The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008

Prenatal Diagnosis
Joan K MorrisE De Souza

Abstract

Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. The number of tests per Down, Edwards or Patau syndrome diagnosis adjusted for maternal and gestational age at diagnosis was calculated using routine data from 18 (95%) cytogenetic laboratories in England and Wales in 2008. There were 19,326 tests that identified 1118 diagnoses of Down syndrome and 615 of Edwards and Patau syndromes. There were eight chorionic villus samplings (CVS) per syndrome diagnosis compared with 16 amniocenteses (gestational age adjusted). The lowest number of tests per diagnosis (three for CVSs and for amniocentesis) resulted from an abnormal ultrasound scan. Among pregnant women, 2.9% had an invasive diagnostic test. If a CVS and an amniocentesis increase the risk of a miscarriage by 1% and 0.5%, respectively, approximately one miscarriage for every 14 Down, Edwards or Patau syndrome diagnosis would have occurred. A simple measurement of the population impact of screening for Down syndrome can be calculated using data already collected. Annual estimates should be produced to ...Continue Reading

References

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Apr 25, 2006·Prenatal Diagnosis·George M SavvaEva Alberman
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Jul 3, 2007·Obstetrics and Gynecology·Robert H BallUNKNOWN First and Second Trimester Evaluation of Risk (FASTER) Research Consortium
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Mar 26, 2008·American Journal of Medical Genetics. Part a·Joan K Morris, George M Savva
Jun 9, 2009·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A TaborØ Lidegaard
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Citations

Sep 8, 2012·Current Opinion in Hematology·Nancy Bo Yin Tsui, Yuk Ming Dennis Lo
Feb 6, 2014·Journal of Assisted Reproduction and Genetics·Xiang-Yin LiuRui-Zhi Liu
Jan 18, 2014·BJOG : an International Journal of Obstetrics and Gynaecology·C LewisL S Chitty
May 28, 2014·Prenatal Diagnosis·L A Méndez-RosadoJ Carbonell
Oct 18, 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·Carmen ComasVincenzo Cirigliano
Jan 1, 2012·Diagnostics·Carmen ComasVincenzo Cirigliano

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