Application of BACs-on-Beads and karyotyping for the prenatal diagnosis of 1371 pregnant women with a high risk.
- Author:
Penglong CHEN
1
;
Chunlei JIN
;
Qunda SHAN
;
Bixia QIAN
;
Xiaohong ZHENG
;
Xiaohong WANG
;
Yi WANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosome Aberrations; Chromosome Disorders; genetics; Female; Humans; Karyotyping; Middle Aged; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2017;34(4):542-545
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of combined BACs-on-Beads(BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy.
METHODSFor 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples.
RESULTSIn total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping. Karyotyping analysis has identified an extra yield of 19 chromosomal abnormalities and 34 chromosomal polymorphisms.
CONCLUSIONCombined use of BoBs and chromosomal karyotyping can improve the detection rate of fetal chromosomal abnormalities including microdeletions/microduplications, which should find a wider use in the clinics.
