Association of fetal cardiac structural abnormalities and chromosomal aneuploidies and copy number variations / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To investigate the association of fetal cardiac structural abnormalities with chromosomal aneuploidies and copy number variations (CNVs) in amniocytes.@*METHODS@#328 pregnant women were subjected to fetal ultrasonography and chromosomal microarray analysis (CMA). Based on the fetal heart structure, the subjects were divided into normal (n=273) and abnormal groups (n=55). The detection rates of chromosomal aneuploidies and CNVs were compared between the two groups. Spearman method was used to assess the association between the results and fetal cardiac structural abnormalities.@*RESULTS@#The detection rates for chromosomal aneuploidies and CNVs in the abnormal group were significantly higher than that in the normal group (P< 0.05), and the incidence of fetal cardiac structural abnormalities was strongly associated with chromosomal aneuploidies and CNVs (P< 0.05).@*CONCLUSION@#Fetal chromosomal aneuploidies and CNVs are strongly associated with cardiac structural abnormalities.