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Newborn screening

Newborn screening at Alder HeyNewborn screening services are provided for the detection of phenylketonuria (PKU), congenital hypothyroidism (CHT), haemoglobinopathies (e.g. sickle cell disorders), Cystic Fibrosis and Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD).

At 5-8 days of age a small amount of blood is collected from a heel prick and applied to a blood spot card. These samples are sent to our laboratory for testing.

Approximately 29,000 newborns are screened each year at Alder Hey. The screening laboratory is closely linked to the metabolic section in the biochemistry department (this section uses highly specialised biochemical techniques for the diagnosis and management of inherited metabolic conditions), and also to the clinical specialities of Haematology, Endocrinology, Metabolic Medicine and Dietetic services within the hospital. This enables prompt confirmatory testing for all babies with presumptive positive screening results and subsequent patient follow up.

Up to date information on newborn screening for patients and health care professionals is available via the UK Newborn Screening Programme Centre website

Congenital Hypothyroidism (CHT)

CHT has an incidence of approximately 1 in 3,000 births and occurs when a baby is born with an absence or reduced amount of active thyroid tissue, or a hormone synthesis enzyme defect. This results in a deficiency of the hormone produced by the thyroid (thyroxine or T4). Babies with CHT may show prolonged jaundice dry skin, coarse features, protruding tongue, slow feeding, bradycardia and constipation. If the condition is untreated physical and mental delay will usually follow. Treatment consists of replacing the thyroxine by an oral dose of this hormone in tablet form.

Some babies with CHT may not show any clinical symptoms but all will have a biochemical abnormality which can be detected by the laboratory screening test. Thyroid stimulating hormone (TSH) is raised in CHT and is the basis of the screening test. TSH is measured in a dried blood spot utilising a specific immunological method. Screening for this condition in the newborn was introduced at Alder Hey in 1981.

Phenylketoniuria (PKU)

PKU is much rarer than CHT and has an incidence of approximately 1 in 10,000 births. Screening for this disorder was introduced at Alder Hey in 1969. The disorder is inherited with both parents being asymptomatic carriers. Classical PKU is caused by a deficiency of the liver enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine to tyrosine. Phenylalanine accumulates in the baby’s blood leading to brain damage. The high blood phenylalanine is measured by the laboratory to detect PKU. The laboratory method used to detect high blood phenylalanine concentrations is tandem mass spectrometry.

Babies with PKU do not show any clinical signs at birth but without treatment those with the classical form of the disease become severely and irreversibly mentally handicapped. Treatment by restriction of the intake of dietary phenylalanine enables normal development.


Screening for haemoglobinopathies was introduced at Alder Hey in 2004. Haemoglobinopathies include disorders such as sickle cell disease, an inherited disorder found mostly amongst people of African and Caribbean descent although it also occurs in other ethnic groups. Carriers for the disorder (sickle cell trait, HbAS) are clinically well but untreated homozygotes (sickle cell disease, HbSS) are at risk of anaemia, recurrent infections and life threatening sickle cell crises. The screening diagnosis allows treatment to be started early before children may have become unwell. Treatment includes prophylactic administration of antibiotics and pneumococcal vaccine.

The laboratory methods used to identify sickle haemoglobin are isoelectric focussing (IEF) and high performance liquid chromatography (HPLC).

Cystic Fibrosis

Cystic Fibrosis affects 1 in 2500 babies born in the UK. In this condition there is a problem transporting chloride across cell membranes. This affects certain organs in the body, particularly the pancreas and lungs. In patients with Cystic Fibrosis, the thick secretions in these organs cause digestive problems and chest infections. The abnormal transport of chloride in sweat glands leads to an increased level of chloride in their sweat.

A number of studies suggest that children who are diagnosed following newborn screening might be healthier than those diagnosed later. Newborn screening for Cystic Fibrosis may also reduce any delays in diagnosis, reducing anxiety and uncertainty about why a child is ill. Early diagnosis of a baby with Cystic Fibrosis through newborn screening can also alert the parents to their risk of having other affected children. Biochemical screening for Cystic Fibrosis was introduced at Alder Hey in 2007 and uses a method to detect raised levels of immuno-reactive trypsinogen (IRT).


About 1 in 10,000 babies born in the UK has 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. Screening babies for MCADD is important, so those with the condition can be identified before they become suddenly and seriously ill.

Key contacts

Newborn screening results enquiries 0151-252-5489


Paul Newland, Ext 2486

  • Congenital Hypothryoidism
  • Cystic Fibrosis
  • Phenylketonuria (PKU)

Dr Russell Keenan, Ext 2073

  • Haemoglobinopathy 

Senior Biomedical Scientists

Paul Barton, Ext 2489

  • Congenital Hypothryoidism
  • Cystic Fibrosis
  • Phenylketonuria (PKU)

Paul Walsh, Ext 2559

  • Haemoglobinopathy 

UK Newborn Screening Programme Centre

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Authorised by Paul Newland Director of Newborn Screening
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