Li Z, Lai GR. Discrepancy between non-invasive prenatal testing result and fetal karyotype caused by rare confined placental mosaicism: A case report. World J Clin Cases 2022; 10(24): 8641-8647 [PMID: 36157819 DOI: 10.12998/wjcc.v10.i24.8641]
Corresponding Author of This Article
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
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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 bythe 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 Processing time: 244 Days and 21.7 Hours
Abstract
BACKGROUND
Confined placental mosaicism (CPM) is one of the major reasons for discrepancies between the results of non-invasive prenatal testing (NIPT) and fetal karyotype analysis.
CASE SUMMARY
We encountered a primiparous singleton pregnant woman with a rare CPM consisting of 47,XY,+21; 47,XXY; and 46,XY, who obtained a false-positive result on NIPT with a high risk for trisomy 21. Copy-number variation sequencing on amniotic fluid cells, fetal tissue, and placental biopsies showed that the fetal karyotype was 47,XXY, while the placenta was a rare mosaic of 47,XY,+21; 47,XXY; and 46,XY.
CONCLUSION
The patient had a rare CPM consisting of 47,XY,+21; 47,XXY; and 46,XY, which caused a discrepancy between the result of NIPT and the actual fetal karyotype. It is important to remember that NIPT is a screening test, not a diagnostic test. Any positive result should be confirmed with invasive testing, and routine ultrasound examination is still necessary after a negative result.
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.
