Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses

The purpose of this study was to assess the application value of chromosome microarray analysis (CMA) for prenatal diagnosis of fetuses with ultrasonic abnormalities. A retrospective study was conducted on 315 fetuses with ultrasonic abnormalities without aneuploidies who received prenatal diagnosis at Meizhou People's Hospital, from October 2022 to December 2023. Fetal specimens obtained by ultrasound guided puncture were detected by CMA analysis with Affymetrix CytoScan 750K array. The detection rate of chromosomal abnormalities in different ultrasonic abnormalities was analyzed. Among the 315 fetuses, 16 (5.08%) were detected with pathogenic/likely pathogenic copy number variants (P/LP CNVs). Three (5.88%) among 51 cases with ultrasound structural abnormalities in multiple organ systems were detected with P/LP CNVs, 5 (6.02%) among 83 cases with a single structural anomaly were detected with P/LP CNVs, and 8 (4.42%) among 181 cases with ultrasonographic soft markers were detected with P/LP CNVs. Compared with conventional karyotyping analysis, CMA can improve the detection of fetal chromosomal abnormalities and provide an effective diagnostic tool for prenatal diagnosis. Chromosomal microarray analysis; Ultrasonic abnormality; Karyotype; Prenatal diagnosis.