Follow-up of fetuses with de novo copy number variations of unknown significance detected by chromosomal microarray analysis.
10.3760/cma.j.cn5113874-20220901-00595
- Author:
Leilei GU
1
;
Wei LIU
;
Chunxiang ZHOU
;
Peixuan CAO
;
Xiangyu ZHU
;
Jie LI
Author Information
1. Prenatal Diagnosis Center, Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Nanjing University Medical School, Nanjing, Jiangsu 210008, China. jie1967@126.com.
- Publication Type:Journal Article
- MeSH:
Pregnancy;
Female;
Humans;
DNA Copy Number Variations;
Follow-Up Studies;
Prenatal Diagnosis/methods*;
Chromosomes;
Microarray Analysis/methods*;
Fetus;
Chromosome Aberrations
- From:
Chinese Journal of Medical Genetics
2023;40(4):442-445
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the prognosis of fetuses identified with de novo variants of unknown significance (VOUS) by chromosome microarray analysis (CMA).
METHODS:A total of 6 826 fetuses who underwent prenatal CMA detection at the Prenatal Diagnosis Center of Drum Tower Hospital from July 2017 to December 2021 were selected as the study subjects. The results of prenatal diagnosis, and outcome of fetuses identified with VOUS of de novo origin were followed up.
RESULTS:Among the 6 826 fetuses, 506 have carried VOUS, of which 237 were detected for the parent-of-origin and 24 were found to be de novo. Among the latters, 20 were followed up for 4 to 24 months. Four couples had opted elective abortion, 4 had developed clinical phenotypes after birth, and 12 were normal.
CONCLUSION:Fetuses with VOUS should be continuously follow-up, in particular those carrying de novo VOUS, in order to clarify their clinical significance.
