Pregnant women should be screened earlier for genetic disorders

Pregnant women should be screened earlier for genetic disorders

Pregnant women should be screened earlier for genetic disorders

First published in News by

PREGNANT women should be screened earlier for chromosomal disorders.

That’s the opinion of the UK National Screening Committee (NSC), which has announced that tests for genetic abnormalities Edwards’ Syndrome and Patau’s syndrome, also known as Trisomy 18 and Trisomy 13, should be done in the first trimester.

The organisation says the move would enable women to make choices at an earlier stage of their pregnancy, but there are fears that screening too early can increase the risk of miscarriage in a potentially healthy baby.

Erika Thompson, who works as a midwife for the NHS and also for Wessex Independent Midwives, said women were currently tested at 12 weeks for Down’s Syndrome, but that the nuchal screening carried out could also pick up other chromosomal disorders.

She added: “If that woman comes back high risk she is offered further testing which is an amniocentesis, that gives you a definite diagnosis and that’s done a little bit later, it can be up to 20 weeks or later.

“Testing earlier can give parents a longer time to digest the information, but if you do invasive testing early, then you’re increasing the risk of miscarriage potentially with a normal baby.”

Erika added that there were hopes a new blood test, called the Harmony Test, which is currently only available privately, would be rolled out on the NHS.

She said: “It picks up the foetal cells in the mother’s blood and has a high success rate. That can be done early.”

Dr Anne Mackie, director of programmes for the UK NSC, which is supported by Public Health England, said: “Over 700,000 women get pregnant in the UK every year, and although over 95 per cent of these pregnancies will be perfectly healthy, sadly, in a few cases there are problems affecting the baby’s development.

“This recommendation would give women access to support and enable them to make important choices at an earlier stage of their pregnancy.”

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