Chromosomal microarray analysis for the causes of miscarriage or stillbirth.
10.3760/cma.j.issn.1003-9406.2020.04.006
- Author:
Yanhua XIAO
1
;
Panlai SHI
;
Ding LI
;
Jianhong WANG
;
Rui LI
;
Xiangdong KONG
Author Information
1. Jiaozuo Maternal and Child Health Care Hospital, Henan 454000, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Abortion, Spontaneous;
genetics;
Chromosome Aberrations;
Chromosome Disorders;
diagnosis;
genetics;
DNA Copy Number Variations;
Female;
Humans;
Microarray Analysis;
Pregnancy;
Stillbirth;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(4):389-391
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of chromosomal microarray analysis (CMA) for the analysis of 824 samples from miscarriage or stillbirth.
METHODS:Copy number variations (CNVs) in the abortic chorionic villi or stillbirth tissues were detected by CMA.
RESULTS:All specimens were successfully analyzed, among which 381 (46.2%) were diagnosed with chromosomal abnormalities, which included 312 (81.9%) numerical abnormalities, 66 (17.3%) structural abnormalities and 3 (0.8%) uniparental disomies. Among numerical chromosomal abnormalities, aneuploidies was most common (92.0%), with trisomy 16 and 45,X accounting for 41 (13.1%) and 63 (20.2%) of the cases, respectively. Among the 66 structural chromosomal aberrations, there were 26 (39.4%) CNVs duplications, 20 (30.3%) CNVs deletions, and 20 (30.3%) CNVs duplication and deletions. 33 CNVs were predicted as have a high chance to lead to a disease.
CONCLUSION:CMA is a reliable, robust, and high-resolution method for the analysis of miscarriage or stillbirth samples. Numerical aberrations, in particular chromosomal aneuploides, are the main cause for spontaneous abortions and stillbirths.
