Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 26, 2022; 10(24): 8641-8647
Published online Aug 26, 2022. doi: 10.12998/wjcc.v10.i24.8641
Discrepancy between non-invasive prenatal testing result and fetal karyotype caused by rare confined placental mosaicism: A case report
Zhen Li, Guang-Rui Lai
Zhen Li, Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Guang-Rui Lai, Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Author contributions: Li Z provided obstetrical service, collected samples and wrote the paper; Lai GR did the examinations, genetic consult and revised the paper.
Supported by the 345 Talent Project of Shengjing Hospital, No. M0298.
Informed consent statement: All participants were fully informed of the study with written consent obtained from each participant. They gave consent for their de-identified personal or clinical details to be published in this study.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Guang-Rui Lai, MD, PhD, Assistant Professor, Department of Clinical Genetics, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Shenyang 110004, Liaoning Province, China. laiguangrui@126.com
Received: December 14, 2021
Peer-review started: December 14, 2021
First decision: May 30, 2022
Revised: June 1, 2022
Accepted: July 18, 2022
Article in press: July 18, 2022
Published online: August 26, 2022
Core Tip

Core Tip: We identified that the patient had a rare confined placental mosaicism consisting of 47,XY,+21; 47,XXY; and 46,XY, which caused a discrepancy between non-invasive prenatal testing (NIPT) and fetal karyotype. Although NIPT has high sensitivity and specificity, false negatives and false positives are still possible. It is important to remember that NIPT is just a screening test, and any positive results need to be confirmed with invasive testing. Patients with negative NIPT results still require follow-up ultrasound examination.