The input of the National Disease Registration Service (NDRS) into the national evaluation of the NIPT screening roll out has ultimately improved lives for pregnant people and their families. By ensuring the provision of timely results though this programme, NDRS has optimised the time available for families to consider their pregnancy choices, and the time families have to consider their plans for delivery and neonatal care, so that babies are born at the right time in the right place. NDRS' ongoing real time data support of more In-service evaluations, as new screening tests are rolled out, will continue to positively impact on affected families on their diagnostic journey
What is Non-invasive prenatal testing (NIPT)?
Non-invasive prenatal testing (NIPT) screens for Down’s syndrome, Edwards’ syndrome, and Patau’s syndrome using a maternal blood sample to analyse cell-free fetal DNA. It provides pregnant individuals with more information to make informed decisions about further testing and antenatal care.
NIPT was added as an additional step to the existing NHS Fetal Anomaly Screening Programme (FASP) pathway as part of a national evaluative rollout between June 2021 and September 2024, offered to those who receive a higher chance result from first-line screening (the NHS combined test or NHS quadruple test).
The NHS NIPT evaluation
On 1st June 2021, NIPT was added as an additional step to the existing NHS antenatal screening pathway for Down's syndrome, Edwards' syndrome and Patau's syndrome, offered to those who receive a higher chance result from first-line screening (the NHS combined test or NHS quadruple test). Individuals who receive a higher chance result from an NHS combined test or NHS quadruple test must have a discussion with a healthcare professional about their results. They can choose to have:
- no further testing
- NIPT
- prenatal diagnosis (PND) such as chorionic villus sampling (CVS) or amniocentesis
In a small number of cases, NIPT may produce no result. In such cases, individuals can then choose between having a further NIPT, a diagnostic test or no further testing. If NIPT shows a higher chance result, a diagnostic test is offered. Some individuals may decide not to undergo prenatal diagnosis due to the small chance of miscarriage an invasive procedure carries, preferring instead to accept the chance result from NIPT.
NDRS and NIPT
NDRS supported the national evaluative rollout of NIPT by collecting, curating, quality assuring and analysing first-line NHS screening results with NIPT and diagnostic test data. The analytical outputs provided evidence to the UK NSC to allow them to address key unanswered questions regarding NIPT accuracy, patient choices and instances when the test does not give a result. By producing timely data on NIPT, NDRS provides the programme with the evidence to monitor the pathway to ensure testing can be safely integrated into routine care.
Last edited: 27 February 2026 2:56 pm