Abstract: Objective To explore the clinical application values of chromosomal microarray analysis (CMA) technology in detecting amniotic fluid in pregnant women. Methods The study selected 180 pregnant women who underwent amniocentesis at the Maternal and Child Health Hospital of Ili Kazakh Autonomous Prefecture from January 2023 to September 2023 as the research subjects. The amniotic fluid of all pregnant women were extracted for karyotype analysis and chromosomal microarray analysis, and the test results and follow-up pregnancy outcomes were recorded. Results There were 13 cases (7.22%) were diagnosed as chromosomal abnormalities through karyotype analysis in the 180 cases; Chromosome microarray analysis identified 25 cases of chromosomal abnormalities, accounted for 13.89%. The detection rate of chromosomal abnormalities in chromosome microarray analysis were significantly higher than that in karyotype analysis (P<0.05). Among 180 pregnant women, chromosome microarray analysis detected copy number variations in 21 cases, accounting for 11.67%. Among them, there were 13 cases of pathogenic CNV, 7 cases of clinically unclear CNV, and 1 case of potentially pathogenic CNV. There were 45 cases of normal live births and 135 cases of abnormal outcomes (31 cases of induced abortions, 9 cases of intrauterine fetal deaths, and 95 cases of premature births). Chromosome microarray analysis showed that the rates of chromosomal abnormalities and copy number abnormalities in normal live births were 4.44% and 2.22%, respectively, which were significantly lower than 17.04% and 14.81% of abnormal outcomes (P<0.05). Conclusion The clinical application of chromosome microarray analysis technology in amniotic fluid detection of pregnant women can improve the detection rate of chromosomal abnormalities, detect copy number variations, and guide the analysis of pregnancy outcomes.

Key words: chromosome microarray analysis technology, pregnant women, amniotic fluid, chromosome abnormalities, copy number variation, pregnancy outcome