Chen C, Tang T, Song QL, He YJ, Cai Y. Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report. World J Clin Cases 2023; 11(28): 6895-6901 [PMID: 37901017 DOI: 10.12998/wjcc.v11.i28.6895]
Corresponding Author of This Article
Yan Cai, MD, PhD, Chief Physician, Professor, Genetic and Prenatal Diagnosis Center, Affiliated Hospital of North Sichuan Medical College, No. 1 South Maoyuan Road, Shunqing District, Nanchong 637000, Sichuan Province, China. caiyandd@163.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. Oct 6, 2023; 11(28): 6895-6901 Published online Oct 6, 2023. doi: 10.12998/wjcc.v11.i28.6895
Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report
Cui Chen, Tao Tang, Qi-Ling Song, Yong-Jun He, Yan Cai
Cui Chen, Tao Tang, Qi-Ling Song, Yong-Jun He, Yan Cai, Genetic and Prenatal Diagnosis Center, Affiliated Hospital of North Sichuan Medical College, Nanchong 637000, Sichuan Province, China
Author contributions: Chen C and Tang T contributed to manuscript writing and editing and data collection; Song QL and He YJ contributed to image collection; Cai Y contributed to conceptualization and supervision; and all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest to disclose.
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: Yan Cai, MD, PhD, Chief Physician, Professor, Genetic and Prenatal Diagnosis Center, Affiliated Hospital of North Sichuan Medical College, No. 1 South Maoyuan Road, Shunqing District, Nanchong 637000, Sichuan Province, China. caiyandd@163.com
Received: June 19, 2023 Peer-review started: June 19, 2023 First decision: August 16, 2023 Revised: August 23, 2023 Accepted: September 14, 2023 Article in press: September 14, 2023 Published online: October 6, 2023 Processing time: 97 Days and 20.9 Hours
Core Tip
Core Tip: This case represented an interesting and clinically rare occurrence. The short tandem repeat marker AMXY (Xp22.2/Yp11.2) located on the sex chromosome exhibited a trisomic biallelic pattern in quantitative fluorescent polymerase chain reaction (QF-PCR), indicating the possible existence of two Y chromosomes. However, by analyzing the results of copy number variation sequencing and karyotyping, the fetus was confirmed to have only a partial duplication of the Y chromosome instead of the 47,XYY karyotype. The duplications identified do not include any genes annotated in the Online Mendelian Inheritance in Man database and will not cause the occurrence of birth defects. Therefore, when an abnormality is detected in the QF-PCR data mentioned above, additional methods should be used for comprehensive judgment to avoid misdiagnosis. The strength of the present report is that it provides valuable experience for prenatal diagnosis.
