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scans-tests-and-screening

Testing and screening for chromosome abnormalities

What tests and screenings are there available?

Screening for serious health conditions

Your baby's health and development will be regularly checked throughout your pregnancy, including screening for chromosome abnormalities and serious health conditions.

At a glance

  • A nuchal translucency screening checks for any chromosome problems with your baby
  • If you are high risk, you can have a test to check for a chromosomal problem
  • Amniocentesis is a test for Down's syndrome
testing-and-screening-for-chromosome-abnormalities

During your antenatal care you will be offered tests to check on your baby's health, growth and development.

Nuchal translucency screening

One of these tests is called nuchal translucency screening, and it checks for any chromosome problems with your baby.

The nuchal test is done by ultrasound scanning at around 11-14 weeks of pregnancy - sometimes at the same time as your dating scan. The sonographer will measure the thickness of the skin at the back of your baby's neck, and the measurement, along with other factors, such as your age, and the stage of your pregnancy, will be assessed for indicators for Down's syndrome.

Sometimes nuchal screening is done in conjunction with a blood test.

What happens if I'm found to be at high risk?

If you are found to have a higher risk, you can decide whether to have a diagnostic test to find out for certain if your baby has a chromosomal problem. This will either be via chorionic villus sampling or amniocentesis.

Chorionic villus sampling - or CVS - is usually carried out between the 11th and 14th week of pregnancy.

How does CVS works?

A doctor will take a tiny piece of tissue from your placenta via a needle inserted into your tummy. There is a very small risk of miscarriage associated with this test, estimated at 1-2 percent. It is hard to be totally accurate, however, because of the existing rate of miscarriage early in pregnancy.

Amniocentesis is another diagnostic test that will give you a definite answer as to whether your baby has Down's syndrome (or other rare chromosome conditions). It is usually done at 16 weeks, and a small amount of fluid from the amniotic sac in your womb is removed with a needle. The fluid will contain cells from your baby and these will be laboratory tested to tell for certain if there are any chromosomal issues. There is about a 1 in 100 miscarriage risk with amniocentesis.

Support for Down's syndrome

If you find out your baby does have Down's syndrome, your doctors will talk you through your options and offer you support. The Down's Syndrome Association can give you further help and advice.

You can chat to other mums on Bounty.com in the community.  


At a glance

  • A nuchal translucency screening checks for any chromosome problems with your baby
  • If you are high risk, you can have a test to check for a chromosomal problem
  • Amniocentesis is a test for Down's syndrome
During your pregnancy you'll be offered tests to check your baby's health, growth and development

Testing and screening for chromosome abnormalities