Fetal sex determination is performed for women at risk of X-linked conditions, such as Duchenne muscular dystrophy (DMD) or those associated with development of ambiguous genitalia, such as congenital adrenal hyperplasia (CAH). Until recently invasive prenatal diagnosis (IPD), usually CVS, which carries a small risk of miscarriage (1%), was required. NIPD for fetal sexing is now increasingly offered as an alternative to IPD in the UK,allowing women to obtain information about fetal gender from 7 weeks gestation, without risk of miscarriage.1,2
To allow NIPD for these indications to enter mainstream clinical care approval by governance bodies for genetic testing and recognition by commissioners is crucial. To this end, NHS services labs offering NIPD have prepared gene dossiers for fetal sex determination for X-linked conditions (excluding haemophilia) and for CAH for the UK Genetic Testing Network (UKGTN). These dossiers were supported by research from the RAPID programme including the PROOF audit3 and a health economics analysis of fetal sex determination for DMD and CAH.4 The gene dossiers have now been approved and will be uploaded, in due course, on to the UKGTN website.
Work to support the use of NIPD in clinical practice is ongoing and RAPID, in collaboration with Genetic Alliance UK, is currently involved in surveying the opinions of families accessing this test and will use this feedback to develop patient information. In addition, the National Genetics Education and Development Centre are developing educational competencies for health professionals who may discuss this test.
1.Hyett JA, et al. Prenat Diagn 2005;25: 1111-6.
2.Finning KM and Chitty LS. Semin Fetal Neonatal Med 2008;13: 69-75.
3.Hill M, et al. Clin Genet 2010 Aug 19. [Epub ahead of print]
4.Hill M, et al. Prenat Diagn 2011 Jan 4. [Epub ahead of print]