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

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A Marx-Deseure1, S Carpentier2, D Thomas3

  • 1Pôle d'obstétrique, CHRU de Lille, hôpital Jeanne-de-Flandre, avenue Eugène-Avinée, 59037 Lille cedex, France.

Gynecologie, Obstetrique & Fertilite
|March 28, 2015
PubMed

Insights

Half of Down syndrome (DS) births result from parental choice, while screening failures account for 40%. Optimizing DS care requires better documentation of screening decisions and results.

Area of Science:

  • Perinatal health
  • Genetics
  • Public health

Background:

  • Births of children with Down syndrome (DS) can be influenced by parental decisions or screening inaccuracies.
  • Understanding the context of these births is crucial for improving prenatal care and support.

Purpose of the Study:

  • To investigate the circumstances surrounding births of children with Down syndrome (DS) within a French perinatal health network.
  • To analyze the roles of parental choice and screening effectiveness in DS births.

Main Methods:

  • A retrospective multicenter study was conducted.
  • Prospective registration of all live-born infants with DS between 2010 and 2013 was performed.

Main Results:

  • Sixty-three infants with DS were identified.
  • Complete, incomplete, and no screening occurred in 61%, 29%, and 10% of cases, respectively.
  • 50% of births were by parental choice, 40% due to screening failure, and 10% had unknown parental screening choices. False negatives often showed risks near 1/1000.

Conclusions:

  • Parental choice was a factor in 50% of DS births in this cohort.
  • Improved documentation of medical information, parental screening choices, and screening data is essential for optimizing follow-up care for DS.
Abstract

Keywords:
Choix parentalDown syndromeFailure of screeningMalformationsParental choiceTrisomie 21Échec de dépistage

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