Pregnant women will be offered screening tests for potentially fatal conditions in their babies earlier, it has been announced
Screening for potentially fatal conditions will be offered earlier in pregnancy so women can avoid a later abortion if necessary, it has been announced.
Currently women have a pregnancy scan at 20 weeks to check for serious abnormalities in the baby, some of which can prove fatal before birth or shortly afterwards.
Now blood tests in combination with an earlier scan at 12 weeks can be used to detect the genetic abnormalities called Edward's and Patau's syndromes.
Both are rare, affecting two in every 10,000 births but most babies will die before or shortly after birth.
The conditions are caused by an extra copy of chromosomes 18 and 13.
The UK National Screening Committee (UK NSC) has recommended the changes to earlier tests to help women make choices about the pregnancy.
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.”
Rarely babies with these conditions survive. In Edward's syndrome they may have heart problems, unusual head and facial features, and growth problems, be unable to stand or walk, unable to talk and have problems with their kidneys.
Children with Patau's syndrome who survive may have heart and growth problems, be unable to stand or walk and have poorly formed eyes and ears.
The standard ultrasound scan carried out at around 12 weeks also measures the amount of fluid at the back of the baby's neck, known the nuchal fold translucency which when assessed in combination with a blood test taken from the mother can provide an estimation of the chances of the baby being affected by Down's syndrome. The same process will now be extended to include Edward's and Patau's syndromes.
If Edward’s Syndrome or Patau’s Syndrome are suspected, the mother will be offered another test called an amniocentesis, which involves taking a sample of the fluid surrounding the baby or a chorionic villus sampling (or CVS), which is a sample from the placenta, to make the diagnosis.
Rebecca Smith - telegraph.co.uk
