citation Index and Emerging Sources Citation Index (Web of Science) from 1 January 1997 to 22 July 2022. We limited our search to studies published after 1997 and excluded animal studies, reviews and case reports. No further restrictions were applied. We also screened reference lists and citing articles of each of the included studies.

Studies were eligible if they included low-risk or unselected pregnant women undergoing a first- and/or second-trimester fetal anomaly scan, conducted at 11 to 14 or 18 to 24 weeks' gestation, respectively. The reference standard was detection of anomalies at birth or postmortem.

Two review authors independently undertook study selection, quality assessment (QUADAS-2), data extraction and evaluation of the certainty of evidence (GRADE approach). We used univariate random-effects logistic regression models for the meta-analysis of sensitivity and specificity.

Eighty-seven studies covering 7,057,859 fetuses (including 25,202 with structural anomalies) were included. No study was deemed low risk across all QUADAS-2 domains. Main methodological concerns included risk of bias in the reference standard domain and risk of partial verification. Applicability concerns were common in studies evaluating first-trimester scans and two-stage screening in terms of patient selection due to frequent recruitment from single tertiary centres without exclusion of referrals. We reported ultrasound accuracy for fetal structural anomalies overall, by severity, affected organ system and for 46 specific anomalies. Detection rates varied widely across categories, with the highest estimates of sensitivity for thoracic and abdominal wall anomalies and the lowest for gastrointestinal anomalies across all tests. The summary sensitivity of a first-trimester scan was 37.5% for detection of structural anomalies overall (95% confidence interval (CI) 31.1 to 44.3; low-certainty evidence) and 91.3% for lethal anomalies (95% CI 83.9 to 95.5; moderate-certainty evidence), with an overall specificity of 99.9% (95% CI 99.9 to 100; low-certainty evidence). Two-stage screening had a combined sensitivity of 83.8% (95% CI 74.7 to 90.1; low-certainty evidence), while single-stage screening had a sensitivity of 50.5% (95% CI 38.5 to 62.4; very low-certainty evidence). The specificity of two-stage screening was 99.9% (95% CI 99.7 to 100; low-certainty evidence) and for single-stage screening, it was 99.8% (95% CI 99.2 to 100; moderate-certainty evidence). Indirect comparisons suggested superiority of two-stage screening across all analyses regarding sensitivity, with no significant difference in specificity. However, the certainty of the evidence is very low due to the absence of direct comparisons.

A first-trimester scan has the potential to detect lethal and certain severe anomalies with high accuracy before 14 weeks' gestation, despite its limited overall sensitivity. Conversely, two-stage screening shows high accuracy in detecting most fetal structural anomalies before 24 weeks' gestation with high sensitivity and specificity. In a hypothetical cohort of 100,000 fetuses, the first-trimester scan is expected to correctly identify 113 out of 124 fetuses with lethal anomalies (91.3%) and 665 out of 1776 fetuses with any anomaly (37.5%). However, 79 false-positive diagnoses are anticipated among 98,224 fetuses (0.08%). Two-stage screening is expected to correctly identify 1448 out of 1776 cases of structural anomalies overall (83.8%), with 118 false positives (0.1%). In contrast, single-stage screening is expected to correctly identify 896 out of 1776 cases before 24 weeks' gestation (50.5%), with 205 false-positive diagnoses (0.2%). This represents a difference of 592 fewer correct identifications and 88 more false positives compared to two-stage screening. However, it is crucial to acknowledge the uncertainty surrounding the additional benefits of two-stage versus single-stage screening, as there are no studies directly comparing them. Moreover, the evidence supporting the accuracy of first-trimester ultrasound and two-stage screening approaches primarily originates from studies conducted in single tertiary care facilities, which restricts the generalisability of the results of this meta-analysis to the broader population.

For prenatal screening, ultrasound (US) imaging allows for real-time observation of developing fetal anatomy. Understanding normal and aberrant forms through extensive fetal structural assessment enables for early detection and intervention. However, the reliability of anomaly diagnosis varies depending on operator expertise and device limits. First trimester scans in conjunction with circulating biochemical markers are critical in identifying high-risk pregnancies, but they also pose technical challenges. Recent engineering advancements in automated diagnosis, such as artificial intelligence (AI)-based US image processing and multimodal data fusion, are developing to improve screening efficiency, accuracy, and consistency. Still, creating trust in these data-driven solutions is necessary for integration and acceptability in clinical settings. Transparency can be promoted by explainable AI (XAI) technologies that provide visual interpretations and illustrate the underlying diagnostic decision making process. An explanatory framework based on deep learning is suggested to construct charts depicting anomaly screening results from US video feeds. AI modelling can then be applied to these charts to connect defects with probable deformations. Overall, engineering approaches that increase imaging, automation, and interpretability hold enormous promise for altering traditional workflows and expanding diagnostic capabilities for better prenatal care.

The aim of this study was address the challenges posed by the manual labeling of fetal ultrasound images by introducing an unsupervised approach, the fetal ultrasound semantic clustering (FUSC) method. The primary objective was to automatically cluster a large volume of ultrasound images into various fetal views, reducing or eliminating the need for labor-intensive manual labeling.

The FUSC method was developed by using a substantial data set comprising 88,063 images. The methodology involves an unsupervised clustering approach to categorize ultrasound images into diverse fetal views. The method's effectiveness was further evaluated on an additional, unseen data set consisting of 8187 images. The evaluation included assessment of the clustering purity, and the entire process is detailed to provide insights into the method's performance.

The FUSC method exhibited notable success, achieving >92% clustering purity on the evaluation data set of 8187 images. The results signify the feasibility of automatically clustering fetal ultrasound images without relying on manual labeling. The study showcases the potential of this approach in handling a large volume of ultrasound scans encountered in clinical practice, with implications for improving efficiency and accuracy in fetal ultrasound imaging.

The findings of this investigation suggest that the FUSC method holds significant promise for the field of fetal ultrasound imaging. By automating the clustering of ultrasound images, this approach has the potential to reduce the manual labeling burden, making the process more efficient. The results pave the way for advanced automated labeling solutions, contributing to the enhancement of clinical practices in fetal ultrasound imaging. Our code is available at https://github.com/BioMedIA-MBZUAI/FUSC.

Preterm birth is a major cause of perinatal morbidity and mortality. It is unclear whether the introduction of a universal transvaginal ultrasound cervical length screening program in women at low risk for preterm delivery is associated with a reduction in the frequency of preterm birth.

To test the hypothesis that the introduction of a midtrimester universal transvaginal ultrasound cervical length screening program in asymptomatic singleton pregnancies without prior preterm delivery would reduce the rate of preterm birth at <37 weeks of gestation.

This study was a multicenter nonblinded randomized trial of screening of asymptomatic singleton pregnancies without prior spontaneous preterm birth, who were randomized to either cervical length screening program (ie, intervention group) or no screening (ie, control group). Participants were randomized at the time of their routine anatomy scan between 18 0/7 and 23 6/7 weeks of gestation. Women randomized in the screening group received cervical length measurement. Those who were found to have cervical length ≤25 mm were offered 200 mg vaginal progesterone daily along with cervical pessary. The primary outcome was preterm birth at <37 weeks. The risk of primary outcome was quantified by the relative risk with 95% confidence interval, and was based on the intention-to-screen principle.

A total of 1334 asymptomatic women with singleton pregnancies and without prior preterm birth, were included in the trial. Out of the 675 women randomized in the transvaginal ultrasound cervical length screening group, 13 (1.9%) were found to have transvaginal ultrasound cervical length ≤25 mm during the screening. Preterm birth at <37 weeks of gestation occurred in 48 women in the transvaginal ultrasound cervical length screening group (7.5%), and 54 women in the control group (8.7%) (relative risk, 0.86; 95% confidence interval, 0.59-1.25). Women randomized in the transvaginal ultrasound cervical length screening group had no significant differences in the incidence of preterm birth at less than 34, 32, 30, 28, and 24 weeks of gestation.

The introduction of a universal transvaginal ultrasound cervical length screening program at 18 0/6 to 23 6/7 weeks of gestation in singleton pregnancies without prior spontaneous preterm birth, with treatment for those with cervical length ≤25 mm, did not result in significant lower incidence of preterm delivery than the incidence without the screening program.

Three-dimensional (3D) ultrasound imaging has contributed to our understanding of fetal developmental processes by providing rich contextual information of the inherently 3D anatomies. However, its use is limited in clinical settings, due to the high purchasing costs and limited diagnostic practicality. Freehand 2D ultrasound imaging, in contrast, is routinely used in standard obstetric exams, but inherently lacks a 3D representation of the anatomies, which limits its potential for more advanced assessment. Such full representations are challenging to recover even with external tracking devices due to internal fetal movement which is independent from the operator-led trajectory of the probe. Capitalizing on the flexibility offered by freehand 2D ultrasound acquisition, we propose ImplicitVol to reconstruct 3D volumes from non-sensor-tracked 2D ultrasound sweeps. Conventionally, reconstructions are performed on a discrete voxel grid. We, however, employ a deep neural network to represent, for the first time, the reconstructed volume as an implicit function. Specifically, ImplicitVol takes a set of 2D images as input, predicts their locations in 3D space, jointly refines the inferred locations, and learns a full volumetric reconstruction. When testing natively-acquired and volume-sampled 2D ultrasound video sequences collected from different manufacturers, the 3D volumes reconstructed by ImplicitVol show significantly better visual and semantic quality than the existing interpolation-based reconstruction approaches. The inherent continuity of implicit representation also enables ImplicitVol to reconstruct the volume to arbitrarily high resolutions. As formulated, ImplicitVol has the potential to integrate seamlessly into the clinical workflow, while providing richer information for diagnosis and evaluation of the developing brain.

The primary aim of this study was to estimate the incidence of posterior fossa anomalies (PFA) and assess the associated outcomes in King Abdulaziz Medical City (KAMC), Riyadh. All fetuses diagnosed by prenatal ultrasound with PFA from 2017 to 2021 in KAMC were analyzed retrospectively. PFA included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC), and isolated vermian hypoplasia (VH). The 65 cases of PFA were 41.5% DWM, 46.2% MCM, 10.8% VH, and 1.5% BPC. The annual incidence rates were 2.48, 2.64, 4.41, 8.75, and 1.71 per 1000 anatomy scans for 2017, 2018, 2019, 2020, and 2021, respectively. Infants with DWM appeared to have a higher proportion of associated central nervous system (CNS) abnormalities (70.4% vs. 39.5%; p-value = 0.014) and seizures than others (45% vs. 17.9%; p-value = 0.041). Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene. Our result showed that the most common PFA is DWM and MCM. The autosomal recessive pathogenic mutation is the major cause of genetic disease in Saudi patients diagnosed with PFA.

Chromosomal microarray analysis (CMA) has emerged as a critical instrument in prenatal diagnostic procedures, notably in assessing congenital heart diseases (CHD). Nonetheless, current research focuses solely on CHD, overlooking the necessity for thorough comparative investigations encompassing fetuses with varied structural abnormalities or those without apparent structural anomalies.

This study sought to assess the relation of single nucleotide polymorphism-based chromosomal microarray analysis (SNP-based CMA) in identifying the underlying causes of fetal cardiac ultrasound abnormalities.

A total of 2092 pregnant women who underwent prenatal diagnosis from 2017 to 2022 were included in the study and divided into four groups based on the presence of ultrasound structural abnormalities and the specific type of abnormality. The results of the SNP-Array test conducted on amniotic fluid samples from these groups were analyzed.

Findings from the study revealed that the non-isolated CHD group exhibited the highest incidence of aneuploidy, overall chromosomal abnormalities, and trisomy 18, demonstrating statistically significant differences from the other groups (p < 0.001). Regarding the distribution frequency of copy number variation (CNV) segment size, no statistically significant distinctions were observed between the isolated CHD group and the non-isolated CHD group (p > 0.05). The occurrence rates of 22q11.2 and 15q11.2 were also not statistically different between the isolated CHD group and the non-isolated congenital heart defect group (p > 0.05).

SNP-based CMA enhances the capacity to detect abnormal CNVs in CHD fetuses, offering valuable insights for diagnosing chromosomal etiology and facilitating genetic counseling. This research contributes to the broader understanding of the utility of SNP-based CMA in the context of fetal cardiac ultrasound abnormalities.

This study aimed to ascertain the conus medullaris position by counting the number of ossification centers in the vertebral bodies below the conus medullaris endpoint (N) and assess its utility in screening for closed spinal dysraphism and tethered cord syndrome.

A total of 900 normal fetuses and 146 fetuses with closed spinal dysraphism or tethered cord syndrome were included in this study. The N values were tallied and compared along the spinal longitudinal plane. The receiver operating characteristic curve was utilized, and the cut-off value of N was analyzed.

The counting of N was successfully performed in 856 normal and 146 abnormal fetuses. In the normal group, an increase in N with gestational age was observed. Specifically, in the subgroup of 17-20 wk fetuses, N was ≥6 in 117 out of 131 cases. This figure increased to 211 out of 213 in 21-24 wk and 512 out of 512 in 25-41 wk, respectively. Cases with N ≥7 accounted for 715 out of 856 fetuses in the 17-41 wk range. In the abnormal group, N was less than 7 in 152 out of 163 fetuses, showing statistical differences between the two groups. With a cut-off value of 6.5, specificity and sensitivity reached 93.3% and 83.5%.

The counting of N was found to be a straightforward and efficient method for evaluating the position of the conus medullaris.

To collect validity evidence for a simulator-based obstetric ultrasound competency assessment tool (OUCAT).

89 sonographers from three centers (XY, MC, DT), including novices (n=21), experienced trainees (n=44), and experts (n=24), participated in the competency assessment. Validity evidence of OUCAT was collected according to Standards for Educational and Psychological Testing. Content validity was ensured by reviewing guidelines and reaching expert consensus. The response process was ensured via training raters. Internal structure was explored through internal consistency, inter-rater reliability, and test-retest reliability. Relations to other variables were explored by comparing OUCAT scores of sonographers with different experience. Evidence for consequences was collected by determining the pass/fail level.

OUCAT included 123 items, of which 117 items could effectively distinguish novices from experts (P<0.05). The internal consistency was represented by the Cronbach's α coefficient (0.978). The inter-rater reliability was high, with XY being 0.868, MC being 0.877, and DT being 0.937 (P<0.001). Test-retest reliability was 0.732 (P=0.001). The performance of experts was significantly better than experienced trainees, and the performance of experienced trainees was significantly better than novices (70.3±10.7 vs. 39.8±15.0 vs. 20.5±10.6, P<0.001). The pass/fail level determined by contrast group method was 45 points. The passing rate of novices, experienced trainees and experts was 0% (0/21), 31.8% (14/44), and 100% (24/24), respectively.

Simulator-based OUCAT exhibits good reliability and validity in assessing obstetric ultrasound skills.

Microcephaly is a sign, not a diagnosis. Its incidence varies widely due to the differences in the definition and the population being studied. It is strongly related to neurodevelopmental disorders. Differences in definitions and measurement techniques between fetuses and newborns pose a great challenge for the diagnosis and prognostication of fetal microcephaly. A false positive diagnosis can result (in countries where it is legal) in erroneous termination of pregnancy, where a false negative diagnosis might lead to the birth of a microcephalic newborn. Microcephaly in growth restricted fetuses deserves special attention and separate evaluation as it is an important prognostic factor, and not necessarily part of the general growth retardation. Several genetic syndromes incorporating microcephaly and intrauterine growth retardation (IUGR) are discussed. Deceleration of the head circumference (HC) growth rate even when the HC is still within normal limits might be the only clue for developing microcephaly and should be considered during fetal head growth follow up. Combining additional parameters such as a positive family history, associated anomalies, and new measurement parameters can improve prediction in about 50% of cases, and thus should be part of the prenatal workup. Advances in imaging modalities and in prenatal genetic investigation along with the emergence of new growth charts can also improve diagnostic accuracy. In this article, we review the different definitions and etiologies of fetal microcephaly, discuss difficulties in diagnosis, investigate the reasons for the low yield of prenatal diagnosis, and provide improvement suggestions. Finally, we suggest an updated algorithm that will aid in the diagnosis and management of fetal microcephaly.

This retrospective study aimed to assess disparities between prenatal ultrasound and autopsy findings in pregnancies that resulted in fetal loss, and to evaluate the diagnostic performance of prenatal ultrasound using postmortem examinations as a gold standard.

Our study included 136 autopsy cases following a fetal loss that occurred at our tertiary medical center for 8 years. A comparison between the prenatal ultrasound and autopsy findings was made, and all cases were classified according to the degree of agreement. The diagnostic performance of prenatal ultrasound was calculated at the level of organ system and specific malformations.

The primary sonographic diagnosis was confirmed in 91.9% of the cases (n = 125). General agreement was highest among central nervous system (CNS), cardiovascular and musculoskeletal systems (85.7%, n = 36, 18, and 12, respectively) and lowest among facial, multiple anomalies, genitourinary and gastrointestinal systems (50.0%, 74.3%, 78.6%, and 80.0%, n = 2, 26, 11, and 4, respectively). The sensitivity of ultrasound was highest in the CNS (93.2%) and musculoskeletal (87.0%) and lowest in the facial (32.3%) and pulmonary (13.0%) systems. Specifically, low diagnostic rates were noted in detecting ventriculomegaly, valvular anomalies, renal dysplasia, spleen and adrenal anomalies, and digital and facial defects.

Our study observed an overall high agreement between prenatal ultrasound and autopsy while contributing to our comprehensive understanding of its strengths and limitations across various types of organ systems and specific malformations.

To evaluate the local incidence of orofacial cleft (OFC) encountered in fetal morphology scan and prenatal diagnosis, genetic etiology of fetuses with or without other structural abnormalities, and their pregnancy outcomes.

Retrospective cohort study.

Two maternal fetal medicine units, tertiary hospitals, Hong Kong.

All pregnant women with antenatal diagnosis of fetal OFC between January 2016 and December 2020 (N = 66).

OFC has an incidence of 0.13% among pregnancies in Hong Kong and 28.8% (19/66) were syndromic cleft that exhibited other fetal structural anomalies. There were 55 cases (84.6%) who opted for invasive prenatal diagnostic testing. Genetic defects were identified in 25.8% (17/66) of this cohort, including 14 pathogenic variants. The detection rate in the syndromic cases is 68.4% (13/19) which was significantly higher than 8.5% (4/47) among non-syndromic cases. Aneuploidies would be the most common cause, accounting for 9.1% (6/66). Chromosomal microarray analysis (CMA) provided an incremental diagnostic yield of 6.1% compared to conventional karyotyping. A total of 29 live births including 3 cases of a variant of uncertain significance and 26 cases without genetic abnormalities detected have continued pregnancy to birth. There were 87.5% (21/24) without detectable pathogenic genetic abnormality reported good long-term outcomes. The chance of OFC fetuses having a good long-term outcome was significantly higher if no genomic variant was detected (P < .001).

Invasive prenatal tests with CMA should be offered to pregnancies with OFC regardless of the type. It has provided incremental diagnostic yield over conventional karyotyping and helped in prenatal and genetic counseling. A negative result in non-syndromic OFC favors couples to keep the pregnancy.

The study aims to assess the ultrasonic features of fetal cardiac rhabdomyoma (CR), track the perinatal outcome and postnatal disease progression, investigate the clinical utility of ultrasound, MRI and tuberous sclerosis complex (TSC) gene analysis in CR evaluation, and offer evidence for determing of fetal CR prognosis.

We conducted a retrospective analysis of prenatal ultrasound-diagnosed fetal CR cases in our hospital from June 2011 to June 2022, tracked the perinatal outcomes, regularly followed live infants to analyze cardiac lesion changes and disease progression, and compared the sensitivities of ultrasound, MRI and their combination in the detecting of intracranial sclerosing nodules.

Our study included 54 fetuses with CR: 32 pregnancies were terminated, 22 were delivered, 35 were diagnosed with TSC, 13 had simple CR without TSC, and in 6 cases, remained unclear whether TSC accompanied the CR due to insufficient evidence. 45 fetuses (83.3%) had multiple lesions, while 9 fetuses (16.7%) presented with a single lesion. Twelve cases had intracardiac complications, all associated with multiple lesions, and these cases exhibited larger maximum tumor diameters than the non-complicated group. Multiple intracardiac lesions were more prevalent in the TSC group than in the simple CR group. However, there was no significant difference in maximum tumor diameter between the two groups. Among 30 fetuses who underwent fetal brain MRI, 23 were eventually diagnosed with TSC, with 11 fetuses showing intracranial sclerosis nodules by ultrasound and 15 by MRI, and the diagnostic consistency was moderate (k = 0.60). Twenty-two fetuses were born and followed up for 6-36 months. CR lesions diminished or disappeared in 18 infants (81.8%), while they remained unchanged in 4 infants (18.2%). Ten out of 12 (83.3%) surviving children diagnosed with TSC developed epilepsy, and 7 (58.3%) had neurodevelopmental dysfunction.

The majority of CR cases involve multiple lesions, which are a primary risk factor for TSC. Through prenatal ultrasound examination is crucial for assessing fetal CR prognosis. Although ultrasound combined with MRI can detect intracranial sclerosis nodules in TSC fetuses, its sensitivity is limited. TSC gene sequencing is an essential diagnostic method. Simple CR cases without TSC generally have a favorable prognosis.