Chromosomal microarray analysis of fetuses in advanced maternal age pregnancies with normal or abnormal ultrasound findings
LIU Li-na
WU He-ming
ZHENG Zhi-yuan
HUANG Shu-xian
CHEN Jia-xin
SHE Ling-na
Abstract：Objective To investigate the value of chromosomal microarray analysis(CMA)in detecting fetal chromosomal abnormalities in advanced maternal age(AMA)pregnancies with normal or abnormal ultrasound findings.Methods A total of 103 cases of single pregnancies with AMA(with or without ultrasound abnormalities,UA)who un-derwent prenatal CMA testing between September 2022 and April 2024 were included.The cases were divided into two groups:AMA without UA(no-UA group)and AMA with UA(UA group).Both CMA and karyotype analysis were per-formed for all participants.Results In the no-UA group(91 subjects),5 cases(5.5％)had clinically significant re-sults,including 3 cases of aneuploidy and 2 cases of pathogenic copy number variations(CNVs).In the UA group(12 subjects),3 cases(25％)had clinically significant results,including 2 cases of aneuploidy and 1 case of pathogenic CNV.The detection rate of clinically significant results in the UA group was significantly higher than that in the no-UA group(25％ vs.5.5％,P＜0.05).Conclusion All AMA pregnancies undergoing invasive prenatal testing,regardless of ultrasound findings,should undergo chromosomal microarray analysis.
Keywords：advanced maternal agechromosomal microarray analysiskaryotype analysisultrasound abnormalities
Publication Date：2025-04-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 538-541 )