New Wales Down’s Syndrome test ‘to cut miscarriage risk’

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Amniocentesis – where a needle is used to extract amniotic fluid – carries a risk of miscarriage

Pregnant women in Wales are to become the first in the UK to receive a non-invasive test for Down’s syndrome.

The Welsh Government said the blood test, available from Monday, is a safer and more accurate screening for Down’s, Edward’s and Patau’s syndromes.

It will be offered in addition to existing antenatal screening for women found to have a higher chance of having the three.

It is hoped it will cut the miscarriage risk – a factor of the current test.

The Non-invasive Prenatal Testing (NIPT) test will be offered as an alternative to the invasive amniocentesis test currently available, which carries a small risk of miscarriage.

The Welsh Government said it was expected the introduction of the new test would reduce this risk, as fewer invasive tests would be needed.

The new test will not offer a complete diagnosis, as only the invasive test can confirm the syndrome, but aims to better inform women of the risks of having a child with the genetic disorder.

Women who are given a positive NIPT test would not be able to opt for a termination based on that result alone.

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The introduction of the test will be evaluated in the next three years

Health Secretary Vaughan Gething said: “Our antenatal screening programme plays an important role in providing expectant mothers with the information and support they need throughout their pregnancy.

“I’m pleased Wales is leading the way by offering NIPT as part of our programme.”

The screening will also test for Edward’s and Patau’s syndrome in the first three months of pregnancy for women having one baby, and combined screening for Down’s, Edward’s and Patau’s for twin pregnancies.

The decision to implement it in Wales follows expert advice from the UK National Screening Committee.

Sharon Hillier, director of screening at Public Health Wales, said: “It is important that women are supported with information about the conditions and the screening offered so they can make the right decision for them as to whether they want to accept this offer.

“We have worked closely with parents, charities and health professionals to improve the pathway and the information that we provide to pregnant women in Wales.”

What is NIPT?

  • One in every 200 women loses their baby after an amniocentesis, in which the fluid around the developing foetus is tested for genetic disorders
  • NIPT would instead test for fragments of foetal DNA, which reaches the mother’s blood via the placenta
  • It is likely NIPT will only be offered to women who have already received a higher-chance result from a combined screening test, which is available on the NHS
  • The test is currently available privately in Wales