NIPD for non-invasive fetal sex determination for clinical indications.

These tests are performed during pregnancy when there is a risk of an X-linked disorder or congenital adrenal hyperplasia (CAH). 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.

If you have a patient who is at risk of a sex-linked genetic condition who may benefit from this prenatal test they should be referred to their local genetics team  – (http://www.bshg.org.uk/genetic_centres/uk_genetic_centres.htm)

Contact details for the laboratories offering this test are available here: http://www.rapid.nhs.uk/uk-testing-centres

 NIPD for Down syndrome

NIPD for Down syndrome has recently become available through a commercial company in the USA. To read the International Society for Prenatal Diagnosis (ISPD) statement on this new test please follow this link. http://www.ispdhome.org/public/news/2011/ISPD_RapidResponse_MPS_24Oct11.pdf

In the UK, NIPD tests for Down syndrome are in development and are currently being validated. This test is not available anywhere in the UK at present.