Application value of chromosome microarray technology in prenatal diagnosis of fetal ultrasound abnormalities
LI Luo-bing1 TAN Man-sheng2 LIANG Xi-lan1 PAN Jin-mei1 CHEN Xiao-le1
1. Prenatal Diagnosis Center，Maoming Maternal and Child Health Hospital，Guangdong Province，Maoming 525000，China；
2. Genetic Eugenics and Childcare Center，Maoming Maternal and Child Health Hospital，Guangdong Province，Maoming 525000，China
Abstract：Objective To explore the application value of chromosomal microarray technology (CMA) in prenatal diagnosis of fetal ultrasound abnormalities. Methods From January 2017 to October 2019，146 pregnant women diagnosed with ultrasound abnormalities at the prenatal diagnosis center of Maoming Maternal and Child Health Hospital were selected as the research subjects，and the CMA examination and karyotype test were performed. Results The karyotype analysis and CMA of 146 fetuses were successfully detected. 22 cases of chromosome karyotype analysis showed abnormal results. The detection rate of chromosome abnormalities was 15.07% (22/146)，24 cases of pathogenic copy number variation (CNVs)，4 cases of clinically unclear copy number variation (VOUS) were detected by CMA. Multiple deformities (6/24)，cardiovascular system (6/24)，central nervous system (4/24)，and fetal neck clear layer (NT) thickening (7/24) were the most relevant to pathogenic CNVs. The detection rate of CMA chromosome abnormalities was 19.18% (28/146). 1 case of chromosome inversion，1 case of chromosome chimera，and 20 cases of same chromosome karyotype were detected by CMA. For chromosomal imbalance mutations，abnormalities could be detected by traditional karyotype analysis techniques，and CMA technology can show more accurate abnormality sites. 8 cases with normal karyotype and abnormal CMA results were microdeletions and microduplications. The CMA positive detection rate increased by 4.11%. Conclusion Compared with traditional karyotype analysis，CMA improves the positive detection rate of chromosome karyotype in fetal ultrasound abnormal cases，and can better avoid birth defects.
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