Surgical management

Surgery plays an important role in various genetic disorders.
Many primary congenital malformations are amenable to
successful surgical correction. The presence of structural
abnormalities is often identified by prenatal ultrasound
scanning, and this allows arrangements to be made for delivery
to take place in a unit with the necessary neonatal surgical
facilities when this is likely to be required. In a few instances,
birth defects such as posterior urethral valves, may be amenable
to prenatal surgical intervention. In some disorders surgery
may be required for abnormalities that are secondary to an
underlying metabolic disorder. In girls with congenital adrenal
hyperplasia, virilisation of the external genitalia is secondary to
excess production of androgenic steroids in utero and requires
reconstructive surgery. In other disorders, structural
complications may occur later, such as the aortic dilatation that
may develop in Marfan syndrome. Surgery may also be needed
in genetic disorders that predispose to neoplasia, such as the
multiple endocrine neoplasia syndromes, where screening
family members at risk permits early intervention and improves
prognosis. Some women who carry mutations in the BRCA1 or
BRCA2 breast cancer genes elect to undergo prophylactic
mastectomy because of their high risk of developing breast
cancer.