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MicroRNAs (miRNAs) have been used as molecular markers for various diseases. This study aimed to evaluate the predicted performance of miRNAs in fetal umbilical cord blood for detecting congenital heart disease (CHD).In this retrospective cohort study, a total of 60 pregnant women (involving 30 fetuses with CHD and 30 normal fetuses requiring induction of labor) were included. Umbilical cord blood was collected for miRNA measurement. Expression levels of the miRNAs were detected by qRT-PCR. The predictive accuracy of miRNA was assessed by constructing a receiver operating characteristic (ROC) curve and evaluated by calculating the area under the curve (AUC). The point biserial correlation coefficient (PBCC) was analyzed to evaluate the correlation of miRNA with CHD.The CHD group and control group were well-balanced in age, gravidity, and parity. miRNA-133 was not detected in all subjects. Subjects with CHD fetuses had significantly lower levels of miRNA-1, miRNA-208, and miRNA-499. Different types of CHD showed different variation trends of miRNA expression. Correlation analysis showed that expression levels of miRNA-1, miRNA-208, and miRNA-499 were negatively correlated with the occurrence of CHD, with a PBCC of -0.65, -0.47, and -0.60, respectively. miRNA-1, miRNA-208, and miRNA-499 displayed an AUC of 0.86 (95% CI, 0.76-0.96;The expression levels of miRNA-1, miRNA-208, and miRNA-499 in umbilical cord blood may be useful for predicting fetal CHD. The findings indicated that miRNAs have the potential to be a prenatal screening tool in the early diagnosis of CHD.

To compare villus cell culture and karyotype analysis with single nucleotide polymorphism (SNP) microarray technology for the detection of chorionic villus chromosome in patients with retention of abortion.Forty cases were analyzed with the two methods.Chorionic villus culturing was successful in 29 cases, among which 10 were found to have an abnormal karyotypes. For the SNP microarray analysis, all 40 cases were successful, among which 16 were shown to have an abnormal molecular karyotype.SNP microarray technology is highly accurate and specific, which is particularly suitable for the detection of chromosomal deletions or duplications, uniparental disomy, low-percentage mosaicism and other chromosomal abnormalities. It has provided an effective supplement to the conventional chorionic villus culture and karyotype analysis.