Three-stage contingent screening for Down syndrome

Prenatal Diagnosis
Dave WrightPeter A Benn

Abstract

To demonstrate the potential value of three-stage sequential screening for Down syndrome. Protocols were considered in which maternal serum pregnancy associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (hCG) measurements were taken on all women in the first trimester. Those women with very low Down syndrome risks were screened negative at that stage and nuchal translucency (NT) was measured on the remainder and the risk reassessed. Those with very low risk were then screened negative and those with very high risk were offered early diagnostic testing. Those with intermediate risks received second-trimester maternal serum alpha-fetoprotein, free beta-hCG, unconjugated estriol and inhibin-A. Risk was then reassessed and those with high risk were offered diagnosis. Detection rates and false-positive rates were estimated by multivariate Gaussian modelling using Monte-Carlo simulation. The modelling suggests that, with full adherence to a three-stage policy, overall detection rates of nearly 90% and false-positive rates below 2.0% can be achieved. Approximately two-thirds of pregnancies are screened on the basis of first-trimester biochemistry alone, five out of six women complete their screening in the f...Continue Reading

References

Feb 20, 2004·Prenatal Diagnosis·Nicholas WaldAllan Hackshaw
Jun 21, 2005·Prenatal Diagnosis·Dave WrightKaren Ritchie
Jul 29, 2005·Prenatal Diagnosis·Peter BennHoward Cuckle
Dec 1, 2005·Prenatal Diagnosis·Severin Olesen LarsenBent Norgaard-Pedersen

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Citations

Sep 1, 2010·Journal of Community Genetics·Kai MuruTiia Reimand
Nov 27, 2008·The Australian & New Zealand Journal of Obstetrics & Gynaecology·Robert CoccioloneKaren Shand
Jan 7, 2010·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·D S SahotaT K Lau
May 30, 2013·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·José Antonio Sainz BuenoRogelio Garrido
Apr 25, 2012·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·José A SainzEnriqueta Turmo
Jun 15, 2012·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Mar 16, 2017·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Dec 15, 2015·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Dec 1, 2015·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Nov 15, 2007·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A BorrellH Cuckle
Feb 10, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kevin Spencer
Mar 16, 2017·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic

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