New technology from NPS helps detect genetic conditions in babies

16 February 2015

New technology from Northgate Public Services (NPS) will help to ensure that more babies with serious conditions such as Cystic Fibrosis and Sickle Cell disease can be identified through the NHS Newborn Blood Spot Screening Programme.

Parents can be more confident that their newborn baby will be screened for a number of serious genetic conditions, thanks to the introduction of a national IT system, the Newborn Blood Spot Failsafe Solution, which has been developed and implemented by NPS.

NPS’ Blood Spot Failsafe Solution is now available to all 246 Maternity Units in England, as well as to 159 Child Health Records Departments and the 13 newborn screening labs in England.  

The NHS Newborn Blood Spot Screening Programme offers screening for newborn babies at five days old for a number of serious conditions.  The screen, which requires a midwife to take a small blood sample from the baby, normally at home, enables the early detection and intervention to occur for nine life threatening or debilitating conditions.

The new NPS solution ensures that in England, 99% of babies and their blood spot card receipt are now on the national system, to provide a more failsafe method to help early detection of serious illness. NPS started rolling out the solution in August 2013 and the last two sites have just gone live this year.  It identifies and flags information to maternity units through an on-line and colour coded failsafe list, giving details about any babies that have not been screened, or require a repeat sample to be taken.

Since 05 January 2015, babies have also been offered screening for four additional rare genetic conditions; homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA). The four are in addition to phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD), for which all babies in the UK are offered screening.

The Newborn Blood Spot Screening Failsafe Solution has been developed by NPS in partnership with the NHS Sickle Cell and Thalassaemia, and Newborn Blood Spot Screening Programmes.

Last year more than 1,200 babies, out of 693,000 screened, tested positive for one of the serious conditions screened.

A key component of the new solution is the provision of complete and comprehensive demographic information, such as an accurate list of all babies born and eligible for screening.

Ian Blackhurst, Northgate Public Services’ Executive Director, Solutions, said: “It is reassuring to know that this solution helps to ensure that no babies miss a screen for critical conditions across the country.  Before our Blood Spot Failsafe Solution was introduced, a small number of babies could have been missed, with the potential that one of the babies could have one of the conditions.

“While screening is not the same as diagnosis, this method identifies which babies need to go on to have diagnostic tests to determine whether or not they do have a condition.  By detecting these conditions early, it is possible to treat them and reduce their severity, potentially preventing more serious problems and even saving lives.”