Audit improves neonatal (Guthrie) screening programme

Audit of neonatal screening programme for phenylketonuria and congenital hypothyroidism.

The performance of the neonatal screening programme was audited against clinical standards in the Bath clinical area from 1 April 1994 to 31 March 1996. The standards and policy were agreed by local service provider representatives of the screening and were audited, using laboratory and child health computer systems and medical records. Two annual reports were produced with recommendations for ...

Audit of newborn screening programme for congenital hypothyroidism.

Newborn screening for congenital hypothyroidism (CH) was implemented in Hospital UKM in December 2004 using cord blood sample. From the audit over a period of 25 months, a total of 13,875 newborn babies were screened with a coverage of 98.8%. From this cohort, the mean recall rate was 0.32%; unfortunately the mean percentage of recalled babies that came for retesting was only 79.5%. In addition...

Sickle cell disease: time for a targeted neonatal screening programme.

Ireland has seen a steady increase in paediatric sickle cell disease (SCD). In 2005, only 25% of children with SCD were referred to the haemoglobinopathy service in their first year. A non-funded screening programme was implemented. This review aimed to assess the impact screening has had. All children referred to the haemoglobinopathy service born in Ireland after 2005 were identified. Data wa...

Neonatal Screening for Congenital Hypothyroidism with Focus on Developing an Indian Screening Programme

N eonatal screening for congenital hypothyroidism, along with eradication of iodine deficiency in large parts of the world, has made it possible to prevent the development of permanent neurological impairment due to thyroid hormone deficiency in the developing brain. The first successful screening programme was demonstrated in Canada in 1973 and since then it has been standard of care in most d...

Newborn screening: from Guthrie to whole genome sequencing.