Objective To evaluate the effects combining in situ amniotic fluid culture with chromosomal microarray analysis(CMA)in prenatal diagnosis of fetal chromosomal abnormalities.Methods A retrospective analysis was conducted on 3 133 pregnant women who underwent amniocentesis at Huaihua Maternal and Child Health Hospital from October 2018 to February 2023 due to different indica-tions for prenatal diagnosis.The detection rates and differences of in situ amniotic fluid culture and CMA in detecting fetal chromosomal abnormalities were compared.Results Among the 3 133 samples,the detection rates increased by 0.95％(in situ culture)and 2.36％(CMA)in the double-indication group compared with the single-indication group.The combined testing detected 796 abnormal cases(25.41％),including 300 cases(9.58％)by in situ culture and 706 cases(22.53％)by CMA.Both techniques detected 145 aneu-ploidies and 31 large segmental structural abnormalities,while CMA additionally detected 169 copy number variants(CNV),loss of heterozygosity(LOH),absence of heterozygosity(AOH)/region of homozygosity(ROH)and uniparental disomy(UPD),and in si-tu culture additionally detected 11 balanced rearrangements.They jointly detected 23 cases of mosaicism(0.73％).Conclusion In si-tu amniotic fluid culture and CMA complement each other.Their combined application can significantly improve the detection rate of fe-tal chromosomal abnormalities and provide more detailed and accurate information for prenatal genetic counseling,thus facilitating preg-nant women to decide continuing or terminating the pregnancy.
维普
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