Congenital hypothyroidism (CH) is one of the most common preventable causes of mental retardation. Newborn screening and thyroid therapy started within 2 weeks of age can normalize the cognitive and motor impairment caused by lack of thyroid hormone during the early postnatal phase of brain development. The availability of assays to determine thyroxin (T4) and thyroid stimulating hormone has al...

Neonatal hyperbilirubinemia is a frequently encountered problem in the neonatal period and carries a potential risk of encephalopathy. Early detection and quantification is important, and transcutaneous bilirubinometry (TcB) has been recommended as a non-invasive method for rapid screening. We prospectively compared the efficacy of TcB in 65 normal Pakistani jaundiced newborns undergoing simult...

hanks to the efforts of Dr. Robert Guthrie at the beginning f the sixties, neonatal screening has become a true diagnosic tool for diseases that, if not detected early, can result in mportant complications to the health of the child.1 Today, eonatal screening represents one of themain advances in the revention of pediatric diseases, and is based on diagnosing athologies that are relatively freq...

BACKGROUND A neonatal haemoglobinopathy screening programme was implemented in Brussels more than a decade ago and in Liège 5 years ago; the programme was adapted to the local situation. METHODS Neonatal screening for haemoglobinopathies was universal, performed using liquid cord blood and an isoelectric focusing technique. All samples with abnormalities underwent confirmatory testing. Major ...

1. Nelson HD, Bougatsos C, Nygren P. Universal newborn Hearing screening: systematic review to update the 2001 US Preventive Services Task Force Recommendation. Pediatrics. 2008;122:e266-76. 2. American Academy of Pediatrics, Joint Committee on Infant Hearing Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs. Pediatrics. 2007;120:898-9...

There have been significant advances in the methods available for the detection and investigation of individuals with inherited metabolic disorders. The burgeoning of molecular biology in recent years and the discovery of new classes of inherited metabolic disorders, such as inborn errors of fat oxidation, are well known. What is perhaps less well recognised, is that there have been comparable ...

Two groups of patients with cystic fibrosis were compared. The screened group, detected with an improved neonatal screening assay for immunoreactive trypsin, developed fewer chest infections requiring treatment and gained more weight than the unscreened group. Early diagnosis by screening seems to affect early morbidity.

Scope of this discussion Hearing impairment in childhood may be conductive or sensorineural or a combination of the two (mixed) with additive eVects. Impairments aVect one or both ears, vary from mild to profound in degree, and may be congenital, acquired, transient, fluctuating, recurrent, progressive, or permanent. Screening positive for hearing impairment at any age leads firstly to the need...