Laboratories offering non-invasive fetal sex determination

London North East Thames Regional Molecular Genetics Service (Great Ormond Street Hospital, London) NE Thames Regional Molecular Genetics Laboratory, Great Ormond Street Hospital NHS Trust Level 6 York House 37 Queen Square London WC1N 3BH United Kingdom Telephone: 0207-762-6888 FAX: 0207-813-8196 Email: lucy.jenkins@gosh.nhs.uk North West Regional Molecular Genetics Service (Manchester) Regional Genetic Service St Marys Hospital Hathersage Road Manchester M13 0JH Telephone: 0161-276-6122 Alt. Telephone: 0161-276-6605 Fax: 0161-276-6606 Web: www.mangen.co.uk The international blood group reference laboratory International blood group reference laboratory North Bristol Park Filton Bristol BS34 7QG Telephone: 0117 921 7500 Fax: 0117 912 5796 West Midlands Regional Genetics Laboratory West Midlands Regional Genetics Laboratory Birmingham Women’s NHS Foundation Trust Metchley Park Road Edgbaston Birmingham B15 2TG Telephone: 0121 627 2710 Fax: 0121 627 2711...

NIPD guidance for commissioners

The RAPID team have produced the following new guidance for commissioners on the introduction of cell-free fetal DNA for fetal sex determination in serious genetic disorders. X-linked disorders care pathway CAH Care...

The status of NIPD testing in the UK

Currently in the UK NIPD testing is only available for non-invasive fetal sex determination for clinical indications. These tests are performed when there is a risk of an X-linked disorder or Congenital Adrenal Hyperplasia. Fetal sex can be determined by testing cell free fetal DNA (ffDNA) extracted from maternal plasma for the presence or absence of Y chromosome sequences. Specific tests for genetic conditions or chromosomal conditions such as Down syndrome are still in development and will not be available in the UK for a number of years. For clinical information patients should contact their...

UKGTN approval of gene dossiers for NIPD for fetal sex determination for clinical indications

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. REFERENCES 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...