Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 16, 2024; 12(8): 1544-1548
Published online Mar 16, 2024. doi: 10.12998/wjcc.v12.i8.1544
Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism: Two case reports
Fei Hou, Yan Li, Hua Jin
Fei Hou, Yan Li, Hua Jin, Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China
Co-first authors: Fei Hou and Yan Li.
Author contributions: Hou F and Li Y contributed equally to this work; Hou F performed the research and wrote the manuscript; Li Y analyzed the data and wrote the manuscript; Jin H designed the research study. All authors have read and approve the final manuscript.
Informed consent statement: The patient and her legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: Hua Jin, PhD, Doctor, Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, No. 2 Jianguoxiaojing 3 Road, Shizhong District, Jinan 250001, Shandong Province, China. tonyshirly@163.com
Received: December 29, 2023
Peer-review started: December 29, 2023
First decision: January 16, 2024
Revised: February 8, 2024
Accepted: February 21, 2024
Article in press: February 21, 2024
Published online: March 16, 2024
Processing time: 74 Days and 3.2 Hours
Abstract
BACKGROUND

The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific, so prenatal diagnosis is very difficult.

CASE SUMMARY

Two pregnant women with abnormal prenatal screening results were included. One was a 22-year-old woman (G1P0). At 31st week of gestation, ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm. The other pregnant woman was 33 years old (G2P1L1A0), and her fetus was found to have a cardiac malformation at the 24th week of gestation. Copy number variation sequencing, whole-exome sequencing and karyotype analysis were carried out after amniocentesis, and both fetuses were diagnosed with trisomy 7 mosaicism. After parental counseling, one woman continued the pregnancy, and the other woman terminated the pregnancy.

CONCLUSION

In trisomy 7 mosaicism, the low proportion of trisomy does not lead to abortion, but can result in abnormal fetal development, which can be detected via ultrasound. Therefore, clinicians need to pay more attention to various aspects of fetal growth and development, combining with imaging, cellular, molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.

Keywords: Trisomy 7 mosaicism; Copy number variation sequencing; Whole-exome sequencing; Karyotype analysis; Prenatal diagnosis; Case report

Core Tip: Herein, two fetuses were prenatally diagnosed according to abnormal ultrasound findings, including a widened posterior horn of the left lateral ventricle, renal dysplasia and a cardiac malformation. Copy number variation sequencing, whole-exome sequencing and karyotype analysis were carried out, and both fetuses were confirmed to have trisomy 7 mosaicism.