The analysis of prenatal diagnosis results and pregnancy outcome in fetal cystic hygroma

Abstract

Objective To explore the relationship between fetal cystic hygroma and chromosomal abnormalities and its pregnancy outcome. Methods A retrospective analysis of pregnant women with fetal cystic hygroma from January 2009 to August 2018 in our hospital. Results 14 cases of abnormal karyotypes were detected in the 30 patient samples, and the abnormal rate was 46.67%(14/30), including 6 cases of 45, X, 4 cases of trisomy 18, 2 cases of trisomy 21 and 2 cases of chromosomal structural abnormalities. There were 13 cases of single cystic hygroma, 3 cases of abnormal karyotypes; 17 cases of cystic hygroma with other system malformations and 11 cases of abnormal karyotypes; the abnormal karyotype rate of cystic hygroma with other malformations was higher than that of single cystic hygroma malformation (64.71% vs 23.08%, P=0.0329). 6 out of 30 cases were lost to follow-up, the rate was 20.00% (6/30); 13 cases of abnormal karyotypes were all terminated, and only 1 case of 11 normal karyotype fetuses was born, the termination rate was 90.91% (10/11). The coincidence rates of 45, X, 18-trisomy, 21-trisomy, chromosomal structural abnormalities and normal karyotype fetuses after birth with prenatal phenotypes were 40.00% (2/5), 100.00% (2/2), 50.00% (1/2), 100.00% (2/2) and 75.00% (6/8), respectively. Conclusion The chromosome abnormalities were closely related to fetal cystic hygroma. When genetic consulting this kind of fetus, we should make a comprehensive evaluation and carefully decide whether the fetus to leave or not. Key words: Fetal cystic hygroma; Chromosome karyotype; Trisomy 18; Pregnancy outcome