Prenatal Diagnosis


In the UK, all pregnant women are offered initial screening tests, from 10 weeks of pregnancy, referred to as the combined test, and if indicated, further diagnostic testing for Down syndrome.

Non-Invasive Prenatal Testing (NIPT), is a relatively new method of screening, this involves analysing cell-free maternal and fetal DNA in the mother’s blood, from 10 weeks of gestation. The sensitivity of testing for Down syndrome is reported to be 97.4%. However, there can be false negative, false positive and inconclusive results.

NIPT for Down syndrome is not yet available in the NHS, except as a part of a research project, in a small number of hospitals. It is, however, available through a number of private companies. Research, is being done to evaluate the technology and assess how it may be introduced, within the NHS.

Currently, confirmatory diagnostic tests for Down syndrome involve an amniocentesis, this carries a small risk of a miscarriage.

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 helpful to signpost parents to the local parents’ Down syndrome support group and the Down’s Syndrome Association to obtain further information.


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)
pages 18-25
Last accessed 27.3.2019

Non Invasive pre-natal-testing for Down syndrome in the UK
Last accessed 27.3.19

Tests explained: non-invasive Prenatal Testing (NIPT) for Down’s syndrome 
Last accessed 27.3.19

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.

Perspectives of pregnant people and clinicians on noninvasive prenatal testing: a systematic review and qualitative meta-synthesis. Ont Health Technol Assess Ser [Internet]. 2019 Feb;19(5):1–38.

Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis Taylor-Phillips S, Freeman K, Geppert J, et al

Continuing Pregnancy with a Diagnosis of Down’s Syndrome
Last accessed 11.2.16

Shiela Puri
Consultant Community Paediatrician