At present, women have a pregnancy scan at 20 weeks to check
for severe abnormalities in the baby, some of which can prove fatal before
birth or shortly afterwards. According to the authorities, now blood tests in combination
with an earlier scan at 12 weeks can be utilized to find out the genetic
abnormalities called Edward's and Patau's syndromes.
The UK National Screening Committee (UKNSC) has suggested
the changes to earlier tests to help women make choices about the
"Over 700,000 women get pregnant in the UK every year.
Although over 95 per cent of these pregnancies will be perfectly healthy,
miserably, in a few cases there are problems affecting the baby's development. The new suggestion would give women access to support and
enable them to make important choices at an earlier stage of their pregnancy," said
Dr Anne Mackie, director of programmes for the UK NSC, which is supported by
Public Health England.
The standard ultrasound scan conducted at around 12 weeks
also evaluates the amount of fluid at the back of the baby's neck, known the
nuchal fold translucency which when measured 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.
The syndromes are rare, affecting two in every 10,000
births. Patau's syndrome, also known as trisomy 13, can be fatal. Babies with
the condition may have a wide range of issues that includes heart defects and
Some 75% of pregnancies affected by Edward's syndrome result
in miscarriage or stillbirth. Babies with the syndrome often have major
developmental problems. If Edward's Syndrome or Patau's Syndrome are identified, 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.
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, talk and have problems with their kidneys. Children with Patau's syndrome who survive may have
heart and growth problems, be unable to stand and have poorly formed eyes and