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Genetic counselling can be helpful for some people when planning or during pregnancy. Find out about genetic counselling and what to expect.

Screening for carrier status is a blood test to see if you carry genes that are linked to certain health conditions. Learn more about this test here.

Down syndrome is a common chromosomal disorder. Find out about the screening and diagnostic tests to detect the condition before your baby is born.

Amniocentesis is a diagnostic test, done during pregnancy, to assess whether the baby has an abnormality or serious health condition. Find out what’s involved.

A nuchal translucency scan is an ultrasound scan that helps in work out your risk of having a baby with chromosomal abnormality like Down syndrome.

Prenatal screening tests assess the chance of some medical problems your baby may have. Your healthcare provider can help decide if they're a good idea.

Chorionic villus sampling (CVS) is a test done during pregnancy, where a sample of cells from the placenta is used to check for genetic conditions.

A non-invasive prenatal test (NIPT) is a sensitive test to screen for Down syndrome and some other chromosomal disorders early in pregnancy.

People with Fragile X syndrome have intellectual disability, behavioural and learning challenges as well as certain physical characteristics.

Health problems present from birth include any health condition that a baby is born with and are sometimes called birth defects, birth differences or congenital anomalies.