NEW YORK (GenomeWeb) – The UK National Screening Committee today recommended the introduction of noninvasive prenatal testing through an evaluation process as part of the existing National Health Service Fetal Anomaly Screening Program.
The recommendation, which resulted from a meeting of the UK NSC on Nov. 19 and was published today, calls for NIPT to be initially offered as an additional screening test to women deemed at high risk for fetal trisomy 21, 13, or 18 after the current primary screening test.
It took into account results from the NHS Reliable Accurate Prenatal Noninvasive Diagnosis (RAPID) study, published last May, which was funded by the National Institute for Health Research and evaluated NIPT as a contingent test.
Under the existing screening program, women are offered the combined test, which involves an ultrasound scan and a blood test, for the three trisomies at 10 to 14 weeks of pregnancy or the quadrupole blood test for Down's syndrome at 14 to 20 weeks of pregnancy.
If those tests show a risk of at least 1 in 150 for T21, or for T18 and T13 combined, women will now be offered an NIPT rather than proceeding immediately to an invasive diagnostic test like amniocentesis or chorionic villus sampling. The committee stressed, however, that NIPT is not diagnostic and a positive result will still need to be confirmed by an invasive test.
One reason the committee recommended the evaluation of NIPT is because it has the potential to reduce the number of invasive procedures, which carry a small risk of miscarriage. The UK NSC, which said NIPT is known to be highly accurate, hopes to gain a better understanding of how the test will perform as part of a screening program, and what choices women will make at different points in the screening process.
The exact specifications of the evaluation are currently being developed, the committee added, and the results of the evaluation will be reviewed before any further recommendations are made.
The guidelines will next be reviewed in 2018 or 2019, the UK NSC said, and stakeholder groups will be involved, as they were for the current recommendation.
In a statement commenting on the recommendation, Stephen Little, CEO of UK-based NIPT provider Premaitha Health, said that it is "a key milestone for prenatal testing in the UK" as it is the first time that NIPT will be routinely available to high-risk pregnant women through the NHS. This, he added, "sets a precedent that we expect other countries to follow in the near future" and is "an important step towards NIPT becoming available to all pregnant women, not just those at high risk."
Little said that Premaitha, which last year partnered with St. George's University Hospitals NHS Foundation Trust to provide its Iona test to high-risk women, is "extremely well placed to support the NHS with a rapid roll-out of NIPT across the UK."
The UK NSC advises the UK government and the NHS about all aspects of screening and supports the implementation of screening programs.