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目的探讨胎儿18-三体的产前筛查诊断策略。方法采用血清学三联法[人甲胎蛋白(hAFP)+游离-β-人绒毛膜促性腺激素(Freeβ-HCG)+游离雌三醇(uE3)]对北京市海淀区妇幼保健院产前筛查中心2009年5月1日至2012年3月31日中孕期妇女52 539例行18-三体筛查,筛查出低风险孕妇52 476例,高风险孕妇63例,统计和分析血清学筛查结合B超筛查前后18-三体的假阳性率。结果 1.筛查妊娠总人数52 539例。高风险孕妇63例中有5例产前诊断18-三体胎儿。2.高风险孕妇63例,经产前咨询45例同意行产前诊断(71.43%),未做产前诊断的18例胎儿分娩后留脐血染色体核型未见异常。3.63例高风险超声筛查胎儿异常9例。5例18-三体胎儿超声表现为多发畸形,发生频率依次为心脏畸形,神经系统畸形,肢体异常、脐血管异常。4.血清学筛查18-三体的假阳性率为0.11%(58/52533),血清学筛查高风险结合B超筛查异常后假阳性率为0.01%(4/52533),差异有统计学意义(χ2=40.528,P=0.00)。结论中孕期血清学筛查与B超筛查结合,能够显著降低18-三体的假阳性率,减小侵入性产前诊断的压力。
Objective To explore prenatal screening diagnostic method of fetus 18-trisomy. Methods The serological triple therapy (human α-fetoprotein (hAFP) + free β-HCG + uE3) Census Center From May 1, 2009 to March 31, 2012, 52 539 routine pregnancies of women were screened for 18-trisomy. 52 476 pregnant women at low risk and 63 pregnant women at high risk were screened. Statistics and analysis of serological Screening combined with B-screening before and after 18-trisomy false positive rate. Results 1. The total number of pregnant women screened 52 539 cases. Five of the 63 high-risk pregnant women prenatally diagnosed 18-trisomy. There were 63 cases of high-risk pregnant women, prenatal counseling 45 cases agreed to prenatal diagnosis (71.43%), 18 cases of prenatal diagnosis of fetal umbilical cord blood chromosome karyotype showed no abnormalities. 3.63 cases of high-risk ultrasound screening for fetal abnormalities in 9 cases. Five cases of 18-trisomy fetal ultrasound showed multiple deformities, the frequency of occurrence of heart malformations, nervous system abnormalities, limb abnormalities, umbilical vascular abnormalities. 4. The false-positive rate of 18-trisomy in serological screening was 0.11% (58/52533), the false-positive rate was 0.01% (4/52533) after high-risk serological screening combined with B-screening, the difference was Statistical significance (χ2 = 40.528, P = 0.00). Conclusion Serum screening in the second trimester combined with B-screening can significantly reduce the false positive rate of 18-trisomy and reduce the pressure of invasive prenatal diagnosis.