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One-stop clinic for assessment of risk of chromosomal defects at 12 weeks of gestation.

机译:评估妊娠12周时染色体缺陷风险的一站式诊所。

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摘要

Prenatal diagnosis of trisomy 21 requires an invasive test in women considered to be at high risk after screening. At present, there are four screening tests. For a 5% false-positive rate, the sensitivities are approximately 30% for maternal age alone, 60-70% for maternal age and second-trimester maternal serum biochemical testing, 75% for maternal age and first-trimester fetal nuchal translucency (NT) scanning, and 90% for maternal age with fetal NT and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks. This article examines the methodology of first-trimester screening and summarizes the results from all studies reporting on the implementation of this method.
机译:筛查后认为处于高风险的女性,需要对21三体症进行产前诊断。目前,有四项筛选测试。对于5%的假阳性率,仅母体年龄的敏感性约为30%,母体年龄和孕中期的血清生化检测为60-70%,母体年龄和孕中期的胎儿颈部半透明性(NT )扫描,并在11-14周时将90%的孕妇年龄与胎儿NT和母体无血清β-人绒毛膜促性腺激素(β-hCG)和妊娠相关的血浆蛋白A(PAPP-A)结合使用。本文研究了孕早期筛查的方法,并总结了所有报告该方法实施情况的研究结果。

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