Genetic testing of chorionic villi from abortuses during early pregnancy.
10.3760/cma.j.issn.1003-9406.2019.06.004
- Author:
Yuxia YANG
1
;
Suzhen QU
;
Li WANG
;
Yilin GUO
;
Shuwen XUE
;
Aojie CAI
;
Siying CUI
;
Xiangdong KONG
Author Information
1. Center for Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Henan 450000, China. Email: kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Chorionic Villi;
Chromosome Aberrations;
Chromosome Disorders;
DNA Copy Number Variations;
Female;
Genetic Testing;
Humans;
Karyotyping;
Polymorphism, Single Nucleotide;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2019;36(6):547-551
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the prevalence and characteristics of chromosomal abnormalities in abortuses during early pregnancy with single nucleotide polymorphism microarray (SNP-array).
METHODS:For 520 abortuses, copy number variations (CNVs) in chorionic villi were analyzed with SNP-array.
RESULTS:In 510 (98.1%) of the samples, the analysis was successful. Among these, 57.6% (294/510) of the samples were found to harbor clinically significant chromosomal abnormalities. 38.8% of the samples (198/510) had a normal result. 2.4% (12/510) of the samples harbored benign CNVs, and 1.2% (6/510) harbored variants of uncertain significance (VOUS). Aneuploidies, polyploidies, pathogenic CNVs and uniparental disomies (UPD) had accounted for 75.2% (221/294), 13.9% (41/294), 8.2% (24/294), and 2.7% (8/294) of the samples, respectively. 45,XO was the most common finding, which was followed by trisomy 16 and trisomy 22. 69,XXY was the most common polyploidy.
CONCLUSION:Chromosomal abnormalities are the main cause for early miscarriage, among which aneuploidies are most common. The prevalence of aneuploidies is significantly increased among women over 35. SNP-array analysis has the advantage of high success rate, high resolution and great accuracy, but the clinical significance of microdeletions/microduplications found by SNP-array can be difficult for interpretation.
