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This article is from the WebMD News Archive

Earlier pregnancy genetic screening

WebMD UK Health News
Medically Reviewed by Dr Farah Ahmed

7th August 2014 -- UK screening advisors are recommending earlier screening during pregnancy to test babies for two extremely rare but very serious chromosomal (genetic) abnormalities: Edwards' and Patau's syndrome.

SOFT, the UK charity helping those affected by the conditions, also known as trisomy 18 and trisomy 13 respectively, says, according to the latest figures for England and Wales, 7 out of 10,000 births are affected by Edwards' syndrome and nearly 3 out of 10,000 are affected by Patau's syndrome.

Most diagnoses are made in the antenatal period.

Most babies affected by these conditions will die before or shortly after birth.

Edward's syndrome/trisomy 18

In almost all cases of Edward's syndrome, the child develops three copies of chromosome 18 in each cell of their body, instead of the usual two.

The extra genetic material disrupts the baby's normal course of development.

Nearly three-quarters of babies with this syndrome are miscarried or stillborn. Only 5-10% of babies with full Edwards' syndrome survive beyond one year, and they will live with severe disabilities.

Patau's syndrome/trisomy 13

In Patau's syndrome there are three number 13 chromosomes in every cell instead of the normal pair.

It's named after the doctor who first described the extra chromosome in 1960.

Babies with this condition don't usually survive for more than a few days after birth.

Down's syndrome is caused by an extra chromosome 21, and is also called trisomy 21.

Earlier scan

Edwards' Syndrome and Patau’s Syndrome can be detected through a scan which is currently offered to all women between 18 and 20 weeks of pregnancy in England as part of the NHS Foetal Anomaly Screening Programme. However, earlier testing combining a blood test and scan during the woman’s first trimester of pregnancy can identify whether the woman has an increased risk of having a baby with one of these conditions.

Dr Anne Mackie, director of programmes for the UK National Screening Committee, which is supported by Public Health England, says in a prepared statement: "Over 700,000 women get pregnant in the UK every year, and although 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."

Commenting on the new recommendations in a statement, Mervi Jokinen, practice and standards professional advisor at the Royal College of Midwives says: “This is a recommendation that has the support of the Royal College of Midwives. It will enable the women to make choices about their pregnancy with early information and to get the best available care and support from midwives and other health professionals.

“It also highlights the need for pregnant woman to be seen by maternity services as early as possible."

Reviewed on August 07, 2014

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