Correlation between fetal cardiovascular malformations and chromosome abnormalities

Abstract

Objective To explore the correlation between fetal cardiovascular malformations and chromosome abnormalities. Methods Retrospective analysis was conducted for clinical data of 72 pregnant women with fetal cardiovascular system dysplasia from January 2013 to August 2018. And all 72 fetuses with abnormal cardiovascular system dysplasia were singletons with termination of pregnancy (n=45), loss of follow-up (n=6) and normal pregnancy (n=21). Results Twenty-two cases of abnormal karyotypes were detected in 72 patient samples with an abnormal rate of 30.6%(22/72), including 18-trisomy (n=10), 13-trisomy (n=3), 21-trisomy (n=2), sex chromosome mosaicism (n=1) and chromosomal structure abnormalities (n=6). As for fetal chromosome aneuploidy, the number of 18-trisomy accounted for 66.7%(10/15). There were single cardiovascular malformations (n=29), abnormal karyotypes (n=3), cardiovascular with other system malformations (n=43) and abnormal karyotypes (n=19). The abnormal karyotypic rate of cardiovascular malformations with other systems was higher than that of single cardiovascular malformations (44.2% vs. 10.3%, P=0.0035). As for fetal single cardiovascular system malformations, the distributions of gestational weeks were as follows: 28 weeks (n=4) & abnormal karyotype (n=1). As for fetal cardiovascular with other systemic malformations, the gestational weeks were 28 weeks (n=3) & abnormal karyotype (n=1). The abnormal karyotypic detection rates of cardiovascular malformation associated with urogenital, craniocerebral, facial neck, skeletal & extremity abnormalities were 100%(3/3), 71.4%(10/14), 58.8%(10/17) and 52.9%(9/17) respectively. However, no abnormal karyotype was detected in 8 cardiovascular cases with concurrent gastrointestinal malformations. Conclusions The number of chromosomes or structural changes is closely correlated with the abnormal development of fetal cardiovascular system. Key words: Fetus; Cardiovascular abnormalities; Chromosomes; Karyotyping