唐氏综合征孕中期产前筛查和产前诊断结果分析

Analysis on the results of prenatal screening and prenatal diagnosis for Down’s syndrome during the second trimester of pregnancy

目的分析唐氏综合征孕中期产前筛查和产前诊断结果,为临床判断提供参考依据。方法选取2020年5月—2021年4月在长春市妇幼保健计划生育服务中心筛查的8204例孕妇为研究对象,所有孕妇均在孕中期行血清学指标(甲胎蛋白、游离β-人绒毛膜促性腺激素及游离雌三醇)检测,进行唐氏综合征产前筛查和产前诊断,分析其筛查结果,统计21-三体综合征、18-三体综合征及神经管缺陷的阳性检出率。根据筛查结果将研究对象分为低风险组和高风险组,对比两组孕妇不良妊娠结局发生情况(妊娠期糖尿病、妊娠期高血压疾病、早产及低出生体质量儿)。根据血清学指标检测结果将研究对象分为正常组和异常组,对比两组孕妇不良妊娠结局发生情况;对高风险组孕妇行羊水细胞染色体检查,分析其异常核型的检查结果。结果8204例孕妇中,21-三体综合征阳性717例(8.74%),18-三体综合征阳性253例(3.08%),神经管缺陷40例(0.49%),总阳性检出率为12.31%。8204例孕妇中,低风险组7194例(87.69%),高风险组1010例(12.31%),高风险组孕妇不良妊娠结局发生率(15.45%)高于低风险组(12.48%),差异有统计学意义(χ^(2)=5.187,P<0.05)。8204例孕妇中,正常组7023例(85.60%),异常组1181例(14.40%),异常组孕妇不良妊娠结局发生率(15.83%)高于正常组(12.35%),差异有统计学意义(χ^(2)=6.344,P<0.05)。高风险组孕妇中有721例进行羊水细胞异常核型检查,发现胎儿染色体异常20例,异常率为2.77%,其中高龄孕妇(年龄≥35岁)9例,占45.00%。结论唐氏综合征孕中期产前筛查能够及早发现21-三体综合征、18-三体综合征及神经管缺陷,有助于临床及时采取干预措施,减少先天缺陷儿出生,进而降低不良妊娠结局发生率,提高出生人口素质。

Objective To analyze the results of prenatal screening and prenatal diagnosis for Down’s syndrome during the second trimester of pregnancy,provide a reference basis for clinical judgment of Down’s syndrome.Methods From May 2020 to April 2021,a total of 8204 pregnant women receiving prenatal screening in Changchun Maternal and Child Health Care Family Planning Service Center were selected as research object,serological indicators were detected during the second trimester of pregnancy,including alpha fetal protein,freeβ-human chorionic gonadotrophin,and unconjugated estriol,prenatal screening and prenatal diagnosis for Down’s syndrome were conducted,the screening results were analyzed,the positive detection rates of trisomy 21 syndrome,trisomy 18 syndrome,and neural tube defects were calculated statistically.According to the screening results,the pregnant women were divided into low-risk group and high-risk group,the incidence rates of adverse pregnancy outcomes(gestational diabetes mellitus,hypertensive disorder complicating pregnancy,premature delivery,and low birth weight infants)in the two groups were compared.According to the results of serological indicators,the pregnant women were divided into normal group and abnormal group,the incidence rates of adverse pregnancy outcomes in the two groups were compared.Chromosomal examination of aminotic cells was conducted in high-risk group,the examination results of abnormal karyotypes were analyzed.Results Among 8204 pregnant women,717 pregnant women(8.74%)were diagnosed as trisomy 21 syndrome,253 pregnant women(3.08%)were diagnosed as trisomy 18 syndrome,40 pregnant women(0.49%)were diagnosed as neural tube defects,the total positive detection rate was 12.31%.Among 8204 pregnant women,7194 pregnant women(87.69%)in low-risk group and 1010 pregnant women(12.31%)in high-risk group were included,the incidence rate of adverse pregnancy outcomes in high-risk group was 15.45%,which was statistically significantly higher than that in low-risk group(12.48%)(χ^(2)=5.187,P<0.05).Among 8204 pregnant women,7023 pregnant women(85.60%)in normal group and 1181 pregnant women(14.40%)in abnormal group were included,the incidence rate of adverse pregnancy outcomes in abnormal group was 15.83%,which was statistically significantly higher than that in normal group(12.35%)(χ^(2)=6.344,P<0.05).In high-risk group,721 pregnant women underwent chromosomal examination of aminotic cells,20 cases were diagnosed as fetal chromosome abnormality,the incidence rate was 2.77%,the percentage of woman in advanced maternal age(≥35 years old)accounted for 45.00%(9 cases).Conclusion Prenatal screening for Down’s syndrome during the second trimester of pregnancy can timely detect trisomy 21 syndrome,trisomy 18 syndrome,and neural tube defects,which is conducive to taking interventional measures to reduce the birth of neonates with birth defects and incidence rate of adverse pregnancy outcomes,and improve the quality of birth population.