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GSTS Pathology heralds baby screening: 175 babies’ lives helped in last year

2nd November 2010

Improving babies’ quality of life: public invited to special event to help raise awareness of the life-saving role of newborn bloodspot screening.

GSTS Pathology is supporting this year’s National Pathology Week (NPW), whose theme this year is ‘Mothers and Babies’, by hosting an event to help raise awareness among the public of the specialty of newborn screening.  ‘Babies need pathology: meet the scientists and find out why’ will be held on 3rd November, 12-2pm in ‘Bird Hall’, Ground Floor, North Wing, St. Thomas’ Hospital.

Approximately 90,000 babies from across the South East region have been screened by the Newborn Bloodspot Screening team at GSTS Pathology since its launch in February 2009, through a simple blood test that screens for five serious disorders (see notes for details).  175 babies were picked up as positive in the last twelve months for one of the five conditions. That makes approximately 1 in 333 babies in Kent, Sussex and South East London for whom action to either save their lives or significantly improve their quality of life could be taken as a direct result of the newborn screening programme.  Such action prevents many serious ill-effects including permanent physical and mental disability (see table below for detail).

Newborn screening is offered universally in the UK to every baby over five days old.

The public event on 3rd November will offer an overview of the specialty alongside information on the testing and treatment of sick babies.  One disorder tested, phenylketonuria (PKU), requires a very low protein diet, and there will be special low-protein foods to taste alongside their protein-rich equivalents in order to offer insight into life with the disorder for those attending.

Fiona Carragher, Laboratory Director for Newborn Bloodspot Screening at GSTS Pathology, said: “Many people are unaware of what Newborn Bloodspot screening is until they have their baby and even then sometimes don’t fully understand why it’s being done. The important thing to know is that if the five conditions we test for are not detected in the child’s first month or so after birth, quality of life severely diminishes.  Early detection of a condition means that it can be effectively managed.

“We are proud to support National Pathology Week and our aim is to educate the general public on the importance of newborn bloodspot screening.  We welcome any member of the public to join us on the 3rd November when members of the GSTS Pathology South East Newborn Bloodspot Screening team will be on hand to answer any questions.”

How screening improves lives
Phenylkentonuria (PKU) - Babies with this inherited condition are unable to process a substance in their food called phenylalanine.  If untreated, they will develop serious, irreversible, mental disability which can be avoided with early detection.  Early awareness also means the condition can be treated via special diet.

Congenital hyperthyroidism (CHT) - Babies with CHT do not have enough of the hormone thyroxine.  Without this hormone, they do not grow properly and can develop serious permanent, physical and mental disability.  If caught early this can be treated with thyroxine tablets which will prevent serious disability and allow normal development.  If detected too late, the baby is at risk of becoming seriously disabled.

Sickle Cell disorders - If this disorder is caught via the screening it means that a baby can receive early treatment, including immunisations and antibiotics, which, along with parent education, will help prevent serious illness and allow the child to live a healthier life.

Cystic Fibrosis (CF) Screening - Cystic Fibrosis affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus.  With early detection special dietary measures, physiotherapy and medication can be implemented. Although there is no cure, quality of life will be much improved if steps to manage the condition are taken early.

Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency (MCADD) - Babies with this inherited condition have problems breaking down fats to make energy for the body. This can lead to serious illness, or even death. Screening means that most babies who have MCADD can be recognised early, allowing special attention to be given to their diet, including making sure they eat regularly. This care can prevent serious illness and allow babies with MCADD to develop normally.

National Pathology Week was developed by the Royal College of Pathologists to promote pathology and to increase understanding of the specialty and the vital role it plays in modern health care.  This year’s theme is mothers and babies and has a tag line of ‘Pathology: the building blocks of life’.  Events are running up and down the country between from 1-7 November, many of which are open to the public.

GSTS Pathology event details
‘Babies need pathology: meet the scientists and find out why’ will be on 3rd November, 12-2pm, 'Bird Hall', Ground Floor, North Wing, St Thomas' Hospital, SE1 7EH.

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