Prenatal screening and diagnosis in the era of cytomolecular genetics
10.3760/cma.j.issn.1009-9158.2014.04.002
- VernacularTitle:分子细胞遗传学时代的产前筛查与产前诊断
- Author:
Xuming BIAN
;
Xiya ZHOU
- Publication Type:Journal Article
- Keywords:
Prenatal diagnosis;
Molecular diagnostic techniques;
Genetic screening
- From:
Chinese Journal of Laboratory Medicine
2014;37(4):245-247
- CountryChina
- Language:Chinese
-
Abstract:
Great efforts have been made in the prenatal screening and prenatal diagnosis of aneuploidy in China.Nevertheless,the coverage percentage of screening is still low,and the capability of diagnosis is far from enough.To elevate the efficacy of prenatal screening,developing fast aneuploidy diagnositic techniques is quite important.Cell-free DNA testing is believed to be a confirmatory screening test of aneuploidy.Fluorescence in situ hybridization,fluorescence quantitative PCR might be used in the prenatal diagnosis in high risk women.Chromosomal microarray analysis has high sensitivity in the diagnosis of microdeletion and microduplication.The era of cytomolecular diagnosis is coming.
