SEARCH · PubMed Health

Results for “Neonatal Screening”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 163 records · Page 9Linked to original sources

PubMed1999

[Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996].

AIM: The results of the neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by 17-hydroxyprogesterone measurement from blood spot on blotting-paper in 408,138 newborns in the French Nord-Pas-de-Calais region from 1980 to 1996 are reported. METHODS: This measurement successively used a tracer tritium labelled (RIA H3), 125 iodine (RIA I125), then immunofluorometric method (Delfia). From 1992, sampling was systematically performed at the third day of life. RESULTS: Thirty-three cases were detected and confirmed (20 boys and 13 girls). Diagnosis was made before recalling on a clinical basis in three boys and eight girls. In 22 cases (17 boys and five girls) when diagnosis was not made before recalling, it could have been suspected in three girls because of a sex ambiguity once associated with dehydration and in eight boys because of failure to thrive (six times) or a marked dehydration (twice). Lack of sex ambiguity in two girls characterized non classical form of the illness. These two patients benefited from the early detection of the illness on growth data. Out of 49 subjects who died before recall, three could be suspected of bearing 21-hydroxylase deficiency. One single false negative case was found, which led to decrease cut-off value. On the other hand, false positive cases were frequent (0.37%), mainly in premature newborns (88% of cases). CONCLUSION: Although decrease of median age for recall at 7 days did not prevent the occurrence of two cases of dehydration, neonatal screening of 21-hydroxylase deficiency appears to be efficient, as far as diagnostic strategy is considered.

17-alpha-Hydroxyprogesterone↗

PubMed2003

Quality assurance program for neonatal screening of glucose-6-phosphate dehydrogenase deficiency.

The nationwide neonatal screening of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Taiwan was started on July 1, 1987. The effective collection rate has reached more than 96% of all newborns since 1993 and the overall incidence rate of G6PD deficiency was about 2%. This screening program has 3 screening centers and 18 referral hospitals, distributed around Taiwan including outlying islands. To assess the reliability of the confirmatory and screening tests, an external quality assurance (QA) program for G6PD assay was developed. For quantitative assay of G6PD activity, lyophilized quality control materials with different G6PD activities were prepared from red blood cells. For G6PD screening, quality control materials with different G6PD activities were prepared from whole blood and spotted onto the blood collecting filter paper. Periodically (1-2 months), the QC materials were sent to each of the referral hospitals and screening centers by speed post delivery. The external QA results were evaluated and compared to the median of all the reports and the reference values determined by our laboratory. Whenever an analytical system error was detected in any participating laboratory, troubleshooting was carried out either by contacting by phone or visiting in person. Twenty-one referral laboratories and 8 screening centers (3 in Taiwan, 2 in Mainland China, and one each in the Philippines, Thailand and Lebanon) participated in the QA program. Three to 5 QC specimens were sent to every participating referral laboratory for each quantitative survey. From January 1988 to June 2001, 104 QA surveys were carried out and 1,891 reports were received. Two hundred and thirty-nine (12.6%, 239/1,891) QA reports had abnormal results, attributed to clerical (13%, 31/239), experimental (17.2%, 41/239), and instrumental errors (46.4%, 111/239). Most of the experimental and instrumental errors were found in those laboratories that did not execute internal QA properly. For the screening QA program, 10 QC blood spots were delivered to every participating screening center for each survey. From March 1999 to June 2001, 15 screening surveys were performed with 111 reports received. One false negative (1/1,110) and 14 (14/1,110) false positive results were found in four (3.6%, 4/111) of the screening QA reports. The external quality assurance program proved useful for monitoring the performance of G6PD tests in referral hospitals and screening centers, and provided guidance for correcting analytical errors.

Blood Specimen Collection↗

PubMed1985

[Problems of neonatal screening for hypothyroidism in the very low birth-weight neonate].

21,013 newborns were screened on the first year of a neonatal screening program on congenital hypothyroidism in the Basque Community. The evaluation of the results showed some points of interest. One of them, would be the high analytical retesting rate needed in the screening of very low-birth weight children. The rate decreased with increasing birth-weight. Forty per cent of the children with a birth-weight lower than 1,000 gr needed retesting. The rate decreased to 7.7% at birth-weights between 1,001 and 1,500 gr, to 2% at birth weights between 1,501 and 2,500 gr and only to 0,42% at birth-weights higher than 2,501 gr. The consequences of these results are discussed.

Congenital Hypothyroidism↗

PubMed2007

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the disorder thought most to justify neonatal screening by tandem-mass spectrometry because, without screening, there seems to be substantial morbidity and mortality. Our aim was to assess the overall effectiveness of neonatal screening for MCAD deficiency in Australia. METHODS: We identified MCAD-deficient patients from a total population of 2,495,000 Australian neonates (810,000 screened) born between April 1, 1994, and March 31, 2004. Those from a cohort of 1,995,000 (460,000 screened) were followed up for at least 4 years, and we recorded number of deaths and severe episodes, medical and neuropsychological outcome, and hospital admissions within the screened and unscreened groups. FINDINGS: In cohorts aged at least 4 years there were 35 MCAD-deficient patients in those not screened (2.28 per 100,000 total population) and 24 in the screened population (5.2 per 100,000). We estimated that patients with this disorder in the unscreened cohort remained undiagnosed. Before 4 years of age, three screened patients had an episode of severe decompensation (including one neonatal death) versus 23 unscreened patients (including five deaths). At the most conservative estimate, relative risk of an adverse event was 0.44 (95% CI 0.13-1.45). In the larger cohort the relative risk (screened vs unscreened) of an adverse event by age 2 years was 0.26 (95% CI 0.07-0.97), also a conservative estimate. 38 of 52 living patients had neuropsychological testing, with no suggestions of significant differences in general cognitive outcome between the groups. INTERPRETATION: Screening is effective in patients with MCAD deficiency since early diagnosis reduces deaths and severe adverse events in children up to the age of 4 years.

Acyl-CoA Dehydrogenase↗

PubMed2006

Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.

OBJECTIVE: Neonatal screening programs for very long-chain acyl-coenzyme A dehydrogenase deficiency have been implemented recently in various countries. Mildly elevated C14:1-carnitine on day 3 of life strongly suggests very long-chain acyl-coenzyme A dehydrogenase deficiency. DESIGN: We characterized 11 neonates with elevated C14:1-carnitine by enzyme and molecular analyses. Palmitoyl-coenzyme A oxidation was measured in lymphocytes. Sequencing of all 20 exons of the VLCAD gene was performed from genomic DNA. RESULTS: Palmitoyl-coenzyme A oxidation revealed significantly decreased residual activities consistent with very long-chain acyl-coenzyme A dehydrogenase deficiency in 7 neonates. In 2 individuals, residual activities of 48% and 44%, respectively, suggested heterozygosity. Two disease-causing mutations were detected in 6 of 7 neonates with very long-chain acyl-coenzyme A dehydrogenase deficiency; in the remaining 1 patient, only 1 mutation was identified. Of 2 individuals with residual activities consistent with heterozygosity, 1 was heterozygous for a VLCAD mutation. The other child and both individuals with normal palmitoyl-coenzyme A oxidation had normal genotypes. CONCLUSIONS: In 4 of 11 neonates identified with elevated C14:1-carnitine, very long-chain acyl-coenzyme A dehydrogenase deficiency was excluded. A C14:1-carnitine level > 1 micromol/L strongly suggests very long-chain acyl-coenzyme A dehydrogenase deficiency, whereas concentrations < or = 1 micromol/L do not allow a clear discrimination among affected patients, carriers, and healthy individuals. Further diagnostic evaluation, including enzyme and molecular analyses, is essential to identify very long-chain acyl-coenzyme A dehydrogenase deficiency correctly.

Acyl-CoA Dehydrogenase, Long-Chain↗

PubMed1996

Outcomes of neonatal screening for hearing loss by otoacoustic emission.

AIM: To assess universal neonatal screening for bilateral hearing impairments averaging 40 dBHL or worse in the better ear, using transient evoked otoacoustic emission screening (TEOAE) testing. METHODS: A three year cohort (14,353 infants born from January 1992 to 1995) was screened and subsequently followed up by hearing surveillance methods, including a distraction test screen from 7 months of age. The entire cohort was used to evaluate the outcome of the screen. A subcohort of 8172 district residents was used to evaluate the continuing worth of the distraction test programme. RESULTS: Nineteen infants (1.3/1000) with a targeted hearing impairment failed the neonatal TEOAE test. Six profoundly deaf infants identified by the TEOAE screen, were fitted with hearing aids at a median age of 16 weeks. One remained without an aid. Of 12 infants with a moderate impairment, only seven accepted hearing aid fitting and the median age of being fitted with an aid increased to 42 weeks. By the time of the analysis 22 children with a targeted hearing impairment (1.5/1000) had been identified from the cohort. Of the three missed neonatally, one was cared for elsewhere, another had a progressive loss, and the third had central deafness. Twenty children were ascertained with a congenital peripheral deafness. Of these, eight (40%) had risk factors identifiable neonatally. Only the child with central deafness was missed by TEOAE screening and subsequently identified by behavioural tests in infancy. The TEOAE screen outperformed the distraction test in terms of processes and yield and was 25% less expensive. CONCLUSIONS: The analysis confirmed the worth within the district of the TEOAE hearing screen. It will thus be continued as a universal neonatal screen with the distraction test being retained as a selective screen in the latter half of infancy.

Child, Preschool↗

PubMed2003

Lower neonatal screening thyroxine concentrations in down syndrome newborns.

There is an unexplained higher incidence of congenital hypothyroidism (CH) detected by T(4)-based neonatal screening programs and a very high prevalence of (mild) plasma TSH elevation in young children with Down syndrome (DS). To determine whether newborns with DS have decreased blood T(4) concentrations at the time of the neonatal screening, we conducted an observational study in a large and representative cohort of Dutch children with DS born in 1996 and 1997. CH screening results (T(4), TSH, and T(4)-binding globulin concentrations) were analyzed in comparison with clinical information obtained by interviewing the parents and data from the general newborn population and a large control group. The mean T(4) concentration of the studied children with DS (n = 284) was significantly decreased. The individual T(4) concentrations were normally (Gaussian) distributed but shifted to lower concentrations. This could not be explained by prematurity, nonthyroidal illness, or iodine exposure. Mean TSH and T(4)-binding globulin concentrations were significantly increased and normal, respectively. The decreased T(4) concentration, left-shifted normal distribution, and mildly elevated TSH concentrations point to a mild hypothyroid state in newborns with DS and support the existence of a DS-specific thyroid (regulation) disorder. The question remains whether this contributes to the brain maldevelopment.

Cohort Studies↗

PubMed1991

Current issues in neonatal screening for cystic fibrosis and implications of the CF gene discovery.

Many questions remain regarding the efficacy, toxicity, and costs of CF neonatal screening. It would be premature, in our opinion, to implement mass population screening of newborns for CF until the benefits and risks have been fully defined, and an adequate and logistically feasible testing system developed and/or highly effective therapy for CF lung disease becomes available. In addition, the ethical issues described herein need to be resolved. This pertains not only to the CF patient but also the heterozygote carrier. These reservations notwithstanding, the discovery of the CF gene should have a favorable impact both directly and indirectly on neonatal screening for the disease. Mutation analysis coupled to IRT testing seems most attractive at this time, at least on a research basis, but primary molecular diagnostic procedures might supervene in the future, particularly if they are financially feasible.

Chromosome Mapping↗

PubMed1987

Neonatal screening for metabolic and endocrine disorders.

The impact of metabolic diseases (inborn errors of metabolism) and endocrine disorders in pediatrics has markedly increased during the last few decades. Critical periods in the development of the central nervous system need special attention in children with these disorders. Early diagnosis and treatment are important in order to prevent mental retardation and serious handicaps in some of these patients. Certain patients with metabolic and endocrine disorders lack early clinical symptoms or have so non-specific signs that permanent neurological handicaps are present when the patients are finally diagnosed. One way to identify these patients is by means of mass screening. A blood sample is then collected from every newborn infant and analyzed for abnormal levels of metabolites or hormones. It is possible to detect at least thirty different disorders in this way. In most European countries screening programmes involve phenylketonuria (PKU) and congenital hypothyroidism. The prognosis for these patients has improved dramatically after the introduction of screening. The Swedish neonatal metabolic screening programme was started in 1965 by screening for PKU. Subsequently, screening for galactosemia and congenital hypothyroidism was added. The result of the screening programme 1965-1985 is as follows: (table; see text) The main benefit of early detection and treatment of children with PKU, congenital hypothyroidism and galactosemia is the prevention of mental retardation and other handicaps. Recently nationwide pilot screening for congenital adrenal hyperplasia (adrenogenital syndrome) was started.

Endocrine System Diseases↗

PubMed1998

False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.

We report on two siblings with classic simple virilizing 21-hydroxylase deficiency whose neonatal screening for serum 17alpha-hydroxyprogesterone (17-OHP) gave normal results. The proband, a girl with clitoromegaly whose screening 17-OHP value had been 9.2 ng/ml, was diagnosed at the age of 6 months, and her elder brother with the initial screening level of 15.7 ng/ml was diagnosed at the age of 6 years due to precocious puberty. Although the occurrence of false-negative cases is extremely rare, it can happen in a simple virilizing form of 21-hydroxylase deficiency. This experience informs that normal results for neonatal screening cannot be an excuse for not evaluating siblings of the proband with congenital adrenal hyperplasia.

Adrenal Hyperplasia, Congenital↗

PubMed1993

Hemoglobin D Ibadan-beta zero thalassemia: detection by neonatal screening and confirmation by electrospray-ionization mass spectrometry.

We describe an infant with hemoglobin D Ibadan-beta zero thalassemia whose hemoglobinopathy was initially detected by neonatal screening. This previously undescribed condition was confirmed by family studies and by globin chain analysis by mass spectrometric techniques. The case illustrates the importance to neonatal screening programs of confirmatory testing and of linkage with reference laboratories capable of globin chain analysis. Hematologic studies at 36 months of age suggested that the presence of hemoglobin D Ibadan had no deleterious effect on this child with heterozygous beta zero thalassemia.

Globins↗

PubMedDate not supplied

Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests.

PURPOSE: Although neonatal screening (or newborn screening) for cystic fibrosis (CF) is commonly practiced, systematic methods for accurate risk calculations are currently lacking. METHODS AND RESULTS: We evaluated characteristics of the immunoreactive trypsinogen (IRT) test using the published data. The probability that a neonate has a positive IRT test, if the neonate is affected, a carrier, or a noncarrier, is approximately 1, 0.041, or 0.011, respectively. We provide methods to calculate genetic risks for a variety of commonly encountered scenarios in which neonates are positive by the IRT test. CONCLUSION: Our Bayesian methods permit CF disease probabilities to be calculated accurately, taking into account all relevant information.

Bayes Theorem↗

PubMed2006

The national neonatal screening programme for congenital toxoplasmosis in Denmark: results from the initial four years, 1999-2002.

AIMS: To describe the outcome of four years' nationwide neonatal screening for congenital toxoplasmosis in liveborn newborns. METHODS: Congenital toxoplasmosis was diagnosed if specific Toxoplasma gondii IgM antibodies were detected in eluate from the PKU Guthrie filter paper card from a child. Infants diagnosed with congenital toxoplasmosis were examined for intracranial and retinal lesions and treated for three months with sulphadiazine, pyrimethamine, and folinic acid continuously. RESULTS: Eluates from PKU-cards from 262 912 newborns were analysed. The birth prevalence of congenital toxoplasma infection was 2.1 per 10 000 liveborns. Congenital toxoplasmosis was suspected in 96 infants and confirmed in 55. Forty seven children were examined for intracranial and retinal lesions soon after birth; 12 had clinical signs at this first examination. Of these, 5 had intracranial calcifications, 2 had retinochoroidal lesions, 4 had intracranial calcifications and retinochoroidal lesions, and 1 had hydrocephalus, intracranial calcifications, and retinochoroidal lesions. Ninety four eyes were examined soon after birth; there were central retinochoroidal lesions in 9. Two children had macular lesion of both eyes, five had macular lesions of one eye. At 1 year of age, 10/68 eyes had central lesions, and at 3 years of age, 5/32 had central lesions. Thus new retinochoroidal lesions developed in three eyes in the observation period. CONCLUSIONS: Neonatal screening is feasible for diagnosing children with congenital toxoplasmosis at birth in low endemic areas. Retinochoroiditis with macular lesion was diagnosed in 9.6% of the eyes at birth and in 15.6% of the eyes examined at 3 years of age.

Algorithms↗

PubMed2005

[The advisory report 'Neonatal screening' from the Health Council of The Netherlands].

The Health Council of the Netherlands has published an advisory report on neonatal screening in view of developments in diagnostics, therapy and the prevalence of neonatal diseases. Currently it involves screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia. Because screening may lead to considerably better outcomes in affected newborns, the council recommends expanding current screening to include medium-chain acyl-CoA dehydrogenase deficiency, sickle-cell disease and 12 other rare disorders: biotinidase deficiency, galactosaemia, glutaricaciduria type I, HMG-CoA lyase deficiency, holocarboxylase-synthetase deficiency, homocystinuria, isovaleric-acidaemia, long-chain hydroxyacyl-CoA dehydrogenase deficiency, maple syrup urine disease, 3-methylcrotonyl-CoA carboxylase deficiency, tyrosinaemia I and very-long-chain acyl-CoA dehydrogenase deficiency. A better detection method for cystic fibrosis must be developed before it is included in screening to restrict the number of sweat-test referrals of unaffected newborns. The council recommends providing information on neonatal screening during pregnancy and gives special attention to the possibility of detecting carriership in the parents.

Humans↗

PubMed1998

Evaluation of highly sensitive thyrotropin assay for detecting thyroid diseases in neonatal screening: preliminary studies.

TSH concentrations in dried blood samples on filter paper were determined by a conventional enzyme-linked immunosorbent assay (ELISA), used for routine neonatal screening for primary hypothyroidism, and a highly sensitive bioluminescence ELISA (BL-ELISA) using firefly luciferase to examine whether central hypothyroidism and hyperthyroidism can be efficiently detected as cases of primary hypothyroidism. Samples were obtained from 3 patients with congenital central hypothyroidism, 5 patients with congenital primary hypothyroidism, 6 patients with hyperthyroidism, 31 neonatal babies with low birth weight (premature babies) and 242 newborn babies with normal birth weight from the general population (normal babies). The TSH values were low in central hypothyroidism and hyperthyroidism. Their deviations from the mean TSH value for normal babies by the BL-ELISA method (-3.12 SD and -4.79 SD in central hypothyroidism and hyperthyroidism respectively) were greater than those by the ELISA method (-2.00 SD and -2.97 SD respectively). The TSH values were high in primary hypothyroidism and normal in premature babies while deviations were the same when BL-ELISA and ELISA were used. These findings indicate that the highly sensitive TSH assay (BL-ELISA) can be used for detecting both primary and central hypothyroidism as well as hyperthyroidism in neonatal screening.

Adult↗

PubMed2006

[Evaluation of coverage by a neonatal screening program for hemoglobinopathies in the Recôncavo region of Bahia, Brazil].

In 2001, government ruling n. MS 822/01 by the Brazilian Ministry of Health made neonatal screening mandatory for hemoglobinopathies, with special focus on sickle cell disease, the most common hemoglobinopathy in Brazil. Bahia is the State of Brazil with the highest prevalence of this disease. The current paper reports on the prevalence of hemoglobin variants HbS and HbC, which cause sickle cell disease, in the cities of Cachoeira, Maragogipe, and São Félix, Bahia State. The overall proportion of carriers for the two forms of hemoglobin was 13%. From 2001 to 2003, the neonatal screening rate decreased from 82.6% to 46.4% in Cachoeira and increased from 37.0% to 56.2% in Maragogipe. Thus, only about one-half of children are being tested in these cities. The findings show that the public health care system in these cities is poorly prepared to screen for sickle cell disease in newborns and that there was a lack of health care personnel to follow up on newly diagnosed sickle cell patients or carriers of the sickle cell trait.

Adolescent↗

PubMed1998

Neonatal screening: current trends and quality control in the United Kingdom.

Neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CHT) is universal across the UK using heel prick blood collected at 6-14 days of age. Additional programmes for sickle cell disorders, cystic fibrosis, Duchenne muscular dystrophy and galactosaemia are provided in some areas. The number of inherited metabolic disorders (IMDs) has greatly increased since the introduction of PKU screening, and there have been major advances in treatment, e.g. organ transplantation, drug therapy. Recent developments in technology have expanded the possibilities for screening using the heel prick blood specimen, particularly the application of tandem mass spectrometry. There is a case for introducing tandem mass spectrometry, limited to clearly defined diseases where specificity is adequate and there are satisfactory diagnostic tests. Any change in newborn screening to a much broader group of disorders must be carefully introduced and monitored preferably as a pilot study. A key component of a laboratory screening service is quality control. There are well established UK programmes for PKU and CHT. Consideration of the needs for other disorders is now an important priority.

Congenital Hypothyroidism↗

PubMed2005

Neonatal screening for congenital hypothyroidism in Hessen, Germany: efficiency of the screening program and school achievement of 129 children at an age of 8-12 years.

Status and school achievement of 129 children born in Hessen between 1988 and 1992 and notified by a repeatedly elevated concentration of TSH in neonatal screening were evaluated. Interviews of mothers, teachers and pediatricians were used to score the development and educational achievements, respectively. A total of 298,175 newborns were screened and the incidence of permanent congenital hypothyroidism (PCH) was 1: 3,313 (n = 90). The female/male ratio was 1.37:1. In the 69 PCH cases with complete data, athyreosis (52%), hypoplasia (32%), dyshormogenesis (9%) and ectopia (7%) were identified as etiologies. The mean age at start of therapy decreases from day 15 in 1988 to day 9 in 1992; however, 27% of PCH children showed reduced psychomotor development as scored by their pediatrician and 11% attended a special school for educationally subnormal children. Approximately 25% of the children had lower educational achievements irrespective of the school type. Our finding of a relatively high percentage of PCH children with subnormal development points to a failure in disease management. A follow-up program including repeated serum TSH monitoring and yearly examinations by pediatric endocrinologists and supervision by the regional screening center is necessary to ensure the long-term efficacy of neonatal screening for congenital hypothyroidism.

Child↗