Expanded newborn blood spot screening

From 5 January 2015, the NHS Newborn Blood Spot Screening Programme has been expanded to screen all newborn babies in England for the following rare, but potentially disabling conditions: maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (HCU).

Testing for these conditions, leading to early detection and treatment, will prevent those babies affected from dying or being severely disabled for the rest of their lives.

The test will be performed using the same blood test that babies currently have at 5–8 days old. This ‘heel prick’ test will be familiar to many midwives and health professionals and is usually taken in the community.

Midwives have been offering this test to newborn babies as part of the NHS Newborn Blood Spot Screening Programme for years and while the same good quality samples are needed, no additional blood is required. The existing conditions screened for through the programme are sickle cell disease (SCD), cystic fibrosis (CF), congenital hypothyroidism (CHT), phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).