Karyotype analysis combined with CMA in 1431 cases of fetal ultrasound abnormalities
Objective Explore the value of the combination of karyotype analysis and chromosome microarray analysis(CMA)by analyzing the results of 1431 cases fetal ultrasound abnormalities.Methods 1431 amniotic fluid samples of pregnant women with abnormal prenatal ultrasonography were collected from Urumqi Maternal and Child Healthcare Hospital from January 2021 to December 2023,and chromosome karyotype analysis and CM A detection were performed.Results The abnormal detection rate of chromosome karyotype analysis was 14.54％(208/1431),that of CMA was 15.51％(222/1431),and the abnormal detection rate of the two methods combined detection was 18.24％(261/1431),which had statistical significance compared with that of the single method(P＜0.05).The highest rates of chromosome abnormality and pathogenic copy number variation were found in NT/NF thickening and nasal bone abnormality.Conclusion Chromosomal karyotype analysis com-bined with CMA can effectively improve the detection rate of chromosomal abnormalities,and provide more effective results and genetic counseling for pregnant women with fetal ultrasound abnormalities.However,for copy number variation(VUS)of unknown clinical significance,further parental sample tracing examination is needed to help verify the interpretation of results and provide reliable fertility guidance for pregnant women.
chromosome microarray analysiscopy number variationkaryotype analysisprenatal diagnosisultra-sonic anomaly
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