Open AccessChromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age
Author(s) -
Wu Xiaoqing,
An Gang,
Xie Xiaorui,
Su Linjuan,
Cai Meiying,
Chen Xuemei,
Li Ying,
Lin Na,
He Deqin,
Wang Meiying,
Huang Hailong,
Xu Liangpu
Publication year - 2020
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23117
Subject(s) - medicine , ultrasound , group b , obstetrics , fetus , gynecology , prenatal diagnosis , microarray , snp array , pregnancy , single nucleotide polymorphism , biology , genetics , genotype , radiology , gene , gene expression
Background Chromosomal microarray analysis (CMA) has been suggested to be routinely conducted for fetuses with ultrasound abnormalities (UA), especially with ultrasound structural anomalies (USA). Whether to routinely offer CMA to women of advanced maternal age (AMA) without UA when undergoing invasive prenatal testing is inconclusive. Objective This study aimed to evaluate the efficiency of CMA in detecting clinically significant chromosomal abnormalities in fetuses, with or without UA, of women with AMA. Methods Data from singleton pregnancies referred for prenatal CMA due to AMA, with or without UA were obtained. The enrolled cases were divided into AMA group (group A) and AMA accompanied by UA group (group B). Single nucleotide polymorphism (SNP) array technology and conventional karyotyping were performed simultaneously. Results A total of 703 cases were enrolled and divided into group A (N = 437) and group B (N = 266). Clinically significant abnormalities were detected by CMA in 52 cases (7.4%, 52/703; the value in group A was significantly lower than that in group B (3.9% vs 13.2%, P < .05); no statistic difference was observed with respect to submicroscopic variants of clinical significance between the two groups (0.9% vs 2.6%, P > .05). Conclusions Chromosomal microarray analysis should be available to all women with AMA undergoing invasive prenatal testing, regardless of ultrasound findings.