1188例早中孕整合产前筛查结果分析及临床意义

目的研究孕早期二联血清学指标结合颈部透明层（NT）超声软指标检查联合孕中期三联血清学指标产前筛查胎儿染色体异常及神经管缺陷的敏感性。方法收集2012年4月—2012年12月于余姚市进行早中孕整合产前筛查的1188例孕产妇资料，对其产前筛查、产前诊断及妊娠结局进行分析研究，并与同期进行中孕期产前筛查的4963例孕产妇及预产期年龄I〉35周岁的高龄孕产妇483例相比较。结果早中孕整合产前筛查组胎儿染色体异常和神经管缺陷检出率100．00％（1／1），假阳性率1．01％（12／1187），阳性预测值7．69％（1／13）；中孕产前筛查组胎儿染色体异常和神经管缺陷检出率75．00％（3／4），假阳性率4．74％（235／4960），阳性预测值1．26％（3／238）；预产期年龄／〉35周岁的高龄孕产妇与低龄组唐氏综合征发生差异有统计学意义，胎儿其他异常的发生率差异有统计学意义，P均〈0．05。结论孕早期二联法结合NT联合孕中期三联法产前筛查胎儿染色体异常及神经管缺陷是减少患儿出生的有效方法，整合筛查能降低假阳性率，提高阳性预测值，高龄孕妇的产前筛查模式值得进一步探究。

Results analysis and clinical significance on prenatal screening of 1188 cases of early and mid pregnancy integra- tion

Objective To study the early bigeminal pregnancy serological indexes combined NT ultrasound soft data check joint mid pregnancy sanlian serological indexes of prenatal screening for fetal chromosomal abnormalities and neural tube defects sensitivity. Methods Collected in April 2012 to December 2012 in this city in early pregnancy to integrate the data of 1188 cases of maternal prenatal screening in the prenatal screening, prenatal diagnosis and pregnancy outcomes were analyzed, and compared with in the same period in 4963 cases of pregnancy, prenatal screening maternal age 35 years old or older maternal and due date of 483 cases. Results Early in pregnancy group integration of prenatal screening fetal chromosomal abnormalities and neural tube defect detection rate was 100% （1/1）, false positive rate was 1.01% （12/ 1187 ） , positive predictive value of 7.69% （1/13）, group of prenatal screening fetal chromosomal abnormalities and neu- ral tube defect detection rate 75% （ 3/4 ）, false positive rate 4.74% （ 235/4960 ）, positive predictive value 1.26% （ 3/ 238）, due date of 35 years old or older maternal age has significant difference with the young group of down＇ s syndrome, the occurrence of abnormal fetal other significant differences, P 〈 0.05. Conclusion Early pregnancy duplex method combined with NT joint mid pregnancy sanlian method of prenatal screening for fetal chromosomal abnormalities and neu- ral tube defect was an effective way to reduce child was born, integration of screening can reduce false positive rate, im- prove the positive predictive value, older pregnant women＇ s prenatal screening model deserved further exploration.