NIPD for
single gene disorders in a fetus is diagnostic, as it targets specific genetic changes present in a high risk family.
To date, this appears to be the case in 15 infants with
the single gene disorder SMA.
A «
single gene disorder» is the result mutation (s) in a single gene, whereas multigenic disorders are caused by abnormalities in several genes.
Single gene disorders are much easier to characterise, investigate and develop diagnostic tests for.