The value of chromosomal microarray analysis and fluorescence in situ hybridization for the prenatal diagnosis of chromosomal mosaicisms.
10.3760/cma.j.cn511374-20230105-00004
- Author:
Jianli ZHENG
1
;
Ning AN
;
Min LI
;
Mengjun XU
;
Yongjuan GUAN
;
Jianbin LIU
Author Information
1. Department of Prenatal Diagnosis, Yancheng Maternity and Child Health Care Hospital, Yancheng, Jiangsu 224001, China. anningyc@126.com.
- Publication Type:Journal Article
- MeSH:
Female;
Pregnancy;
Humans;
Mosaicism;
In Situ Hybridization, Fluorescence;
Chromosome Disorders/genetics*;
Prenatal Diagnosis/methods*;
Chromosome Aberrations;
Sex Chromosome Aberrations;
Microarray Analysis/methods*;
Chromosomes
- From:
Chinese Journal of Medical Genetics
2023;40(5):527-531
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) for the prenatal diagnosis of chromosomal mosaicisms.
METHODS:A total of 775 pregnant women who had visited the Prenatal Diagnosis Center of Yancheng Maternal and Child Health Care Hospital from January 2018 to December 2020 were selected as study subjects. Chromosome karyotyping analysis and CMA were carried out for all women, and FISH was used to validate the suspected mosaicism cases.
RESULTS:Among the 775 amniotic fluid samples, karyotyping has identified 13 mosaicism cases, which yielded a detection rate of 1.55%. Respectively, there were 4, 3, 4 and 2 cases for sex chromosome number mosaicisms, abnormal sex chromosome structure mosaicisms, abnormal autosomal number mosaicisms and abnormal autosomal structure mosaicisms. CMA has only detected only 6 of the 13 cases. Among 3 cases verified by FISH, 2 cases were consistent with the karyotyping and CMA results, and clearly showed low proportion mosaicism, and 1 case was consistent with the result of karyotyping but with a normal result by CMA. Eight pregnant women had chosen to terminate the pregnancy (5 with sex chromosome mosaicisms and 3 with autosomal mosaicisms).
CONCLUSION:For fetuses suspected for chromosomal mosaicisms, CMA, FISH and G-banding karyotyping should be combined to determine the type and proportion of mosaicisms more precisely in order to provide more information for genetic counseling.
