产前筛查结果与不良妊娠结局关系分析

目的:探讨血清学唐氏筛查和孕妇外周血胎儿游离DNA产前筛查(NIPT)结果与不良妊娠结局的关系.方法:选取2017年2月1日至2019年6月1日在上海市第一人民医院产前诊断中心接受中孕期血清学唐氏筛查(2483例)和NIPT(2312例)的孕妇,随访妊娠结局.比较血清学唐氏筛查高风险、中风险、低风险孕妇发生不良妊娠结局...

Association between adverse pregnancy outcomes and prenatal screenings

Objective:To assess the association between the result of serologic Downsyndrome(DS)screening and non-invasive prenatal testing(NIPT)and adverse pregnancy outcomes.Methods:From February 1st,2017 to June 1st,2019,a total of 2483 and 2312 pregnant women who received serologic DS screening and NIPT in the Prenatal Diagnosis Center of Shanghai General Hospital were included in this study.The pregnacy outcomes were followed up.The incidence of adverse pregnacy outcomes in women with high-risk,medium-risk and low-risk in DS screening were compared.The women with NIPT negative result were divided into 3 groups by fetal fraction of cell-free DNA(cffDNA%):low、moderate and high cffDNA%group.The incidence of adverse pregnacy outcomes were compared among women with positive result and the 3 groups above.Results:(1)Serologic DS Screening:there were respectively 181、16 and 19 cases with high risk of DS、T18 and NTD group.The medium-risk group of DS and T18 included 320 and 17 cases.The low-risk group included 1930 cases.There was no significant difference between the incidence of adverse pregnancy outcomes in DS、T18 medium-risk group with low-risk groups.There were significantly higher rates of gestational diabetes(GDM)(14.92%vs 9.95%,P=0.032),placenta placement(2.76%vs 0.66%,P=0.012)in DS high-risk group compared with the low-risk group.The incidence of fetal chromosome disease in T18 high-risk group was higher than that in low risk group(6.25%vs 0.15%,P=0.024).The rates of preterm birth(21.05%vs 4.67%,P=0.010)、spontaneous abortion(10.53%vs 1.1%,P=0.015)、and stillbirth/neonatal death(10.53%vs 0.3%,P=0.001)in NTD high-risk group were all much higher than that in the low risk group.(2)NIPT:There were 88 cases of NIPT positive result and 2234 cases of negative result,of which 106 cases in low cffDNA%group,2019 cases in moderate cffDNA%group and 109 cases in high cffDNA%group.The rate of hypertensive disorder of pregnancy was higher in NIPT positive result group and low cffDNA%group than in moderate cffDNA%group and high cffDNA%group(9.09%and 8.49%vs 2.63%and 0%,P<0.01).Similarly,the rate of GDM in both groups was significantly higher than that in the other two groups(12.5%and 16.98%vs 8.62%and 7.34%,P=0.017).Abortion rate in low cffDNA%group was 8.49%,significantly higher than the other three groups(P<0.01).Only 51.14%of patients in the NIPT positive result group did not appear any fetal/neonatal complications,much lower than the other three groups(P<0.01).The rates of chromosomal abnormalities、fetal malformations and neonatal diseases in this group were 40.91%、9.09%and 13.64%respectively,which were significantly higher than the other three groups(P all<0.01).Conclusions:Women who obtain positive result of serological DS screening and NIPT,and who have low cffDNA fraction with NIPT negative result are at increased risk of adverse pregnancy outcomes.