Significance of detecting free DNA from maternal plasma for the diagnosis of fetal chromosomal aneuploidies.
- Author:
Hong-yan LIU
1
;
Dong WU
;
Hui LI
;
She-ke GUO
;
Chao-yang ZHANG
;
Shi-xiu LIAO
;
Ying-tai WANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amniocentesis; methods; Aneuploidy; Chromosome Disorders; diagnosis; genetics; DNA; chemistry; genetics; Female; Fetus; Humans; Pregnancy; Prenatal Diagnosis; methods; Young Adult
- From: Chinese Journal of Medical Genetics 2012;29(4):435-438
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the feasibility and accuracy of detecting numerical chromosomal abnormalities by high-flux sequencing analysis of free fetal DNA from maternal plasma.
METHODSHigh-flux sequencing was applied to analyze fetal chromosome sequence copy numbers in 153 pregnant women. Fetal karyotyping was also carried out on amniocentesis samples.
RESULTSSix cases were detected with fetal chromosomal abnormalities by high-flux sequencing analysis, among which five were confirmed by karyotyping to be chromosomal aneuploidies (47,XYY; 45,X; 47,XY,+18; 47,XY,+21 and 47,XY,+13), 1 case was confirmed to be structural rearrangement, i.e., 46,XY,der(13;21)(q10;q10),+21. Furthermore, 3 chromosomal polymorphisms (one 46,XY,21p+ and two 46,XY,Yqh-) were identified. The two methods yielded similar results on fetal chromosome copy number detection.
CONCLUSIONHigh-flux sequencing analysis of free DNA derived from maternal plasma is efficient for detecting fetal chromosomal aneuploidies, and is non-invasive, highly sensitive and specific. It therefore has a broad application in antenatal diagnosis.
