Prenatal Diagnosis for Increased Risk of Down Syndrome
Risk > 1:250 following Down Syndrome screening using a nationally approved Down syndrome screening test, e.g. the combined, triple or quadruple test, or > 1:150 using the integrated test.
Women undergoing invasive testing for a molecular genetic or biochemical genetic disorder (cystic fibrosis, thalassaemia etc) because of a relevant family history or because of a risk identified in their current pregnancy (e.g. following carrier screening for haemoglobinopathies).
Women undergoing other invasive procedures, e.g. transfusion for RhD.
If chromosome aneuploidy is detected futher analysis of cultured cells is performed by G-banded chromosome analysis in order to determine the recurrence risk for the couple.
Last updated: 07/08/2015