Prenatal Diagnosis

Overview

In the UK all pregnant women are offered initial screening tests, and if indicated, further diagnostic testing for Down syndrome. Currently the diagnostic tests involves, amniocentsis, with a small risk of a miscarriage. It is anticipated that non-invasive diagnostic test, NIPT, will be universally available on the NHS.

Many parents wish to proceed for diagnostic testing to prepare themselves psychologically at the time of their baby’s birth rather than for the purpose of termination. It is important that professionals provide balanced, accurate, up to date information in a sensitive and non-judgmental manner; ensuring that the woman is supported by her partner at the time of imparting the news.

It is useful to direct parents to the Local parents Down syndrome Support group and the Down Syndrome Association.

 

Presentations at DSMIG Meetings

Materials from meetings are available for members only who need to log in to access them. For details on how to become a member click here.

Additional Resources

 

Screening tests for you and your baby (UK)

NHS Screening programmes. pages 18-25

Last accessed 11.2.16

 

Non Invasive pre-natal-testing for Down syndrome in the UK
A guide for patients and healthcare professionals

Last accessed 11.2.16

 

Non-Invasive Prenatal Testing (NIPT) for Down’s syndrome

Antenatal Results and Choices . Last accessed 11.2.16

 

Non-invasive prenatal testing for Down’s syndrome: psychologically speaking, what else do we need to know? L Bryant (2014)

Journal of Reproductive and Infant Psychology, 32:1, 1-4, DOI: 10.1080/02646838.2014.874115

 

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Dondrop et al European Journal of Human Genetics (2015) 23, 1438–1450; doi:10.1038/ejhg.2015.57;

published online 18 March 2015 with a Corrigendum (15 October 2015)

 

Continuing Pregnancy with a Diagnosis of Down’s Syndrome- A guide for parents

Down’s syndrome association England, Wales and Northern Ireland

Last accessed 11.2.16