The Application of Chromosomal Microarray Analysis in the Prenatal Diagnosis of 580 Fetal Ultrasound Abnormalities
Objective It is to evaluate the clinical application value of chromosome microarray analysis(CMA)in the prenatal diagnosis of fetuses with various types of ultrasound abnormalities.Methods The G-banded karyotyping and CMA results of 580 amniotic fluid samples from pregnant women with fetal ultrasound abnormalities from January 2020 to December 2023 were retrospectively analyzed and the pregnancy outcomes of CMA-positive cases were followed up.Results Of the 580 cases,90 amniotic fluid samples were positive for CMA testing,a positive rate of 15.5％,which was 9.6％higher than the positive rate of chromosomal karyotyping(34 cases,5.9％)(x2=28.3,P＜0.001).In the 167 ultra-sound structural abnormalities,25 cases were positive for CMA testing(a positive rate of 15.0％),and the positive rates for abdominal,respiratory,skeletal,neurological,and cardiovascular abnormalities were 33.3％,29.4％,16.7％,16.7％and 14.3％,respectively;in the 413 ultrasound structural abnormali-ties,65 cases were positive for CMA testing(a positive rate 15.7％),multiple ultrasound soft markers abnormalities,choroid plexus cysts and nuchal translucency(NT)thickening of isolated ultrasound soft marker abnormalities were at 23.9％,20.0％and 18.6％,respectively.The pregnancy outcomes of 90 CMA-positive cases were followed up,including 42 normal births,36 induced deliveries,2 fetal arrests,5 postnatal abnormalities and 5 unborn cases.Conclusions In the prenatal diagnosis of fetuses with ul-trasound abnormalities,CMA can compensate for the limitations of chromosome karyotype analysis;CMA testing is recommended when ultrasound examination reveals isolated/multiple structural abnormalities or soft ultrasound markers in the fetus,;copy number variants of uncertain significance(VOUS)require genetic counseling in conjunction with local follow-up outcome data and literature review.
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