Application of combined chromosomal karyotyping and BACs-on-Beads assay for the prenatal diagnosis of high-risk gravida from Ningbo.
- VernacularTitle:BoBs技术联合核型分析在宁波地区高危孕妇产前诊断中的应用
- Author:
Danhua SHI
1
;
Lichao ZHANG
;
Qianqian MAO
;
Ying ZHOU
;
Lingling XU
;
Liping LU
;
Wenbo LU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosome Aberrations; Chromosome Deletion; Chromosomes, Artificial, Bacterial; genetics; Female; Humans; Karyotyping; methods; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2018;35(2):236-239
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of combined chromosomal karyotyping and BACs-on-Beads(BoBs) assay for the prenatal diagnosis of high risk gravida from Ningbo.
METHODSFor 2779 women, results of conventional karyotyping analysis and BoBs assay were compared.
RESULTSFor common aneuploidies involving chromosomes 13, 18, 21, X and Y, the two methods have yielded a concordance rate of 98.78%. Eight cases detected with microduplication by BoBs were missed by karyotyping analysis. On the other hand, 17 structural chromosomal abnormalities, 10 chimeras and 1 triploidy detected by karyotyping analysis were missed by BoBs.
CONCLUSIONThe BoBs technology has featured high throughput and rapidity, and can detect 9 microdeletion syndromes, which can improve the quality of prenatal diagnosis and provide an ideal complementary for conventional chromosomal karyotyping.
