PubMed Health⌕ Search

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 127 records · Page 7Linked to original sources
PubMed1999

Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening.

In recent years, tandem mass spectrometry has generated great interest as a method for neonatal screening. The basic principle is electronically controlled separation of analytes by their mass-to-charge ratio. The advantage of this detection system is speed, the capability to analyze for many different compounds in a single analysis, and a minimal need for auxilliary assay reagents. The prevailing screening technique uses stable isotope dilution, butylesterification, and MS/MS analysis to quantify amino acids and acylcamitines in neonatal dried blood spot samples. This allows detection of more than 30 inborn errors of metabolism of amino acids, fatty acids, and other organic acids. In Denmark, a large-scale pilot study is being implemented to evaluate the screening potential of tandem mass spectrometry. National patient registers and medical records from clinical genetics units are used to identify cohorts of healthy infants and infants with selected inborn errors of metabolism. The neonatal screening samples of these infants are retrieved from a biobank and are assayed for amino acids and acylcarnitines using tandem mass spectrometry. This study yields decision values for neonatal screening, which will be evaluated in a subsequent 2-year prospective pilot study, offering the test to 140,000 neonates as a voluntary adjunct to the existing screening program. The organization consists of integrated units for neonatal screening and clinical genetics. The effect of the program will be assessed in terms of screening efficiency, cost and short term clinical outcome.

Amino Acids↗
PubMed1981

[Neonatal screening for hypothyroidism in the Federal Republic of Germany (author's transl)].

Screening for neonatal hypothyroidism was introduced in 1979 in nearly all West German provinces on a regional basis as an additional preventive investigation. In February 1980 provincial control was replaced by uniform financing of screening for the whole country by public sick funds. Eleven out of 14 regionally organised screening laboratories took part in an enquiry into the incidence, clinical symptoms and causes of inborn hypothyroidism. Among 427 430 newborn infants tested 137 children with inborn hypothyroidism were detected in 1979/80. The incidence of 1:3100 corresponds to European figures. On average treatment could be instigated by the 12th day of life. Clinical symptoms of hypothyroid newborns differed in part markedly from classical signs of hypothyroidism. About 30% of the mothers had goitre. The cost-benefit relationship of newborn hypothyroidism screening is 1:10.

Germany, West↗
PubMed2001

Neonatal screening and long-term follow-up of phenylketonuria: the French database.

BACKGROUND: In France, neonatal screening of phenylketonuria (PKU) started in 1966. A national association was created in 1978 in order to organise the neonatal screening program and to control the efficacy of the screening and patients' follow-up. AIMS: To evaluate the results of the French PKU screening program in terms of hyperphenylalaninaemia epidemiology, efficacy of the screening procedure, management and outcome of the patients. STUDY DESIGN: The national database has been filled-up first with the answers to questionnaires that were sent each year by the PKU patients' physicians, and second with the results of an additional inquiry, which was set up in 1994 in order to investigate diagnosis, treatment, and school outcome of all French PKU patients. RESULTS: PKU was diagnosed in 81.6% of patients with hyperphenylalaninaemia (HPA), non-PKU HPA in 17.2% and cofactor deficiency in 1.1%. From 1980, incidence of PKU has been stable: 1 per 17,124 live births. Sensitivity of the screening procedure was 99.3%. Age at diet initiation regularly decreased to reach 14 days as a median in 1996. Until 1990, median age at diet discontinuation was 6 years of age. Later, strict diet was continued longer (at least, up to 8-10 years). PKU patients who entered to secondary school at normal age were characterised by an earlier age at diagnosis and at diet initiation and a later age at diet discontinuation, compared to those who entered 1 year or more behind normal age. CONCLUSION: These data confirm the benefit of a nationwide organised screening program. They emphasise the importance of an early neonatal diagnosis and diet initiation in PKU patients and are consistent with the benefit of a longer period of strict diet in childhood.

Child↗
PubMed1987

Neonatal screening for metabolic and endocrine diseases.

The screening of neonates for metabolic diseases is important in order to identify a population with or at risk for metabolic diseases. Early diagnosis can then be made, treatment instituted and physical and/or mental handicaps due to the disease can be prevented. The World Health Organization's screening criteria are helpful in selecting those diseases appropriate for screening. Usually a state-designated central laboratory performs the screening tests. All states screen for phenylketonuria (PKU) and hypothyroidism; in addition, 26 states screen for galactosemia, 20 for maple syrup urine disease and 19 for homocystinuria. The cost-benefit ratio for screening programs is excellent, varying from 1:13 to 1:20. The necessary follow-up of patients for diagnosis and treatment can be enhanced by maintaining a close liaison with the laboratory and providing adequate information to parents. As a result of instituting a screening program, the incidence of mental retardation due to PKU has been practically eliminated and new insights about metabolic diseases have been obtained. The rapid progress in technology may soon result in better and cheaper tests capable of identifying more diseases amenable to treatment.

Cost-Benefit Analysis↗
PubMed2005

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.

The incidence of severe metabolic crises in medium chain acyl-CoA dehydrogenase deficiency (MCADD) patients homozygous for the common c.985A>G mutation, who had been identified by neonatal screening, was assessed prospectively and compared to retrospective cohort data in unscreened patients with identical genotypes. Logrank test showed a significant reduction of severe metabolic crises in the screened cohort (p<0.01). Neonatal screening appears to reduce the rate of severe metabolic crisis or death in the most prevalent subset of MCADD.

Acyl-CoA Dehydrogenase↗
PubMed1985

Inter-laboratory quality control in neonatal screening for inborn errors of metabolism.

Screening of neonates for inborn errors of metabolism has been carried out on a national level since 1969 in the Federal Republic of Germany. To raise the reliability of these routine investigations, we introduced an external quality control in March 1982. Every 2 months ten filter paper samples were sent to the screening centres in West Germany. Some of these samples have a normal and others a slightly raised content of phenylalanine, leucine, methionine and galactose. The success of this external quality control is appraised on the basis of the number of false negative results. In the course of time, screening centres in France, Israel, Italy, Japan, Switzerland, Taiwan, Turkey and Yugoslavia have also participated in these inter-laboratory quality controls.

Diagnostic Tests, Routine↗
PubMed1990

Effects of neonatal screening for cystic fibrosis on reproduction, attitudes toward reproductive behaviour and genetic knowledge.

An evaluation was carried out into whether neonatal screening for Cystic Fibrosis could potentially prevent the birth of more affected children in the same family. Although CF was detected in more than 50% within the first year of life in those cases where a diagnosis was made on clinical symptoms, in these families 10 children -- among whom two with CF -- were born prior to the CF diagnosis. With neonatal screening, no pregnancies were started before the CF-diagnosis. No differences were found in attitudes toward further reproduction and understanding of important genetic facts. Although prenatal diagnosis was not yet possible at the time of the study, approximately 50% of the parents showed a positive attitude toward this option. Minimizing the delay in diagnosis by neonatal screening, together with the availability of prenatal diagnosis may lead to a significant reduction in subsequent births of CF cases.

Attitude to Health↗
PubMed1991

Neonatal screening for haemoglobin variants using filter paper-dried blood specimens.

Neonatal screening for haemoglobinopathies utilizing cord blood samples is well established, although it has a high miss rate and has the inherent problem of possible misdiagnosis from maternal contamination of the sample. The use of dried Guthrie card samples which are taken at six days of age avoids these problems and has the advantage of using an established system of sample collection. Controversy exists as to the method of choice for analysis of dried samples, this study of 2406 samples found that Iso-electric focusing (IEF) analysis of dried specimens gives excellent correlation when compared with cellulose acetate/citrate agar electrophoresis of liquid cord blood samples. The IEF results were clear and relatively simple to interpret even when the samples had been stored at room temperature for 4 weeks. The commercial enzyme linked immunosorbent assay (ELISA) screening test JOSHUA reliably determines the presence or absence of haemoglobin S in dried specimens. It could therefore be used as a relatively cheap and simple method for the confirmation of sickle cell trait in neonatal screening programmes based on dried specimens.

Electrophoresis↗
PubMed2006

Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.

Neonatal screening programs for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) have recently been implemented. We report 2 newborns with elevated C14:1-carnitine levels on day 3 of life and normal levels on days 5 to 7. Enzyme and molecular analyses confirmed VLCADD in the first patient and heterozygosity in the second patient. We conclude that the diagnosis of VLCADD can be missed by acylcarnitine analysis during anabolic conditions. An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMed2003

[National neonatal screening program for cystic fibrosis: management and organization].

France has decided to add to the national neonatal screening program (Phenylketonuria, Hypothyroidism, Congenital Adrenal Hyperplasia, Sickle cell disease) the screening of cystic fibrosis (CF). The screening of CF will be implemented in all regions of France by the end of 2002 and will cover all newborn (near 800,000/year). Based on the recommendation of the French Screening Foundation, the project has been approved by the Health Ministry and will be financed by the social security. CF neonatal screening is now technically feasible and reliable. The proposed methodology includes: immunoreactive trypsin (IRT) dosage on all newborns at day 3 (by radioimmunology "Cis Bio" or immunofluorescence "Delfia") followed by genotype CFTR analysis if IRT level is above 60 micrograms/L. Screening for 29 mutations is planned. If genotype is negative, control of IRT at day 21 will be obtained. Several requirements are included in the program: a protocol of care for the newly diagnosed CF in a specialised CF center; information to all parents of newborns; results of CFTR genotype has to be given during a clinical visit, even if negative. This screening program should allow to screen 98% of the cystic fibrosis patients before the age of 1 month. In order to ensure perfect efficacy, the CF screening program will be evaluated and modified if necessary.

Cystic Fibrosis↗
PubMed2000

Nutritional status of patients with cystic fibrosis with meconium ileus: a comparison with patients without meconium ileus and diagnosed early through neonatal screening.

OBJECTIVE: This study was pursued as an extension of a randomized clinical investigation of neonatal screening for cystic fibrosis (CF). The objective was to determine if CF patients with meconium ileus (MI) were more likely to be malnourished compared with those without MI who were diagnosed during early infancy through neonatal screening. METHODOLOGY: Nutritional status was evaluated from early infancy to 13 years of age based on anthropometric, biochemical, and dietary assessments. RESULTS: MI patients (n = 32) were smaller at birth (3117 g compared with 3413 g) and were shorter (22nd percentile compared with 48th percentile) and thinner (24th percentile compared with 49th percentile) compared with non-MI early diagnosed patients (n = 50) up to 13 years of age. Poor growth was particularly evident in 26 MI patients who required surgery for MI (height and weight at the 20th percentile), whereas those treated without surgery (n = 6) showed better height (45th percentile) and weight (37th percentile). Abnormal essential fatty acid profiles were significantly more prevalent in MI compared with non-MI early-diagnosed patients before 3 years of age. Daily intakes of calorie (130% compared with 111% recommended dietary allowances) and protein (339% compared with 279% recommended dietary allowances) were higher but the percentage of fat (37% compared with 38%) and linoleic acid (4.5% compared with 4.7%) in the diet were similar between the two groups. CONCLUSIONS: These results demonstrated a clear association of MI with malnutrition in CF. The observed poor growth among our MI patients was not because of poor dietary intakes, but was related to surgical treatment for MI and poor essential fatty acid status. These findings present new challenges regarding the optimal medical treatment and nutritional intervention for CF patients with MI.

Case-Control Studies↗
PubMed2002

Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria.

BACKGROUND: Most reports on phenylketonuria (PKU) screening focused solely on the result of the initial investigation of the neonatal screening sample. The aim of this study was to evaluate an enzymatic phenylalanine (Phe) determination in the whole context spanning from the initial investigation over the recall period, up to the confirmation or exclusion of the disease. METHODS: Phe of dried blood spot specimens was analysed colorimetrically in a microtitre-plate assay based on the L-phenylalanine dehydrogenase reaction coupled with an intermediate electron acceptor system. This assay was evaluated for analytical variables and for neonatal PKU screening in a total number of 423,773 neonates during a 6-year period. RESULTS: Method validation with respect to linearity, precision (within-run CVs 3.4-4.2%, between-run CVs 6.2-10.4%), and accuracy fulfilled all requirements for a screening method. Mean Phe (+/-SD) of 130,000 healthy neonates was 84 (+/-22) micromol/l with a cut-off point (mean+3 SD) of 150 micromol/l. From 423,773 neonates, hyperphenylalaninemia was confirmed in 155 cases and further differentiated into PKU (41 cases, 27%), BH(4) deficiency (3, 2%), non-PKU HPA (67, 43%), transient neonatal HPA (28, 18%), and secondary HPA (16, 10%). The number of false-positives (recall-rate) was 0.23%, and no false-negatives were noted. CONCLUSIONS: Detailed studies over a period of 6 years including more than 400,000 neonates clearly show that the enzymatic assay is a reliable and sensitive method for neonatal screening of PKU. The proven prevalence of non-PKU HPA in the German population disclosed by the assay was twice as high as compared to the "Guthrie test" used previously. The growing use and application of tandem mass spectrometry in neonatal screening will not derogate the usefulness of the enzymatic assay in PKU screening in the foreseeable future. Careful analysis of our screening results and monitoring of all pathological samples resulted in an evidence-based flow chart for a rational PKU screening.

Amino Acid Metabolism, Inborn Errors↗
PubMed2005

[Neonatal screening: dynamics and ethics].

The Health Council of the Netherlands recently published a thorough report on neonatal screening, which recommends screening newborns for i8 treatable conditions. The report rightly stresses the importance of informing parents adequately, preferably during pregnancy. Issues that require further debate include neonatal screening for untreatable conditions and the relative advantages and disadvantages of screening newborns compared with screening prospective parents for carrier status, which may prevent the birth of a first-affected child.

Congenital Abnormalities↗
PubMed1997

Prepubertal and pubertal growth, timing and duration of puberty and attained adult height in patients with congenital hypothyroidism (CH) detected by the neonatal screening programme for CH--a longitudinal study.

OBJECTIVE: We have evaluated parameters of growth, the pubertal process and attained adult height in patients with congenital hypothyroidism (CH) of various aetiologies, diagnosed by the neonatal screening programme, and followed up longitudinally. To the best of our knowledge, no such data are available in the published literature. Our aim was to define the most important factors affecting these parameters. PATIENTS AND MEASUREMENTS: Thirty patients with CH (20 females and 10 males) diagnosed by neonatal screening (dysgenetic (n = 15), ectopic thyroid (n = 11), and enzymatic defect (n = 4)), treated with levo-thyroxine (L-T4) since the age of < or = 4 months, and followed up at intervals of 1-6 months for a mean period of 11.4 (range 5-19.6) years were evaluated. Detailed anthropometric measurements were performed by the same trained nurse, and pubertal stages were evaluated according to Tanner's criteria for breast or genitalia and pubic hair. Serum T4 and TSH levels were measured at each clinic visit using commercial kits. Bone age (BA) was determined at 6-12 months intervals using the Greulich & Pyle method. Seventeen patients attained adult height at the time of the report. RESULTS: Mean L-T4 dose of 7.9 (range 5.2-14.0) to 2.4 (range 1.3-3.4) micrograms/kg/day at various ages corrected the serum free T4(f-T4) levels to normal (> 10 pmol/l) in 95% of determinations, and the TSH level was reduced to < 10 mIU/l in 54% of the determinations during the follow-up period. Length at initiation of therapy (mean -0.15, (range -2.5-2.1) SDS), height at onset of puberty (mean -0.4, (range -1.8-1.8) SDS) and adult height (mean 0.2 (range -1.4-2.0) SDS, n = 17) were within the normal range (0.00 +/- 2 SDS). Onset and duration of puberty were normal in both sexes, and total pubertal growth contributed 19.1% (M) and 16.4% (F) to adult height. Peak height velocity (mean 10-6 (range 7.3-15.1) (M) and mean 8.0 (range 6.2-15.5) (F) cm/year) was within the normal range and occurred at the expected BA (14y; M and 12y; F). The attained average adult height was in close proximity to the average target height in both males and females. A significant positive correlation was found between the average L-T4 daily dose administered during the first 6 months of treatment and the attained adult height. CONCLUSIONS: Early detection by neonatal screening and treatment of congenital hypothyroidism enables normal prepubertal and pubertal growth and achievement of normal adult height, following normal puberty. Adult height in congenital hypothyroidism is significantly correlated with parental height and the mean L-T4 daily dose administered over the first 6 months of treatment. A dose of at least 8.5 micrograms/kg/day is recommended during this period. Periodical adjustments of L-T4 daily dose should be guided by clinical observation and serum free T4 levels.

Adolescent↗
PubMed2002

[Neonatal screening for congenital adrenal hyperplasia in Shanghai areas].

OBJECTIVE: To investigate the incidence of congenital adrenal hyperplasia (CAH) in Shanghai areas by a neonatal screening program. METHODS: Heel prick blood samples were collected from 50 600 newborns in 50 maternal and child health care hospitals and maternity hospitals 72 hours after their birth and adsorbed onto standard filter paper for determining 17-hydroxyprogesterone (17-OHP) by enzyme linked-immunosorbent assay (ELISA). RESULTS: Level of 17-OHP was significantly increased in eight cases of the 50 600 newborns, three cases of whom with established CAH with hyponatremia, hyperkalemia and hypertestosteronemia duo to 21-hydroxylase deficiency, and other five cases with high level 17-OHP due to preterm delivery. CONCLUSIONS: Determining 17-OHP level on dried blood spotted filter paper is a reliable and practical approach for CAH mass screening in neonates. The incidence of CAH in Shanghai areas was 5.93 per 100 000 newborns (3/50 600).

17-alpha-Hydroxyprogesterone↗
PubMed1991

Review of neonatal screening programme for phenylketonuria.

OBJECTIVE: To review the neonatal screening programme during 1984-8. DESIGN: Analysis of data from screening laboratories and paediatricians. SUBJECTS: All live births in United Kingdom. MAIN OUTCOME MEASURES: Structure of programme; number of infants tested and number with phenylketonuria; number of infants missed; ages at testing and treatment. RESULTS: The proportion of infants tested approached 100%. The incidence of phenylketonuria was 11.7/100,000 births (445 subjects): 273 had classic phenylketonuria and three had defects of cofactor metabolism. One child with phenylketonuria was known to have been missed compared with three in 1979-83 and six in 1974-8. Seven subjects had been missed over the 15 years due to negative test results. All seven had been tested with the bacterial inhibition assay, although only 53% of infants had been so tested; the difference between the expected and observed proportion was significant (Fisher's exact test, p = 0.017). Eleven infants with classic phenylketonuria were not tested by 14 days of age and 23 (8%) did not start treatment until after 20 days, an improvement compared with 36 (15%) in 1979-83. There were, however, wide regional variations (0% to 27% treated after 20 days). CONCLUSION: The screening programme achieves high coverage and effectiveness, although some children are still missed. A national practice for screening may help reduce regional variations.

Age Factors↗