New tests for newborn babies will ‘prevent death and disability’

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NEWBORN babies are to be given new screening tests for four rare genetic disorders, doctors have announced today.

The UK National Screening Committee has recommended every baby should be screened for the additional disorders during routine testing.

Public Health England said it will be rolled into part of the existing screening programme.

It follows a pilot programme run by experts at Sheffield Children’s Hospital, which involved screening more than 700,000 babies for the conditions. A total of 47 possible cases were detected and 20 cases confirmed.

The disorders to be screened for are: Homocystinuria, which affects around four to five babies in England each year ; Maple Syrup Urine Disease, which affects seven babies a year; Glutaric Aciduria type 1, which is seen in around one in every 110,000 children born in England each year and Isovaleric Aciduria, which affects one in every 150,000 babies

The screening committee said testing for the conditions will lead to early detection and treatment and can prevent affected babies from dying or being severely disabled.

Prof Jim Bonham, national lead for the pilot project and director for newborn screening at Sheffield Children’s NHS Foundation Trust, has welcomed today’s announcement.

He said: “This is fantastic news and everyone who has been involved in the pilot should be really proud of the part they have played in this development.

“As a result of this study 20 children with serious but treatable disorders were discovered.

“We are delighted with the results because it shows how we can make an enormous difference for these children and their families, in some cases giving them the gift of life.”

At present, babies have a heel prick test when they are five to eight days old to test for five conditions - phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Now this test will include the additional four conditions.

The Royal College of Midwives’ director for midwifery Louise Silverton said: “This test can make a huge difference for babies, mothers and families.”