CAJ | 학술논문

目的：了解二联法血清学产前筛查技术在中孕期妇女中筛查唐氏综合征（ DS）胎儿的应用情况及效果评估。方法采用时间分辨荧光免疫法对中孕期（妊娠15～20＋6周）妇女进行二联法血清学产前筛查，筛查为高风险（≥1：270）的孕妇，采用羊膜腔穿刺、羊水细胞培养和染色体核型分析进行产前诊断，并对分娩的新生儿进行网络随访，对可疑DS的新生儿行外周血染色体核型分析诊断。结果筛查出DS高风险1803例，筛查阳性率为4．05％，阳性者经羊水染色体检查，确诊9例胎儿；在随访的34715例筛查为低风险孕妇中确诊新生儿DS 6例。共确诊15例DS患儿，产前筛查检出率为60．00％（9/15），假阳性率为4．02％（1794/44551），假阴性检出率0．17‰（6/34715）。血清学筛查结果为高风险者，其检出DS儿的机率高于低风险者，两者差异有统计学意义（χ2＝102．908，P＜0．001）。结论中孕期妇女二联法血清学产前筛查技术是DS产前筛查异常胎儿的有效指标，但在随访过程中应注意筛查结果为假阴性或假阳性的解释工作。
목적：료해이련법혈청학산전사사기술재중잉기부녀중사사당씨종합정（ DS）태인적응용정황급효과평고。방법채용시간분변형광면역법대중잉기（임신15～20＋6주）부녀진행이련법혈청학산전사사，사사위고풍험（≥1：270）적잉부，채용양막강천자、양수세포배양화염색체핵형분석진행산전진단，병대분면적신생인진행망락수방，대가의DS적신생인행외주혈염색체핵형분석진단。결과사사출DS고풍험1803례，사사양성솔위4．05％，양성자경양수염색체검사，학진9례태인；재수방적34715례사사위저풍험잉부중학진신생인DS 6례。공학진15례DS환인，산전사사검출솔위60．00％（9/15），가양성솔위4．02％（1794/44551），가음성검출솔0．17‰（6/34715）。혈청학사사결과위고풍험자，기검출DS인적궤솔고우저풍험자，량자차이유통계학의의（χ2＝102．908，P＜0．001）。결론중잉기부녀이련법혈청학산전사사기술시DS산전사사이상태인적유효지표，단재수방과정중응주의사사결과위가음성혹가양성적해석공작。
Objective To study the application and evaluate the efficacy of combined measurement of alpha -fetoprotein ( AFP) and freeβ-human chorionic gonadotropin (β-hCG) for screening Down’s syndrome (DS) fetuses in mid-term pregnant women.Methods Combined measurement of serum AFP and free β-hCG was used to screen second trimester pregnant women ( at 15-20 +6 gestational weeks ) by the time resolved fluroimmunoassay (TRFIA).The high risk pregnant women (≥1:270) underwent prenatal diagnosis by amniocentesis , cell culture and chromosome analysis .The newborns of them were followed up by network , and suspected newborns underwent peripheral blood chromosome analysis .Results Totally 1 803 of 44 566 pregnant women were diagnosed as high-risk of DS by prenatal screening , with the positive rate of 4.05%, in which 9 cases were diagnosed as DS by amniotic fluid chromosome examination .Six cases of DS fetuses were diagnosed among 34 715 followed-up low-risk pregnant women .There were 15 cases of DS fetuses in total .The detection rate of prenatal screening was 60.00%(9/15), the false positive rate and false negative rate was 4.02% (1 794/44 551) and 0.17‰ (6/34 715) respectively.High-risk women screened by serologic examination had more possibilities receiving DS than the low-risk ones, and there was significant difference between them (χ2 =102.908,P<0.001).Conclusion Combined measurement of AFP and free β-hCG is an effective indicator for screening DS in second trimester pregnant women .However , the explanation must be carefully carried out on the results being false positive or false negative during follow-up.