Newborn babies will be tested for four more disorders, committee decidesBMJ 2014; 348 doi: https://doi.org/10.1136/bmj.g3267 (Published 13 May 2014) Cite this as: BMJ 2014;348:g3267
- Nigel Hawkes
Four new genetic disorders will be added to those already screened for in newborn babies, the UK National Screening Committee has announced.
The decision followed a 12 month pilot study at six centres in England, which found 12 confirmed cases of these four rare conditions in just under 440 000 births, using blood samples taken from the “heel prick” blood test given to all newborns at 5 to 8 days of age.
The test is already used to screen for phenylketonuria, hypothyroidism, sickle cell disease, cystic fibrosis, and medium chain acyl-CoA dehydrogenase deficiency. To these five conditions four more will now be added: homocystinuria, maple syrup …