This paper reports the results of screening 53033 infants for congenital dislocation of the hip between 1970 and 1979, and compares them with the results of a similar screening programme between 1960 to 1969. The number of dislocations missed at neonatal examination is unaltered at 0.11 per cent of live births. Operative treatment was needed in a further 0.07 per cent of the recent series even ...

The standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate between infants with and without classical CAH has been known for some ...

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency has not yet been introduced in the UK, primarily because of uncertainty about the natural history of the disorder and concerns about the specificity of the screening test. To obtain data on these issues, we did a retrospective study in which we analysed the concentrations of acylcarnitines in stored neonatal blood spot...

The clinical and diagnostic aspects of cystic fibrosis have been extensively reviewed, with an emphasis on neonatal screening. This systematic literature review involved a search for relevant contributions in the PubMed and SciELO databases. The first references to cystic fibrosis date to the Middle Ages. Cystic fibrosis is the most frequent autosomal recessive hereditary disease among Caucasia...

Since 1993, targeted screening of high risk Camden and Islington babies has been carried out in hospital using the transient otoacoustic emission (TEOAE) technique and auditory brainstem responses (ABR). Because targeted screening is difficult to implement, a community pilot study using TEOAE was started in 1995, covering 7% of the resident population. Although uptake has not been above 80%, cl...

1. Dussault, J. H., Coulombe, P., Laberge, C., et al., Preliminary report on a mass screening program for neonatal hypothyroidism. J. Pediatr. 86, 670 (1975). 2. Larsen, P. R., and Broskin, K., Throxine (T-4) immunoassay using filter paper blood samples for screening neonates for hypothyroidism. Pediatr. Res. 9, 604 (1975). 3. Walfish, P. G., Screening for neonatal hypothyroidism using a dried ...

OBJECTIVE To evaluate the incidence of congenital hypothyroidism (CH) with delayed TSH elevation among low-birth-weight (LBW) newborns in North-Eastern Italy and to verify if they need a second or third screening. DESIGN Analysis of clinical and biochemical data of newborns affected by CH with delayed TSH elevation identified by neonatal screening. METHODS Data of all newborns with birth we...

To establish the neonatal screening method of glucose-6 phosphate dehydrogenase (G6PD) deficiency, G6PD activity was measured using the fluorescence spot test (FST) using dried blood samples on filter paper. The G6PD/6PGD rate test of venous blood samples was further performed for confirmation. The positive G6PD deficiency rate was 4.2% and its detection rates were 3.7% for all neonates and 5.2...

BACKGROUND Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature...

When I started the neonatal screening in Japan, I could not obtain the necessary information for establishing the national screening system in my own country. Thus, around 1970, I visited H. Bickel, R. Guthrie and several other experts in the field of the neonatal screening in USA and Europe. Through their help, I could learn: (i) the philosophy of the world of screening, (ii) the way to improv...