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Earlier genetic disorder tests advised for pregnant women

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Expectant mothers should be offered tests which pick up on serious generic problems earlier on in pregnancy, experts have said.

Tests for Edward’s syndrome and Patau’s syndrome are usually offered to mums-to-be during a scan which takes place at around 20 weeks of pregnancy, but the UK National Screening Committee recommended that the test should be offered earlier on.

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

Anne Mackie

Earlier testing combining the use of a blood test with a scan would enable women to make “important choices at an earlier stage of their pregnancy”, the committee said.

Patau’s syndrome, or trisomy 13, can be fatal and all babies affected will have a “wide range of problems” including brain abnormalities or heart problems. And nearly three-quarters of babies with Edwards’ syndrome, also known as trisomy 18, are miscarried or stillborn and those which survive beyond one year will have a developmental disability. The conditions affect around two in every 10,000 births in the UK each year.

Dr Anne Mackie is director of programmes for the screening committee, which is part of Public Health England.

UK national screening committee

Anne Mackie

She said: “Over 700,000 women get pregnant in the UK every year. Although over 95% 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,” she added.

In England the move has been given ministerial approval and experts are now in discussions about how and when the programme will be rolled out, a Public Health England spokeswoman said.


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Readers' comments (1)

  • More tests, more abortions! I know a dear, brave lady who gave birth to a baby affected by Edwards syndrome. They told her to go home and leave the baby with staff to die. She refused saying," No He is my son and he's coming home with me." He lived 9 months and the lady said that she would not have been without that time because it was a very special time, a time to give and feel a lot of love.

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