Primary prevention
If parents are known to be carriers of a particular disorder, such as in autosomal-recessive and X-linked recessive conditions, genetic counselling can be offered to discuss options such as antenatal diagnosis, termination, and pre-implantation genetic diagnosis. Although the effects of virilisation on an affected 46,XX female fetus with congenital adrenal hyperplasia due to 21 hydroxylase deficiency may be diminished by the use of antenatal maternal dexamethasone, this intervention remains controversial and should be undertaken in the setting of a clinical trial as the long-term safety profile is unknown.[15][16]
Use of this content is subject to our disclaimer