Getting a diagnosis during pregnancy

Tests during pregnancy

In some cases, a learning disability may develop before birth. This could be due to:

• the baby suffering damage to the brain or spinal cord
• the mother having an accident or illness during pregnancy
• a genetic condition developing during pregnancy

Screening for Down syndrome cannot say for certain whether your baby has the condition. It tells you if your baby has a lower or higher chance of having the condition.

If your baby has a higher chance of a condition, you'll be offered a diagnostic test that gives a more definite "yes" or "no" answer.

If you want to start a family but have concerns about existing genetic conditions, you can contact a genetic counsellor through one of the regional genetic centres across the UK.

Some pregnant women are offered extra tests, in addition to regular antenatal check-ups and ultrasounds, if there are concerns about their baby's development. These extra tests include Amniocentesis and Chorionic Villus Sampling (CVS).

Amniocentesis

Amniocentesis is a test that takes place during pregnancy to check on a baby's progress, and to see whether they are likely to develop one of a number of genetic conditions. The test is usually recommended for women over 35. It may also be recommended for women who have already had a child with a disability.

Chorionic Villus Sampling (CVS)

CVS is another test that can detect certain genetic conditions. It is an alternative to amniocentesis and can be carried out at an earlier stage of pregnancy.

All tests carried out during pregnancy have risks, so it is important to talk to your doctor and think carefully when deciding whether or not to go ahead.

If tests discover anything, there may be the possibility of early treatment while the baby is still in the womb. Parents have the right to choose to continue with the pregnancy or have a termination.

Positive About Down Syndrome offers support for parents and parents to be.