Conditions identified

This list above provides links regarding conditions that can be identified by NIPT. This information is not comprehensive, and specific questions should be addressed to a paediatrician or clinical geneticist.

Abnormalities in the number of X and Y chromosomes typically cause fewer problems than abnormalities in the number of chromosomes 13, 18 and 21 or deletion of 22q11.2. This is not surprising as healthy men and women have different numbers of these chromosomes: males have an X and a Y chromosome (XY), while females have two X chromosomes (XX). Nonetheless, having something other than XX or XY is associated with an increased chance of various problems.

Information about conditions involving the X and Y chromosomes can be limited or conflicting. In the past, the medical literature focussed on children with problems in growth or development who also had abnormalities of these chromosomes, and it was assumed that the problems were caused by the abnormal number of X or Y chromosomes. More recent studies show that some people with abnormalities in the number of X or Y chromosomes may remain healthy and have no apparent medical or developmental problems in childhood or adult life.