The UK health authorities have announced, screening for potentially fatal conditions will be offered earlier in pregnancy so women can avoid any risk in the future. 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 pregnancy.
“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 neurological abnormalities.
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.