Changing practice: moving to a specialist nurse-led service for BRCA gene testing.

Some 5-10% of all breast cancers are associated with a pathogenic variant in a breast cancer-associated gene (BRCA1/BRCA2). Historically, with referral to the Nottingham University Hospitals NHS Trust's clinical genetics department for genetic testing, waiting times were on average 12-14 weeks for an initial appointment and 4-6 months to obtain results from the date of testing. A specialist, nurse-led mainstreaming cancer genetics (MCG) service was set up in the trust's Nottingham Breast Institute (NBI) to: reduce waiting times for the initial consultation, counselling, consent and obtaining results for BRCA1/BRCA2 gene testing; and to ensure appropriate patients with breast cancer were offered genetic testing.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age.

Background: The timing of parturition in most mammals is thought to be linked to a late gestational rise in corticosteroid production by the fetal adrenal gland. We hypothesised that gestational age would be prolonged in our patients with impaired cortisol production secondary to congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.

Methods: We compared the gestational age of patients affected by salt-wasting CAH due to 21-hydroxylase deficiency (born 1978-2004; n = 31) with that of children with congenital hypothyroidism (born 1981-2003; n = 30) and a control group of short normal children (born 1980-2002; n = 120).