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Prenatal genetic testing pilot

From 5 January 2015 within our regional Fetal Medicine Unit there is a service implementation pilot being undertaken jointly with the Bristol Genetics laboratory and Clinical Genetics in order to improve our genetic testing. There are two parts to this development: 

1. For women with a raised Down's syndrome risk on screening but a normal scan, we will offer the PCR rapid test. This is an extremely accurate result for the trisomies (Down's, Edwards and Patau's syndromes), gives a rapid result (in a few days) and low rates of failure to give a result or obtain a difficult to interpret result. This test for this indication has been supported by the Fetal Anomaly Screening Programme of the National Screening Committee since 2006.

Our patient information is available here

Links to relevant  scientific publications follow1 and 2. 

2. For women with abnormalities on ultrasound scanning (including a nuchal translucency measurement > or = 3.5mm) we will be using micro-array comparitive genomic hybridisation testing.

Our  patient information is available here

Links to relevant scientific publications follow12 and 3

We believe this combination of modern tests will provide the best possible information for our patients. However since all tests have advantages and disadvantages please read the information leaflets (links above) and discuss any questions with your Fetal Medicine doctor.