Article sections

    Chromosomal and Genetic Conditions

    Screening for Fetal Chromosomal Defects

    The non-invasive prenatal test (NIPT) is a new screening test that helps us to identify if your baby is likely to have a chromosomal condition, for example, Down syndrome, (Trisomy 21), Edward syndrome (Trisomy 18) or Patau syndrome (Trisomy 13).  The blood test can be performed from 10 weeks of pregnancy onwards.

    These tests are not carried out routinely on all pregnant women. It is an ‘opt-in’ service. Costs may apply for these screening tests. Please contact the department for further information.

     

    Diagnosis of Chromosomal and Genetic Conditions

    Chorionic villus sampling (CVS) is a test where a small sample of tissue is taken from your baby’s placenta, which is tested for chromosomal or genetic abnormalities. The test is performed between 10 weeks + 5 days and 14 weeks gestation.

    Amniocentesis involves taking a small amount of amniotic fluid from the pregnancy sac around the baby in the womb, which is tested for chromosomal or genetic abnormalities. This test is performed after 16 weeks of pregnancy.

    Please follow these links for information on these diagnostic tests:
    Chorionic villus sampling
    Amniocentesis

    in Fetal Medicine Tags: chromosomalgenetic