Application of copy number variation sequencing combined with short tandem repeat in analysis of abortion and prenatal diagnosis.
10.3760/cma.j.cn511374-20200418-00279
- Author:
Yuanbao ZHANG
1
;
Xiaolian XU
;
Cun HUANG
;
Yong LI
;
Xinzhe HONG
;
Liangwei MAO
;
Jiong GAO
;
Weijun PAN
Author Information
1. Center of Prenatal Diagnosis, Ma'anshan Maternal and Child Health Care Hospital, Ma'anshan, Anhui 243011, China. 1092832863@qq.com.
- Publication Type:Journal Article
- MeSH:
Abortion, Spontaneous/genetics*;
DNA Copy Number Variations;
Female;
Humans;
Karyotyping;
Microsatellite Repeats;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(6):577-580
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the cause of abortion and strategy of prenatal diagnosis for pregnant women with high risk for chromosomal abnormalities by using copy number variation sequencing (CNV-seq) and short tandem repeats (STR) analysis.
METHODS:A total of 36 samples were collected, including amniotic fluid, abortion tissue, whole blood, chorionic villi and umbilical cord blood. CNV-seq and STR analysis were carried out to detect microdeletions, microduplications, chromosomal aneuploidies, mosaicisms and triploidies.
RESULTS:Among all samples, 1 was detected with 4p15.1p16.3 and 14q11.1q22.1 duplication, 1 was detected with 19p13.3 deletion, 8 were detected with chromosomal aneuploidies, 4 were detected with mosaicisms, two were detected with triploidies. No definite pathogenic CNVs were detected in 20 samples, which yielded a positive detection rate of 44.44%.
CONCLUSION:As a high-throughput detection method, CNV-seq has the advantages of rapidity, simplicity and high accuracy. It may suit prenatal diagnosis and analysis of abortion factors in combination with STR analysis.
