[Birth of a child with Down syndrome: parental choice or failure of screening policy?]

Abstract

Objectives: Birth of a child with Down syndrome (DS) can follow parental choice or failure of screening. The objective of this work is to describe the circumstances of births of children with DS in a French perinatal health network.

Methods: Retrospective multicentric study, with prospective trial registration of all children born alive with DS, between 2010 and 2013.

Results: Sixty-three children were born with DS. Complete screening was performed by 61 % of patients, incomplete screening by 29 % of patients and no screening test by 10 %. Among these births, 50 % occurred following parental choice, 40 % following failure of screening and for 10 %, parental choice concerning screening was unknown. False negative had often calculating risk close to 1/1000.

Conclusion: In this study, the birth of a child with DS occurred following parental choice in half of cases. It's necessary, to optimize the follow-up, to document in medical records the medical information and parental choice concerning DS screening and data of screening when this was done.

Keywords: Choix parental; Down syndrome; Failure of screening; Malformations; Parental choice; Trisomie 21; Échec de dépistage.