Executive summary

作者：Nicholas Wald, Charles H. Rodeck, Allan K. Hackshaw, Jocelyn C. Walters, Lyn S. Chitty, A‐M. Mackinson · 发表于：Journal of Medical Screening · 年份：2003 · DOI：10.1258/096914103321824133 · 被引用次数：332 · 研究领域：Prenatal Screening and Diagnostics、Parvovirus B19 Infection Studies、Pregnancy and preeclampsia studies

Objectives To identify the most effective, safe and cost-effective method of antenatal screening for Down's syndrome using nuchal translucency (NT), maternal serum and urine markers in the first and second trimesters of pregnancy, and maternal age in various combinations.Design A prospective study of women who booked for their antenatal care at about 8-14 weeks of gestation, with follow-up to identify pregnancies with Down's syndrome ascertained through second trimester screening or at birth.Setting Twenty-five maternity units (24 in the UK and one in Austria) offering second trimester Down's syndrome serum screening that agreed to collect observational data in the first trimester.Participants The results were based on 47,053 singleton pregnancies, including 101 pregnancies with Down's syndrome.Measurements and tests NT measurements were included if obtained between 9 and 13 weeks of pregnancy; serum and urine samples were also taken and stored. Another pair of serum and urine samples was collected in the second trimester and included if obtained between 14 and 20 weeks. Urine and serum samples from each affected pregnancy and five matched controls were tested for:Serum:alphafetoprotein (AFP)total human chorionic gonadotrophin (hCG)unconjugated oestriol (uE(3))pregnancy associated plasma protein A (PAPP-A)free beta-hCG.dimeric inhibin-A.Urine:invasive trophoblast antigen (ITA)beta-core fragmenttotal hCGfree beta-hCG.The matching criteria were gestation (using an ultrasound cr...