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PubMed2000

[A cost-benefit evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism].

OBJECTIVE: In order to make the best use of health care resources, to achieve the maximal social and economic benefits and to lay a foundation for popularizing neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CH), a cost-benefit analysis of the screening program was conducted. METHODS: Cost for and benefit gained from screening were calculated according to the average incidence of two diseases recommended by the Ministry of Health, mean charge for neonatal screening, sampling extraction of medical history and data published in national economic statistics. RESULTS: The cost of neonatal screening, treatment for PKU with low phenylalanine milk powder and follow up, the total add up to 128 793 Yuan However the direct and indirect financial benefits is 481 263 Yuan, ratio of cost to benefit was 1:3.7. The cost of neonatal screening for CH is 129 175 Yuan. However the financial benefits including the money saved in treatment, nursing care, special education and the loss of income avoided is 468 470 Yuan, ratio of cost to benefit was 1:3.6. CONCLUSION: Neonatal screening for PKU and CH in this country reflects a better economic and social benefit and merits further popularization.

Congenital Hypothyroidism↗

PubMed2003

Neonatal screening for citrullinaemia.

UNLABELLED: In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 micro mol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. CONCLUSION: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms.

Argininosuccinic Aciduria↗

PubMedDate not supplied

Can severe neonatal jaundice be prevented by neonatal screening for glucose-6-phosphate dehydrogenase deficiency?--a review of evidence.

An evidence-based approach is used to evaluate the neonatal screening program for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. The primary consideration to include G-6-PD deficiency (G-6-PDD) in neonatal screening program was the public health burden of G-6-PDD-associated neonatal jaundice (G-6-PDDANJ) in the target population. However, the prevalence of G-6-PDD per se cannot be the sole index of the public health burden of G-6-PDDANJ. In more developed areas, G-6-PDDANJ is no longer a major public health problem. Further, most cases with G-6-PDDANJ in more developed areas are not precipitated by any identifiable icterogenic agents, and therefore not preventable by avoidance education. In less developed areas, however, G-6-PDDANJ is still a big public health burden and requires intervention. In this study, the effectiveness of neonatal screening programs for G-6-PDD to prevent severe neonatal jaundice(NJ) has been shown based on historical comparison, but the results may be confounded by other temporal factors. G-6-PDDANJ usually occurs in the first week after birth. Prompt need for G-6-PD screening results precludes it from incorporation into other existent neonatal screening programs (i.e., for PKU), and from centralization of laboratory work. The efficacy, adverse effects and cost-effectiveness of this mass screening program need further study.

Cost-Benefit Analysis↗

PubMed1992

Delayed diagnosis of infants with abnormal neonatal screens.

OBJECTIVE: To identify infants who were diagnosed clinically with a condition that previously had been detected by a state neonatal screening program, but who had failed to receive medical attention in a timely fashion. DESIGN: A descriptive case series of infants over a 2-year period from 1989 to 1991. SETTING: An academically affiliated tertiary care pediatric hospital, a major referral center for children with abnormal results on state neonatal screening tests. PATIENTS: All patients who (1) had a diagnosis suspected clinically, (2) had confirmation of disease, and (3) were subsequently found to have had abnormal screening results. MAIN OUTCOME MEASURES: Age at clinical diagnosis, morbidity due to delay in diagnosis, and postnatal medical follow-up. RESULTS: Ten children were identified, three with 21-hydroxylase deficiency and seven with a hemoglobinopathy. In each case, the screening program had clear documentation that the office of the physician of record had received prompt telephone communication of the abnormal result. The mean age at clinical diagnosis was 32 days for the children with 21-hydroxylase deficiency and 215 days for those with sickle cell anemia, substantially longer than is mandated by proper neonatal screening practice. Potentially life-threatening complications of the underlying disease were present in six children. CONCLUSIONS: A significant number of neonates who have metabolic disorders appropriately identified by a neonatal screening test may fail to receive timely treatment. Consideration should be given to implementing a system of directly contacting the parents of all presumptive positive cases by the state screening program.

Adrenal Hyperplasia, Congenital↗

PubMed1999

A nationwide follow-up system is essential for a neonatal screening program.

A long-term follow-up study gives many benefits to patients detected by neonatal screening, their families, and all members who are involved in neonatal screening program. However, the follow-up system is not functioning satisfactorily enough in Japan. A nationwide long-term follow-up system needs to be established immediately to make the neonatal screening system complete in Japan.

Child Health Services↗

PubMed2003

Congenital hypothyroidism and iodine status in Turkey: a comparison between the data obtained from an epidemiological study in school-aged children and neonatal screening for congenital hypothyroidism in Turkey.

BACKGROUND: Congenital hypothyroidism and endemic iodine deficiency are the most common cause of mental retardation. However in both cases retardation is of nonpreventable nature. OBJECTIVE: The aim of the study was to investigate whether epidemiological study in school-aged children or neonatal screening of congenital hypothyroidism (CH) was useful to assess iodine status and monitor the preventive measures of iodine deficiency disorders (IDD). SUBJECTS: To study the epidemiology, 1046 school children, aged 8 to 12 years from 23 primary schools in rural and urban areas from three cities in Turkey were included. Neonatal screening for congenital hypothyroidism (CH) was carried in. METHODS: Goiter and thyroid volume were assessed by palpation and ultrasound, respectively. Thyroid stimulating hormone (TSH), total thyroxine (T4), and urinary iodine excretion (UIE) were measured. Neonatal screening for CH was adjusted according to the guidelines of Pediatric Endocrinology of the European Society for Pediatric Endocrinology. RESULTS: There was no significant difference between the median TSH in school-aged children and the cities of Bolu and Duzce (p>0.05). Median TSH of Zonguldak was significantly different from the median TSH of Bolu (p=0.046) and Düzce (p=0.028). There was no significant difference between the median T4 levels of Bolu and Duzce (p>0.05). The median T4 of Zonguldak showed a significant difference from the median T4 value of Bolu (p=0.018), but an insignificant difference from the median T4 of Duzce (p>0.05). The overall goiter prevalence in 1046 children was 52%. In two years, 18606 newborns were screened. With a cut-off point at TSH >20 microm U/ml, the recall rate was 1.6% and the incidence of CH 1/2326. There was 26.7% children with TSH >5 microm U/ml. Both data of the epidemiological study in school-aged children and neonatal screening for CH indicated that the West Black Sea Region is affected by mild to moderate iodine deficiency. CONCLUSION: the implementation of neonatal screening for congenital hypothyroidism using TSH measurement has many advantages. It can detect congenital hypothyroidism and transient primary hypothyroidism, and can also be used for monitoring tools of preventive measures of IDD. Countries, such as Turkey, which has not begun national screening for CH yet, should make implementation of neonatal screening for CH using primary TSH measurement a political priority.

Biomarkers↗

PubMed1994

[Neonatal screening in congenital hypothyroidism in Italy. The National Registry].

Neonatal screening for congenital hypothyroidism (CH) began in Italy in 1977 and then progressively developed covering 97% of live births in 1992. The National Register of infants with congenital hypothyroidism was established in 1987 as a project of the Health Ministry and is coordinated by the Italian Institute of Health. The aim of the Register is to provide disease surveillance, to monitor the efficiency and effectiveness of neonatal screening and to allow the identification of possible etiological risk factors in congenital hypothyroidism. The results of the Register provided valuable epidemiological informations about congenital hypothyroidism in Italy and evidenced several areas in whom an increased incidence probably caused by iodine deficiency was observed. Discussion of Register data during annual national meetings has allowed an improvement of the screening program with particular regard to the beginning of therapy with L-thyroxine and its dose. Because of the wide spectrum of collected information, the National Register represents a useful tool for developing of collaborative studies concerning some aspects of CH not yet completely elucidated.

Congenital Hypothyroidism↗

PubMed1999

Secondary analysis of economic data: a review of cost-benefit studies of neonatal screening for phenylketonuria.

STUDY OBJECTIVE: To estimate the net financial benefit of neonatal screening for phenylketonuria (PKU): by a simple pooling of cost data from the literature; and by a more complex modelling approach. DESIGN: A systematic literature review was conducted to identify papers containing data on the monetary costs and benefits of neonatal screening for PKU. The methodological quality of the studies was appraised, and data were extracted on resource use and expenditure. Monetary data were converted to common currency units, and standardised to UK incidence rates. Net benefits were calculated for median, best case and worst case scenarios, and the effect of excluding poor quality studies and data was tested. The net benefit was also estimated from a model based on data from the literature and assumptions appropriate for the current UK situation. Extensive sensitivity analysis was conducted. MAIN RESULTS: The direct net benefit of screening based on the median costs and benefits from the 13 studies identified was 143,400 Pounds per case detected and treated (39,000 Pounds and 241,800 Pounds for worst case and best case scenarios respectively). The direct net benefit obtained by the modelling approach was lower at 93,400 Pounds per case detected and treated. Screening remained cost saving under sensitivity analysis, except with low residential care costs (less than 12,300 Pounds per annum), or very low incidence rates (less than 1 in 27,000). CONCLUSIONS: The economic literature on PKU screening is of variable quality. The two methods of secondary analysis lead to the same conclusion: that neonatal PKU screening is worthwhile in financial terms alone in the UK, and that it justifies the infrastructure for collecting and testing neonatal blood samples. This result cannot necessarily be extrapolated to other countries.

Cost-Benefit Analysis↗

PubMed1993

Congenital adrenal hyperplasia (CAH)--the place for prenatal treatment and neonatal screening.

What are the respective places for prenatal treatment and neonatal screening in 21 hydroxylase deficiency, (21OHD) CAH? Current diagnostic procedures for 21OHD CAH do not prevent potential or actual morbidity and mortality from salt wasting and hypoglycaemia, ambiguous genitalia and late diagnosis. Presentation is with life-threatening illness or virilisation with long-term physical, psychological and psychosexual sequelae. Screening the whole newborn population would add only a very small additional unit cost in the screening laboratory already measuring TSH and phenylalanine. There are still few data on which to base an assessment of the efficacy of neonatal screening in reducing morbidity and mortality. Screening should now be adopted on a regional, or national, basis to assess both efficacy and cost-effectiveness. Although more (uncontrolled) data are now available concerning prenatal dexamethasone therapy, the degree of benefit in terms of reduced virilisation in relation to potentially significant maternal side effects is unclear and possible long term childhood side effects have not been studied. At present, therefore, there is insufficient evidence regarding the safety of mother and fetus to recommend the general use of dexamethasone outwith the context of controlled scientific studies. There is an urgent need for prospective controlled studies to be undertaken which would, in time, resolve both questions.

Adrenal Hyperplasia, Congenital↗

PubMed1997

[Neonatal screening for congenital hypothyroidism].

In Austria, neonatal screening for congenital hypothyreosis has been introduced since 1976 as a part of the national screening program for inborn errors of metabolism. Capillary blood spots are collected on filter paper from all newborns on day 3 to 5 and are subsequently investigated with a delayed fluorescence-immunoassay (DELFIA) for the determination of TSH. Since 1992 we have detected 105 patients with congenital hypothyreosis among 365,120 newborns. The recall rate of the primary TSH screening is about 0.35%. Only primary (thyroidal) hypothyreosis, but not secondary and tertiary (pituitary and hypothalamic) types of hypothyreosis are detected by the primary TSH newborn screening. As TSH is physiologically high during the first 2 days of life, the trend to early hospital discharge will result in a significant increase of the recall rate in future.

Adolescent↗

PubMed2002

Confirming congenital hypothyroidism identified from neonatal screening.

All patients identified in the neonatal screening programme for congenital hypothyroidism in Northern Ireland between 1983 and 1993 were reviewed. 131 infants were recalled because of TSH elevation of whom 85 proved to have true permanent congenital hypothyroidism, while 44 had transient TSH elevation and 2 cases died before the diagnosis could be confirmed. TSH elevation at presentation was milder in the transient group and these infants were more likely to be unwell and/or suffering from congenital malformation.

Congenital Hypothyroidism↗

PubMed1992

Parents' knowledge of neonatal screening and response to false-positive cystic fibrosis testing.

Neonatal screening for cystic fibrosis (CF) has become feasible through analyzing dried blood specimens for immunoreactive trypsinogen (IRT), but the benefits and risks of such a screening program remain to be delineated. This study, a survey of the parents of 104 Wisconsin infants with false-positive IRT tests, showed parents had knowledge deficits about neonatal screening in general, misconceptions about test results, and high levels of anxiety. Parenting behaviors were reportedly unchanged during the usual 3-day waiting period between the news of the abnormal screening test and the diagnostic sweat test. Most, but not all, parents were relieved by negative sweat test results subsequent to the abnormal IRT test. Factors associated with continued parental concern included having less than a high school education and/or having an infant with low Apgar scores. Additionally, those contacted by telephone were more likely to have misinformation and lingering concerns about the presence of CF in their child.

Anxiety↗

PubMed1998

[Neonatal screening for sickle cell disease in the Consorci Sanitari de Mataro. Rationale and first results].

OBJECTIVE: Neonatal screening for sickle cell disease in prevalent population permits its early detection and provides the possibility of starting early prophylactic measures that will greatly reduce the high mortality of the disease. METHODS: We expose the preliminary results of a neonatal screening for sickle cell disease, with alkaline and acid hemoglobin electrophoresis, selective for the black population coming from subsaharian Africa ad immigrated to our area. They are 82 black neonates born in our hospital between July 1995 and July 1997. RESULTS: Despite they are too few, we can talk about a gene prevalence (S, C) of 10.98% (95% IC 4.21-17.74), and a disease prevalence (SS, CC, SC, S-betathalassemia) of 1.22% (95% IC 0.00-3.60) which is slightly lower that what we expected. CONCLUSIONS: Neonatal screening for sickle cell disease in the black immigrated is necessary, and alkaline and acid hemoglobin electrophoresis is an appropriate technique.

Anemia, Sickle Cell↗

PubMed1999

Application of electrospray tandem mass spectrometry to neonatal screening.

For the past 30 years, neonatal screening programs have been performed largely by using the bacterial inhibition assays developed by Dr Robert Guthrie. These programs focused on a small number of diseases such as phenylketonuria and maple syrup urine disease and involved one test for each disease. During the same period many new diseases were discovered, such as organic acidemias and fatty acid oxidation defects, and they presented a diagnostic challenge to biochemical laboratories. Different mass spectrometric approaches have been the main tools for the diagnosis; however, each has its own limitation. Recently, electrospray tandem mass spectrometry (MS/MS) has provided an alternative automated high throughput, specific, and broad-spectrum approach to screening for a relatively large number of disorders, including those covered by bacterial inhibition assays tests. By using specific scan functions, a large number of amino acids and acylcarnitines in blood spots are quantified in 2 minutes analytical time. A new scan function is described here for quantification and screening for argininosuccinic acid in blood spots, which is a key metabolite in the diagnosis of argininosuccinase deficiency. We describe the results of a 3-year tandem MS/MS-based neonatal study that was performed in our newborn population. We screened 27,624 blood spots and identified 20 cases yielding a frequency of 1:1,381. No false-negative cases were identified, but several false-positive cases were eliminated by repeat analysis by MS/MS of blood or by other means. We also used MS/MS analysis of urine or blood either for confirmation of initial positive results or for follow-up of treatment, such as in glutaric acidemia, citrullinemia, argininosuccinase deficiency, and biopterin-dependent phenylketonuria.

Autoanalysis↗

PubMedDate not supplied

[Neonatal screening of congenital hypothyroidism. Introduction].

Neonatal screening of congenital hypothyroidism will be generalized in France during the next year, after it has been experienced in three regional areas. The data obtained from these experiences have shown that TSH assay is probably the safest way to detect most cases of thyroid failure in newborns. The Round Table organized by the Societé Française d'Endocrinologie has given opportunity to discuss previous trials and their results, and to prepare the large-scale organization of this new progress in preventive medicine.

Congenital Hypothyroidism↗

PubMed1997

Neonatal screening for cystic fibrosis in the Trent region (UK): two-stage immunoreactive trypsin screening compared with a three-stage protocol with DNA analysis as an intermediate step.

OBJECTIVES: To assess neonatal screening for cystic fibrosis using immunoreactive trypsin, either alone or in conjunction with DNA analysis for the delta F508 mutation. A novel three-stage screening protocol was compared with the previously introduced two-stage immunoreactive trypsin-DNA protocol. DESIGN: (a) Collection of data from a 4 1/2 year period (phase 1) of two-stage immunoreactive trypsin screening. The initial dried blood samples were obtained at 6 days of age and repeat samples at 27 days of age from babies with results above the 99.5th centile. Babies with persistent hypertrypsinaemia were referred for a diagnostic sweat test. (b) Retrospective DNA analysis: patients with cystic fibrosis diagnosed in phase 1 were genotyped and most samples from babies with increased initial immunoreactive trypsin but normal results in the second sample were analysed for the delta F508 mutation. (c) Phase 2, a prospective study of a three-stage neonatal screening protocol, in which only babies heterozygous for the delta F508 cystic fibrosis mutation progressed to the second immunoreactive trypsin test. SETTING: The Trent neonatal screening programme. SUBJECTS: 437 859 babies born between August 1989 and March 1996. MAIN OUTCOME MEASURES: Proportions of unaffected babies requiring a second blood sample or a sweat test. Overall sensitivity for the detection of cystic fibrosis. RESULTS: The two-stage screen failed to identify six out of 94 cases of cystic fibrosis (without meconium ileus). The introduction of the DNA analysis step would have resulted in one additional case being missed. With the three-stage screen there was a 92% reduction in babies requiring a second blood sample and an 80% reduction in negative sweat tests, results close to the predictions of the retrospective study. CONCLUSIONS: The three-stage screening protocol is a marked improvement on the two-stage immunoreactive trypsin strategy and on the two-stage immunoreactive trypsin-DNA strategy recently introduced in some other screening programmes.

Cystic Fibrosis↗

PubMed2000

Reproductive decisions after neonatal screening identifies cystic fibrosis.

AIMS: To document the reproductive choices made by women in New South Wales, Australia, after neonatal screening has identified cystic fibrosis (CF). METHODS: A sample of women attending cystic fibrosis clinics in New South Wales who had a child (or children) diagnosed by neonatal screening between 1981 and 1996 were interviewed. RESULTS: Two thirds of the women chose to avoid having another child with CF. The uptake of prenatal diagnosis was 66% in women who had a subsequent pregnancy; of these 69% terminated or would have terminated an affected fetus. Fifty nine per cent of the women who decided against a further pregnancy made this decision in order to avoid having another child with CF. CONCLUSIONS: These data show that having a child with CF influenced subsequent reproductive choices. In addition to the medical advantages of an early diagnosis offered by neonatal screening, this also allows informed future reproductive decisions.

Cystic Fibrosis↗

PubMed1997

Audit of neonatal screening programme for phenylketonuria and congenital hypothyroidism.

The performance of the neonatal screening programme was audited against clinical standards in the Bath clinical area from 1 April 1994 to 31 March 1996. The standards and policy were agreed by local service provider representatives of the screening and were audited, using laboratory and child health computer systems and medical records. Two annual reports were produced with recommendations for improvement communicated to representatives of the service. Thus the first audit loop has been completed. The audit shows that the coverage of the service is excellent, with all eligible babies being offered screening; those with congenital hypothyroidism or phenylketonuria receive appropriate treatment by the 28 day standard. The process works extremely well, although areas for improvement have been identified, to increase the efficiency of the service. It is concluded that an effective and efficient audit cycle can be established, to monitor and improve the performance of the neonatal screening service.

Age Factors↗