• Yan Lu, Caihong Liu, and Yan Ji.
• Department of Prenatal Diagnostic Centre, Huizhou Central People's Hospital, Huizhou, Guangdong, China.
• J Coll Physicians Surg Pak. 2023 Mar 1; 33 (3): 270274270-274.

ObjectiveTo analyse the effect of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with abnormal ultrasonographic soft markers.Study DesignDescriptive study. Place and Duration of the Study: Prenatal Diagnostic Centre, Huizhou Central People's Hospital, from January 2020 to January 2022.MethodologyA total of 160 pregnant women with abnormal soft markers in the fetuses on prenatal ultrasonography were selected. Amniotic fluid in the second trimester of pregnancy was extracted for CMA. In addition, karyotype analysis of chromosomal G-banding was carried out to analyse the effect of CMA in prenatal diagnosis.ResultsThe detection rate of copy number variants (CNVs) by CMA was higher than that by karyotype analysis, which was not statistically significant (p=0.059). Compared with karyotype detection, CMA detected five additional cases of pathogenic CNVs, all of which were cases of microdeletion and microduplication. VOUS cases detected by CMA were mostly concentrated in NT thickening, among which cases of uncertain significance were the most.ConclusionThe application of CMA in the prenatal diagnosis of fetuses with abnormal ultrasonographic soft markers can improve the detection rate of pathogenicity. As a prenatal diagnostic method, CMA has high application value and is worthy of clinical promotion.Key WordsChromosomal microarray analysis, Abnormal ultrasonographic soft markers, Prenatal diagnosis, Diagnostic efficiency.

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