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At least 343 records · Page 19Linked to original sources
PubMed1995

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses.

We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if necessary, by direct DNA sequencing. Over an 18-month period we screened 32,300 neonates born in the western part of Britanny. The first tier, involving IRT screening at 3 days of age, utilizes a low elevation of the trypsinogen level (600 ng/ml), which is highly sensitive. The second tier, which corresponds to the exhaustive screening for mutations in three exons of the gene, is highly specific for this population (Britanny). The false positive rate is very low, and no false negatives have been reported to date. This strategy has allowed the identification of five novel alleles (V322A, V317A, 1806 del A, R553G, G544S).

Base Sequence↗
PubMed2004

Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (CYP21) deficiency causes symptoms ranging from life-threatening neonatal adrenal crises to minimal virilization in adulthood. The relationship between CYP21 genotype and phenotypic markers in a non-screened population of 73 CAH children (44 female, 29 male; 54 white, 19 Asian) treated at the Royal Manchester Children's Hospital was investigated and ethnic and sex differences assessed. The patients were categorized according to the mutation on the mildest allele. The age at the time of diagnosis differed significantly between the groups (p = 0.02): all 25 Null and 25 of 26 of the I2 splice patients were diagnosed during the neonatal period, whereas 7 of 11 I172N patients were diagnosed late. Degree of female genital virilization, 17-hydroxyprogesterone level at diagnosis, and fludrocortisone requirement during the 1st year of treatment correlated with the genotype, although Asian Null patients required more fludrocortisone than their white counterparts (p = 0.055). There was an equal sex ratio in both the I2 splice (12 female/14 male) and I172N (5 female/6 male) groups. However, in the Null group, the ratio was 4.0 (20 female/5 male; p = 0.003), suggesting that some Null male infants perish before being clinically detected to have CYP21 deficiency. Our findings strongly support the need for implementation of a neonatal screening programme for CAH in the UK which may reduce the male infant mortality.

Adrenal Hyperplasia, Congenital↗
PubMed2006

Economics of tandem mass spectrometry screening of neonatal inherited disorders.

OBJECTIVES: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). METHODS: A systematic review of clinical efficacy evidence and cost-effectiveness modeling of screening in newborn infants within a UK National Health Service perspective was performed. Marginal costs, life-years gained, and cost-effectiveness acceptability curves are presented. RESULTS: Substituting the use of tandem MS for existing technologies for the screening of PKU increases costs with no increase in health outcomes. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS, with an operational range of 50,000 to 60,000 specimens per system per year, would result in a mean incremental cost of -pound 17,298 (-pound 129,174, pound 66,434) for each cohort of 100,000 neonates screened. This cost saving is associated with a mean incremental gain of 57.3 (28.0, 91.4) life-years. CONCLUSIONS: Cost-effectiveness analysis using economic modeling indicates that substituting the use of tandem MS for existing technologies for the screening of PKU alone is not economically justified. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS would be economically attractive.

Acyl-CoA Dehydrogenase↗
PubMed1988

Neonatal screening for cystic fibrosis in Wales and the West Midlands: 1. Evaluation of immunoreactive trypsin test.

A study programme was set up in Wales and the West Midlands to evaluate serum immunoreactive trypsin screening for cystic fibrosis in neonates using blood spots collected for metabolic screening. By screening half the blood spots from each area, it was hoped to generate two comparable groups of fibrocystic children; those detected by screening and those not screened who would be diagnosed clinically. Over almost three years, more than 120,000 specimens were screened and 37 infants detected with cystic fibrosis. Four additional fibrocystic patients were missed on screening: two had negative immunoreactive trypsin values, of which one had meconium ileus, and two, although giving initial positive tests, were negative on follow up. Excluding infants known to be at risk, comparison of the numbers of children detected in the screened and unscreened groups showed more than a two-fold difference in favour of the screened group. There may be a large number of undiagnosed fibrocystic patients in the general population.

Clinical Enzyme Tests↗
PubMed1997

Neonatal screening for congenital hypothyroidism: results and perspectives.

Systematic screening for congenital hypothyroidism in the neonate constitutes a major progress in the prevention of mental retardation, as the condition occurs in 1/4,000 newborns and necessarily results in brain damage if not properly detected and treated during the first days of life. Screening and diagnostic and therapeutic procedures are discussed, as well as outcome and prognosis of the affected infants. Primary thyroid-stimulating hormone screening is almost universally recommended. Early therapy (within 14 days) with appropriate doses of thyroxine (about 10 micrograms/kg/day) will prevent any brain damage even in case of evidence of fetal hypothyroidism, as thyroxine of maternal origin will reach the fetus and largely protect him. Neonatal thyroid screening is also a particularly sensitive monitoring tool in the evaluation of the effects and of the correction of iodine deficiency at the population level.

Adolescent↗
PubMed2005

High prevalence of congenital hypothyroidism in the Greek Cypriot population: results of the neonatal screening program 1990-2000.

OBJECTIVE: To evaluate the results of the screening program for congenital hypothyroidism (CH) in the Greek Cypriot population. CHILDREN AND METHODS: During 1990-2000, 109,532 neonates were screened by TSH determination. Permanent CH was proven with biochemical findings after discontinuation of treatment for scintigraphy at the age of 3 years. RESULTS: Permanent CH was diagnosed in 61 infants, incidence 1/1800, with female/male ratio 2.05/1. The most common clinical findings were omphalocele (61%), large anterior fontanelles (49%) and edema of the eyelids (34%). The more delayed the bone maturation, the lower were initial T4 levels (p = 0.005). Bone maturation tended to be more advanced in thyroid hypoplasia and more delayed in thyroid agenesis (p = 0.049). Scintigraphy of the thyroid with TC99 revealed ectopia in 38%, thyroid agenesis in 36%, thyroid hypoplasia in 24% and dyshormonogenesis in 1.7%. Children with transient CH had significantly lower T4 and higher TSH values initially compared to those with permanent CH after birth; initial TSH level, however, failed to predict the nature of CH. Children with transient CH required less thyroxine dosage to maintain normal thyroid hormone levels and they had a normal thyroid gland on scintigraphy. The TSH level was normalized before the age of 2 months with a starting L-thyroxine dose of 10 microg/kg/daily. CONCLUSIONS: The incidence of primary CH in Greek Cypriots is 1/1800 live births. The most common etiology is thyroid dysgenesis. Initial T4 levels correlated with the degree of skeletal maturation and the etiology. Initial TSH level, although lower in children with transient CH, could not predict the nature of CH.

Bone Development↗
PubMed1989

Neonatal screening for congenital hypothyroidism in Pakistan.

Congenital hypothyroidism is a preventable cause of mental retardation. Since clinical signs of congenital hypothyroidism do not generally become obvious before three months of age, screening programmes have been introduced in North America and Europe, which consist of T4 or TSH screening on newborn infants on the third day of life. The screening for congenital hypothyroidism was initiated in Pakistan by the Aga Khan University Hospital (AKUH) in March 1987. By April 1988, 5000 neonates were screened and five cases of congenital hypothyroidism were diagnosed. The study revealed the incidence of hypothyroidism to be one case per 1000 newborns which is about 4 times more than that in the West.

Congenital Hypothyroidism↗
PubMed1998

Neonatal screening for the cystic fibrosis main mutation delta F508 in Estonia.

In this pilot study the frequency of delta F508 mutation carriers, their geographic distribution, and the prevalence of cystic fibrosis (CF) in Estonia were investigated. During the screening programme 7396 newborns were tested for delta F508 mutation and 88 were found to carry this deletion. The mean frequency of delta F508 mutation carriers in Estonia was thus estimated as 1 out of 84 live births. In eight separate districts of Estonia the heterozygote frequencies differed significantly (p = 0.0369), with the highest incidence (1:36) on the Baltic Sea islands and western coastal region and with the lowest in south eastern parts of Estonia.

Cystic Fibrosis↗
PubMed1986

Neonatal screening for biotinidase deficiency: results of a 1-year pilot study.

We screened 81,243 infants born in Virginia during the 1-year period beginning Jan. 24, 1984, for deficiency of the enzyme biotinidase. A simple colorimetric screening procedure was used to detect the presence or absence of biotinidase activity on the same blood-soaked filter paper cards that are currently used in most neonatal metabolic screening programs. Two newborn infants with biotinidase deficiency were identified during the 12-month pilot study. In addition, two affected siblings of one of the newborn infants were detected through secondary family screening. On the basis of these results, the disorder appears to be at least as frequent as several others for which newborn screening is currently conducted. There were no known false-negative test results, and only 0.09% false-positive results that necessitated requests for second blood samples. False-positive test results can be readily identified by the use of a quantitative assay, which can also be used to confirm the diagnosis and to detect heterozygous family members in the case of true positives. On the basis of currently recognized criteria, biotinidase deficiency should be considered for inclusion among the metabolic disorders for which screening is performed in the neonatal period.

Age Factors↗
PubMed1988

Neonatal screening for biotinidase deficiency in north eastern Italy.

Biotinidase deficiency satisfies all the criteria for incorporation into neonatal mass screening programmes for inborn errors of metabolism. We report our preliminary experiences with screening of 24,300 newborns during a 6 month-period when 1 infant with biotinidase deficiency was detected. On the basis of these results, this disorder appears to be as common as other well known metabolic disorders for which mass screening is available.

Amidohydrolases↗
PubMed1993

Neonatal screening.

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Congenital Hypothyroidism↗
PubMed1988

A neonatal screening approach to the detection of familial hypercholesterolaemia and family-based coronary prevention.

We measured by radial immunodiffusion apolipoprotein B (ApoB) as a genetic marker for familial hypercholesterolaemia in heel prick blood spot samples on filter paper routinely collected from 5000 3- to 5-day-old neonates for current screening programmes. Dried blood spot ApoB levels were distributed continuously and were 9% higher in female neonates than in males (0.246 +/- 0.085 versus 0.225 +/- 0.079 g/L of whole blood, mean +/- SD, p less than 0.0001). Neonates of birth weight under 2.5 kg had lower levels than the population mean in both sexes but levels did not change with birth weight within this range; in those with the birth weights greater than 2.5 kg levels increased with increasing birth weight. Sex and birth weight could account for 5.7% of the variability of ApoB. Levels had largely stabilized by day 3 of life. Of parents of neonates whose ApoB levels were among the top 2%, 45 families were available for study when the infants were aged 12.3 +/- 3.3 months. In 6 of these families there was a persisting elevation of ApoB both in the infants (levels greater than 0.7 g/L of whole blood) and in one parent who also had elevated ApoB and a lipid profile of familial hypercholesterolaemia phenotype, results indicating an ascertainment rate of between 1 in 365 and 1 in 830 of the screened population. These studies have defined the variables affecting neonatal ApoB levels and establish that neonatal screening for familial hypercholesterolaemia is feasible. Primary prevention of vascular disease in young families with the gene should be possible with this approach.

Coronary Disease↗