During the antenatal period, several checks are undertaken to try and detect possible health complications in the baby, arising from chromosome abnormalities. These tests might include blood tests and ultrasound scans. These investigations will test for conditions such as Down’s Syndrome, Edward’s Syndrome and Patau’s syndrome,
The purpose of such tests is to ensure earlier, more effective treatment for the baby and mother, in addition to the ability to make informed decisions.
If initial screening tests indicate that there is a higher risk of the baby having a genetic condition, doctors may offer more focused diagnostic tests, for example, an amniocentesis. This is when a long, thin needle is inserted into the mother’s abdominal wall, guided by an ultrasound image. The needle is passed into the amniotic sac that surrounds the baby and a small sample of amniotic fluid is taken for analysis. This type of test does carry risks – however, antenatal doctors and midwives will provide more detailed advice about this. The NHS website also provides a useful overview of different tests available and what to expect.
If a genetic diagnosis is formally reached, care in pregnancy and birth should be adapted to ensure specialist support is on hand.