Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations.
10.3760/cma.j.cn511374-20200801-00572
- Author:
Suzhen QU
1
;
Panlai SHI
;
Tianyuan ZHANG
;
Zhi GAO
;
Hongying GUAN
;
Xiangdong KONG
Author Information
1. Department of Obstetrics and Gynecology, Xinyang Central Hospital, Xinyang, Henan 464000, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Chromosome Aberrations;
Chromosome Disorders/genetics*;
DNA Copy Number Variations;
Female;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis;
Translocation, Genetic
- From:
Chinese Journal of Medical Genetics
2022;39(4):366-369
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of copy number variation sequencing (CNV-seq) and karyotyping in the prenatal diagnosis for carriers of balanced translocations.
METHODS:Clinical records of 135 amniocentesis samples of balanced translocation carriers undergoing simultaneous CNV-seq and karyotyping were analyzed. Chromosomal aberrations were defined as those can definitely lead to birth defects definitely, which included chromosomal numerical abnormality, large deletion/duplication and pathogenic copy number variations (pCNVs).
RESULTS:The detection rates for karyotyping and CNV-seq were 4.44% (6/135) and 5.93% (8/135) respectively, and the latter had a detection rate of 1.48(2/135) higher than the former. A total of 68 fetal chromosomal translocations were detected by karyotying analysis.
CONCLUSION:For couples carrying a balanced translocation, simultaneous CNV-seq and karyotyping is conducive to the detection of fetal chromosomal abnormalities and genetic counseling.
