Non-Invasive Prenatal Testing (NIPT)

NIPT is a way of screening for Down’s syndrome, Edwards' syndrome and Patau's syndrome in a developing baby by analysing cell free DNA (cfDNA) in the blood of a pregnant individual.

The National Congenital Anomaly and Rare Disease Service (NCARDRS) supports the evaluative rollout of non-invasive prenatal testing (NIPT) by collating data about pregnant individuals who have had the screening test and linking it to the registration data. The aim is to answer questions raised by the UK National Screening comittee (UK NSC) on the choices pregnant individuals make, the accuracy of NIPT in finding Edwards syndrome and Patau's syndrome and how often NIPT does not give a result, amongst others. NCRADRS evaluation will assist the screening programme to help provide pregnant individuals with more information about how NIPT works and aims to improve choice and outcomes for thos undertaking the test.

In June 2021, NIPT was added as an additional step to the existing NHS antenatal screening pathway for Downs Syndrome, Edwards Syndrome and Patau's syndrome offered to those who received a higher chance combined or quadruple test. NCARDRS is responsible for the evaluation of NIPT, and this work has been prioritised across the organisation. The UK NSC has raised specific evaluation questions that we intend to report as part of this service. Ongoing, timely surveillance of NIPT tests is fundemental in supporting this valuable, high profile screening test and in turn will be used to inform service delivery.

For more information you can read the guidance on screening for Down's syndrome, Edward's syndrome and Patau's syndrome. 

Further information on the evauation can be found on the Experimental FASP NIPT metics - GOV.UK (www.gov.uk)