Application of chromosomal microarray analysis in prenatal diagnosis for fetal abnormalities detected by ultrasonography.
- Author:
Ting HU
1
;
Jiamin WANG
;
Zhu ZHANG
;
Hongmei ZHU
;
Hongqian LIU
;
Xuemei ZHANG
;
Haixia ZHANG
;
Ze DU
;
Lingping LI
;
He WANG
;
Shanling LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Chromosome Aberrations; Chromosome Disorders; diagnosis; embryology; genetics; DNA Copy Number Variations; Female; Fetal Diseases; diagnosis; diagnostic imaging; genetics; Fetus; diagnostic imaging; Humans; Karyotyping; Male; Microarray Analysis; methods; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal; methods; Young Adult
- From: Chinese Journal of Medical Genetics 2017;34(3):317-320
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography.
METHODSAmniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software.
RESULTSAmong the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA. Six (9.68%) among 62 cases with structural fetal abnormalities in multiple organ systems were detected with pCNVs, 11 (7.48%) among 147 cases with a single structural anomaly were detected with pCNVs, and 7 (2.61%) among 268 cases with a soft marker were detected with pCNVs.
CONCLUSIONCMA has offered a clear advantage over conventional karyotyping for the detection of fetal chromosomal abnormalities, and can provide an effective diagnostic tool for those with one or more structural abnormalities detected by ultrasound.
