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 181 records · Page 10Linked to original sources

PubMed2000

[Does neonatal screening of cystic fibrosis affect outcome? Comparative study of two cohorts in Britanny and Loire-Atlantique with follow-up after ten years].

UNLABELLED: Neonatal screening for cystic fibrosis was started in Brittany in 1989 but not in the adjacent department of Loire-Atlantique. This study compares the outcome from the children of both populations nine years after the beginning of the screening. Those children were seen in different centers but with the same following guidelines. POPULATION AND METHODS: All children with cystic fibrosis born between 01/01/89 and 31/12/97 in Brittany and the Loire-Atlantique, excluding the meconium ileus, were compared for their initial characteristics and their outcome after nine years of follow-up. RESULTS: There was no significant difference between both populations for sex ratio, gestational age, birth biometry, percentage of homozygotes delta F508, and mean age of children. Age at diagnosis was lower in Brittany (37 vs 372 days, P < 10(-7)), as was the delay for starting pancreatic supplementation (1.5 vs 14.3 months, P < 10(-7)). Percentage of children hospitalized at least once was higher in Loire-Atlantique (84.4 vs 40.3%, P < 10(-4)). There was no significant difference for colonization with Pseudomonas aeruginosa. Z-scores for weight and height were better in Brittany, as were Shwachman's and Brasfield's scores. CONCLUSION: The homogeneity of both populations and their follow-up points out that even if the numbers of children are small and the study is retrospective, some benefits of neonatal screening appear, which are already found in other countries where it is partly practiced. This leads us recommend its general use in our populations, which should be associated with the follow-up of the screened children in cystic fibrosis centers to achieve the most of its benefits.

Adolescent↗

PubMed1992

Intellectual development at age 12 years of children with congenital hypothyroidism diagnosed by neonatal screening.

Twenty-seven patients with congenital hypothyroidism diagnosed by neonatal screening were examined at the age of 12 years. The 12 patients with severe hypothyroidism at diagnosis (thyroxine < 2 micrograms/dl (< 26 nmol/L), and area-of-the-knee epiphyses < 0.05 cm2 had a lower IQ than the 15 patients with less severe hypothyroidism (mean +/- SD, 89 +/- 17 vs 104 +/- 10; p < 0.007). Comparisons of patients and siblings confirm that this difference was due to the severity of hypothyroidism.

Child↗

PubMed2002

Hypothalamo-pituitary hypothyroidism detected by neonatal screening for congenital hypothyroidism using measurement of thyroid-stimulating hormone and thyroxine.

UNLABELLED: The optimal strategy in neonatal screening for congenital hypothyroidism is still a subject of controversy. In Kanagawa Prefecture in Japan, simultaneous thyroid-stimulating hormone (TSH) and T4/fT4 determination has been used, while the results of our program may provide valuable information. Cumulative findings were analysed to determine the type and frequency of thyroid disorders in infants detected by simultaneous TSH and T4/fT4 determination, and the TSH and T4/fT4 screening strategy was validated. A total of 1284130 neonates were screened between October 1979 and September 1997 and infants followed because of low T4/fT4 without elevated TSH (T4 < 51.5 nmol/L or fT4 < 9 pmol/L and TSH < 15 mU/L) were retrospectively analysed. The first survey was carried out within 6 mo of birth and the second in 1998; 258 infants were diagnosed with congenital hypothyroidism at the first medical evaluation, 15 of them with hypothalamo-pituitary hypothyroidism. However, in the second survey, only 8 children were confirmed as having hypothalamo-pituitary hypothyroidism, therefore the incidence detected by the present strategy was 1/160516. Of 8 children with hypothalamo-pituitary hypothyroidism, mental retardation was prevented in 3 owing to early treatment. CONCLUSIONS: Simultaneous measurement of TSH and T4/fT4 is a useful strategy for detecting hypothalamo-pituitary hypothyroidism, but more studies are needed to show the cost-benefits of using this strategy.

Congenital Hypothyroidism↗

PubMed2004

[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme].

In a trial running since October 2003 in the Dutch provinces of Friesland, Groningen, Drenthe and Overijssel neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency has been added to the regular newborn screening programme for phenylketonuria, congenital hypothyroidism and adrenogenital syndrome. One of the questions to be answered by this trial is the cause of the strong variation in clinical expression of the disorder. Underdiagnosing is an important factor in this phenomenon, as shown by the data of a family of which the case histories of the two oldest children were discussed in this journal in 1965. Both children died at a very young age. Recently, MCAD deficiency was diagnosed in the youngest child of this family, now a 34-year-old woman. This family history illustrates the variable clinical expression of MCAD deficiency, which can cause death but can also run a milder or even subclinical course. Moreover, this family history shows that the underdiagnosis of MCAD deficiency in deceased children may be a cause of the apparently limited clinical detection rate of this disease, for which a simple treatment consisting of life-style and dietary measures is available after diagnosis.

Acyl-CoA Dehydrogenases↗

PubMed2001

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency.

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 spots, and reviewed patients with high octanoylcarnitine concentrations at age 7-9 years. The high morbidity and mortality associated with the disorder, and the specificity of acylcarnitine analysis seen in our study support the introduction of screening for MCAD deficiency.

Acyl-CoA Dehydrogenase↗

PubMed2003

Neonatal screening in Hong Kong and Macau.

For the implementation of the neonatal screening program, the following factors have to be considered for the selection of conditions to be screened and evaluation of outcome. These include the factors pertaining to public health impact, availability and acceptability of the screening system, and other social issues involved in the implementation. In the context of Hong Kong, Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and Congenital Hypothyroidism (CHT) have been highlighted in the early 1980s for consideration. A territory wide program for screening these conditions was started in 1984. Since then, over 99% of all newborns in Hong Kong was screened. Of these, around 70% were delivered in public hospitals, and the remaining were from private hospitals. Pre-screening education was emphasized, and 95% of pregnant ladies received information about this screening program from the Maternity and Child Health Centers run by the Department of Health, Hong Kong. For those who were born in public hospitals, the incidence of CHT was 1 in 2404 (269/646,580), while that of G6PD deficiency was 4.5% in male newborns and 0.3% in female newborns. This paper highlights details of the screening program, including its outcome evaluation. In Macau, CHT screening has not been started. Instead, G6PD deficiency screening commenced in 1977 in one of the two major hospitals where most newborns are delivered. Methodology and results of this program are presented.

Congenital Hypothyroidism↗

PubMed1988

Psychomotor development of children with congenital hypothyroidism diagnosed by neonatal screening.

The psychomotor development in 68 children with congenital hypothyroidism diagnosed during the first two years of a nationwide neonatal screening programme in Sweden was assessed during their first three years of life. Replacement therapy with thyroxine was initiated at the age of 15 +/- 7 days (mean +/- SD). Griffiths tests were performed in 15 patients at the age of 18 months and in 51 patients at 30-47 months. Their developmental quotients did not differ from those of control children, indicating that the psychomotor development in the children with congenital hypothyroidism was normal. In earlier studies of Swedish children with congenital hypothyroidism, diagnosed clinically before the age of three and a half years, the psychomotor development was found to be impaired. In contrast, the patients diagnosed by neonatal screening and given early therapy displayed normal results in Griffiths tests. This indicates that the age at the start of treatment is an important determinant for the prognosis.

Child, Preschool↗

PubMed2001

Strategy linking several analytical methods of neonatal screening for sickle cell disease.

BACKGROUND: The French national programme for the neonatal screening of sickle cell disease (SCD) was set up in 1995. This screening is targeted at newborn infants at risk. Over 5 years, 115,480 newborn infants were tested from 80 maternity departments from the northern part of the Paris area. 250 Patients with SCD were identified--that is, one in 462 newborn infants tested. Carriers for a haemoglobin (Hb) variant are frequent (5.34%). Some uncommon Hb variants were also identified, which gave rise to pitfalls to the testing when associated with HbS: HbKorle-Bu, HbHope, HbBougardirey-Mali, and HbLadésirade (4% of SS-like profiles). OBJECTIVE: An effective screening strategy was developed to avoid these false positive and false negative responses. METHODS: Isoelectric focusing (IEF), the method of primary screening, is rapid and inexpensive. Cation exchange high performance liquid chromatography (CE-HPLC), which is automated, fast, and quantitative was selected as a secondary method. RESULTS: IEF diagnosed normal profiles in 89% of the tested samples from newborn infants. CE-HPLC identified most of the common Hb variants by their retention time and the measure of HbA/HbS ratio, important for the differential diagnosis between an asymptomatic HbS carrier and an HbS/beta+thal compound heterozygote. Furthermore, the high sensitivity of the CE-HPLC detected as little as 0.5% of a Hb variant. This avoided false negatives in samples from premature or transfused newborn infants. All samples with SS-like profiles were confirmed with a second CE-HPLC with another programme. A combination of these three methods confirmed the status of 99.7% of the samples from the tested newborn infants. Some cases required a reverse phase-HPLC method (for gamma-globin or alpha-globin chain variants). Finally, some exceptional samples required confirmation by testing DNA extracted with Güthrie paper for a precise diagnosis. CONCLUSIONS: This effective strategy combining several methods dramatically reduces the risk of errors. Many families are thus spared unnecessary worrying recalls. The only unavoidable cause of false positives remains the HbS/hereditary fetal Hb (HPFH).

Anemia, Sickle Cell↗

PubMed1994

Neonatal screening for phenylketonuria: evaluation of an automated enzymatic method.

An enzymatic assay for phenylalanine using phenylalanine dehydrogenase is available in kit form (Quantase) for use with dried blood spot specimens and microtitre plates. The method has been automated by use of a sample processor and its performance and suitability for neonatal screening for phenylketonuria has been evaluated by comparison with the Guthrie bacteriological inhibition assay. The enzymatic method performed well with regard to precision and accuracy. It was able to differentiate between normal and raised phenylalanine concentrations for the purpose of screening, thus greatly reducing the repeat rate for equivocal results. There were, however, some concerns about its robustness for screening and its detection limit. The Quantase assay has the potential to be used as a large-scale routine neonatal screening method, if its use can be shown to be cost-effective.

Amino Acid Oxidoreductases↗

PubMed1999

Pilot neonatal screening program for lysosomal storage disorders, using lamp-1.

We have demonstrated that the lysosome associated membrane protein (LAMP-1) is elevated in plasma from approximately 70% of lysosomal storage disorder patients. As part of the development of a newborn screening program for lysosomal storage disorders we have developed a first tier screening assay based upon the level of LAMP-I in blood spots taken from newborn Guthrie cards. To determine the effectiveness of the first-tier marker a prospective pilot Guthrie neonatal screening program for the identification of LSD was commenced in April 1998. Prior to commencement of the pilot program ethical approval was obtained and information leaflets regarding the neonatal screening of LSD were distributed to parents at the time of their infant's Guthrie collection. The LAMP-1 assay utilizes a chicken polyclonal and a mouse monoclonal in a sandwich time resolved fluorescent immunoassay. LAMP-1 blood-spot calibrators and quality control specimens were developed and shown to be stable and reproducible. To date 11,183 infants have been screened using LAMP-1. The population distribution is described with a median and 98th percentile of 220pg/l whole blood and 483microg/l whole blood respectively. Acceptable CV% for intra and inter assay of 8.9% and 10% respectively were obtained.

Antigens, CD↗

PubMed2006

Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications.

BACKGROUND: A closed breeding colony of Shiba dogs with GM1-gangliosidosis is maintained at Hokkaido University (Sapporo, Japan). Neonatal genotyping is essential to control the breeding colony genetically as an animal model for the human disease. OBJECTIVES: The purpose of the present study was to determine the utility of amnion and placenta in the neonatal screening or diagnosis for canine GM1-gangliosidosis. METHODS: Twenty neonatal Shiba dogs of a pedigree with GM1- gangliosidosis were differentiated into 3 genotypes--normal, heterozygous, and affected dogs--by using a previously reported DNA mutation assay. Acid beta-galactosidase activity was measured in amnion and placenta and compared among the 3 genotypes. RESULTS: The level of beta-galactosidase activity in the amnion of affected dogs was negligible and <2% of the mean activity in normal dogs; there was no significant difference among the 3 genotypes. In placenta, beta-galactosidase activity was significantly different among all the genotypes; however, there was wide overlap in enzyme activity between normal and heterozygous dogs. The level of activity in affected dogs was relatively high and >10% of the mean activity in normal dogs. The DNA mutation assay gave correct information about genotype with genomic DNA extracted from amnion but ambiguous information with DNA from placenta. CONCLUSIONS: Amnion and placenta were not useful as enzyme sources in neonatal screening in canine GM1-gangliosidosis because of the risk of misdiagnosis. DNA from amnion is applicable as a template for genotyping, whereas placenta should not be used because canine placenta contains maternal cells.

Amnion↗

PubMed1998

Obstacles to timely neonatal screening in North Thames.

OBJECTIVE: To assess the timeliness of neonatal (Guthrie card) screening in North Thames, and to identify the most effective ways of improving it. DESIGN: Analysis of information routinely collected in the course of neonatal screening; reanalysis of published data on blood phenylalanine concentration in phenylketonuria (PKU) over the first two weeks; simulation studies on the impact of different interventions. SUBJECTS: 100,690 infants born over one year and screened at Great Ormond Street Hospital NHS Trust. OUTCOME MEASURE: Interval between birth and reading PKU screen results. RESULTS: Although 75% of samples (district range 55-91%) were collected by day 7, only 81% had arrived in the laboratory seven days later (range 57-96%). The average interval between birth and reading results was 14.5 days, with only 9.7% read by day 10. Samples could be collected from day 4 without significant impact on false negative rates for PKU. If samples were collected from day 4 and posted promptly (second class), the average interval between birth and reading results could be reduced to 9.3 days. If first class mail were used and the laboratory operated on Saturdays, and used assays that could be read the same day rather than bacterial inhibition assays, the average would be 7.8 days, with 96% read by day 10. CONCLUSION: Timeliness of neonatal screening shows unacceptable variation between districts, and delays in dispatch of specimens to the laboratory. Same day, first class posting should be introduced, and samples could be collected between days 4 and 8.

Blood Specimen Collection↗

PubMedDate not supplied

Economic evaluation of neonatal screening for congenital dislocation of the hip.

A study was undertaken to determine the cost benefit of neonatal screening for dislocatable and subluxable hips. As a follow-up to retrospective and prospective studies that established the safety and efficacy of early treatment to the newborn, this study discusses the direct and significant economic benefit of a neonatal hip screening program to the participating institutions. British Columbia's Grace and Children's Hospitals experienced an economic benefit of $15,143.71 (Canadian) per 1,000 infants screened.

Canada↗

PubMed2005

Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening.

CONTEXT: Long-term follow-up data on cognitive and motor functioning in adult patients with congenital hypothyroidism, diagnosed by neonatal screening, are scarce. Hence, it is still unclear whether the frequently reported cognitive and motor deficits observed during childhood persist in adulthood. OBJECTIVE: The objective of this study was to examine cognitive and motor functioning in young adults with congenital hypothyroidism, born in the first 2 yr after the introduction of the Dutch neonatal screening program. DESIGN/SETTING/PATIENTS: Seventy patients were tested (mean age, 21.5 yr); 49 of them were previously tested at 9.5 yr. The median age at the start of treatment was 28 d (range, 4-293 d). Congenital hypothyroidism was classified as severe, moderate, or mild, according to pretreatment T(4) concentrations. MAIN OUTCOME MEASUREMENT: The main outcome measurement was the influence of the severity of congenital hypothyroidism and age at which T(4) supplementation was started on cognitive and motor outcome. RESULTS: Patients, particularly those with severe congenital hypothyroidism, had significantly higher (i.e. worse) motor scores (total score, 7.8; ball skills, 2.0; balance, 4.1) compared with controls (total score, 3.2; ball skills, 0.7; balance, 1.1), and lower full-scale (95.8), verbal (96.4), and performance (95.6) intelligence quotient (IQ) scores than the normal population. No significant change in IQ from childhood to adulthood was found, and for the majority of patients, motor score classification remained the same. The severity of congenital hypothyroidism, but not the starting day of treatment, was correlated with IQ and motor scores. CONCLUSIONS: It is concluded that the severity of congenital hypothyroidism, but not the timing of treatment initiation, is an important factor determining long-term cognitive and motor outcome. Clearly, detrimental effects on developmental outcome in patients with congenital hypothyroidism persist over time.

Adult↗

PubMed2003

Long-term outcome of patients with urea cycle disorders and the question of neonatal screening.

UNLABELLED: With regard to the principles established for neonatal population screening, the question arises whether for patients with urea cycle disorders there is an accepted treatment which really affects the disease course and prognosis as compared to the natural history of these diseases. A retrospective study of 88 patients was performed. Based on questionnaires, the survival rate and neurodevelopmental outcome of patients treated with protein restriction alone was compared to the new therapy introduced in the 1980s with added citrulline/arginine, essential amino acids for improving the amino acid composition of the restricted natural protein and benzoate. Survival of patients with neonatal presentation was improved by the extensive therapy but this mostly at the cost of an increasing number of retarded patients. Long-term outcome did not differ significantly between the two treatments. Of all patients, 56% were symptomatic within 4 days of age and 67% within the 1st week. Thus a prevention of irreversible damage by neonatal screening on blood obtained at 3-4 days of life is questionable. Whether the benefit of obtaining a rapid diagnosis, e.g. for allowing proper counselling and prospective treatment, is acceptable for the parents of prospective patients remains open. The organisation of a dense network of specialised metabolic centres with sufficient staff and resources is a prior condition for any screening programme in order to ensure the rapid diagnosis, follow-up of treatment and counselling of a cumulative number of affected chronic patients needing this support. A commitment on a long-term basis by the institutions is needed in view of the health budget restrictions. CONCLUSION: in the short term, the goal is to detect hyperammonaemic patients as early as possible with special emphasis on sick neonates. In practice, quantitative plasma ammonia determination without delay is recommended in any newborn for whom a sepsis work-up is considered and in children who refuse feeding or vomit and show alterations of consciousness and/or neurological symptoms.

Amino Acid Metabolism, Inborn Errors↗

PubMed2005

Neonatal screening for congenital hypothyroidism in West Black Sea area, Turkey.

The aim of this study was to investigate the incidence of congenital hypothyroidism (CH) in the West Black Sea Area, a mild-to-moderate iodine deficient area in Turkey. Neonatal screening for CH was performed using blood specimens collected onto filter paper. Thyrotropin [thyroid-stimulating hormone (TSH)] was measured by radioimmunoassay, and a value >20 microU/ml was considered as cut-off point for re-examining. Venous serum was obtained to measure TSH, thyroxin (T4), free T4 (FT4) and thyroglobulin (TG). To determine the iodine status of the study area, median urinary iodine was measured in 212 randomly selected neonates and their mothers. A total of 18606 neonates were screened from three cities (Bolu, Düzce, and Zonguldak) between 2000 and 2002. With a cut-off point of TSH value >20 microU/ml, the recall rate was found 1.6%. Eight cases of CH were diagnosed (incidence 1/2326). There were three cases of transient hypothyroidism, with an incidence of 1/6202. Twenty-six percent of the TSH values was greater than 5 microU/ml. Median urinary iodine concentrations in neonates and their mothers were 85 microg/l and 40 microg/l, respectively. The incidences of CH, transient hypothyroidism and the recall rate were higher in our study area than many countries in Europe. The study area has been affected by mild-to-moderate iodine deficiency. Neonatal screening for CH should be introduced in Turkey without delay. A national comprehensive infantile hypothyroidism and iodine prophylaxis policies should be developed.

Child, Preschool↗

PubMed2001

Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study.

BACKGROUND: Classic galactosemia (OMIM 230400) is an inherited disorder in the metabolism of galactose caused by deficiency of the enzyme galactose 1-phosphate uridyl transferase (EC 2.7.7.12). Galactosemia leads to accumulation of galactose and galactose 1-phosphate (gal-1-P) in blood and tissues and, if untreated, produces neonatal death or severe mental retardation, cirrhosis of the liver, and cataracts. Hence, the disorder is included in many neonatal screening programs. METHODS: We retrospectively analyzed filter-paper blood samples obtained 4-8 days postpartum for routine neonatal screening from 12 galactosemia patients and 2055 random controls. Total hexose monophosphates (HMPs) were used as a marker of gal-1-P and were assayed by negative-ion mode electrospray tandem mass spectrometry (tandem MS) with settings biased toward gal-1-P detection. The predominant precursor/product ion pair m/z 259/79 was used to quantify total HMPs by external standardization. RESULTS: Linear calibration curves were obtained in the range 0-8 mmol/L gal-1-P. The detection limit was 0.1 mmol/L HMP, and total CVs ranged from 13% at the detection limit to <8% at >1 mmol/L HMP. The method was in agreement with an alkaline phosphatase-galactose dehydrogenase method. All samples from galactosemia patients contained increased HMP concentrations (range for patients, 2.6-5.2 mmol/L; range for reference group, <0.10-0.94 mmol/L). The diagnostic sensitivity and specificity were 100% at a cutoff of 1.2 mmol/L HMP. A Duarte/classic galactosemia compound heterozygous sample could be discriminated clearly from both patient and reference samples. CONCLUSION: Quantitative analysis of HMPs by tandem MS can be used in laboratory investigations of galactosemia.

Alkaline Phosphatase↗

PubMedDate not supplied

[Neonatal screening for cystic fibrosis].

Cystic fibrosis (C.F.), a congenital lethal disease involving many organs, is responsible of chronic pulmonary disease and maldigestion. At the beginning symptoms can be feeble and diagnosis is often delayed, especially in those cases with an isolated pulmonary expression. It is demonstrated that early diagnosis and immediate prophylaxis of pulmonary infections and maldigestion improves survival. Thus a neonatal screening test is required. Although various attempts have been done, dating from 1968, there is no evidence, up to now, of a real utility of neonatal screening tests in C.F. The only test with a minor frequency of false negatives and positives is the RIA trypsin serum dosage to be executed within 3-5 days of life.

Cystic Fibrosis↗