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PubMedDate not supplied

Controlled trial of universal neonatal screening for early identification of permanent childhood hearing impairment. Wessex Universal Neonatal Hearing Screening Trial Group.

BACKGROUND: Congenital permanent childhood hearing impairment (PCHI) impairs communication skills and, possibly, mental health and employment prospects. Management within 1 year of birth can alleviate most of its adverse effects. Neonatal screening for this disorder is feasible but its benefit for all babies is disputed. We investigated whether neonatal screening of all babies born in hospital, in addition to the standard health visitor distraction test, would increase the rates of early referral, confirmation, and management. METHODS: Between 1993 and 1996, two teams of four part-time testers and equipment moved between two pairs of hospitals to achieve four periods with neonatal screening and four without neonatal screening, each of 4-6 months' duration. Babies did or did not undergo neonatal screening dependent on during which periods they were born. We used a transient evoked otoacoustic emissions test and, in babies who failed this test, an automated auditory brainstem response test on the same day. We referred babies with positive results for audiological assessment. FINDINGS: 53,781 babies were included in the trial, and 25,609 were born during periods with neonatal screening. Neonatal screening achieved 87% coverage of births, with a false-alarm rate of 1.5%, and an overall yield of 90 cases of bilateral PCHI of 40 dB or more relative to hearing threshold level per 100,000 target population, equivalent to 80% of the expected prevalence of the disorder in the population. 71 more babies with moderate or severe PCHI per 100,000 target population were referred before age 6 months during periods with neonatal screening than during periods without. Early confirmation and management of PCHI were significantly increased. The rate of false-negative results from neonatal screening was significantly lower than that for the distraction test (4 vs 27% p=0.041). INTERPRETATION: Neonatal screening is effective in identification of congenital PCHI early and may be particularly useful for babies with moderate and severe PCHI for whom early management may have the most benefit.

England↗
PubMed1992

Newborn screening for cystic fibrosis. The Cystic Fibrosis Neonatal Screening Study Group.

Many questions remain regarding the efficacy, risks, and costs of CF neonatal screening. The major gap in knowledge that must be closed before CF neonatal screening can be recommended generally in the United States concerns the potential long-term medical benefits of initiating treatment in early infancy. 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. It is for this reason we designed a randomized, controlled investigation of CF neonatal screening and implemented this project in Wisconsin during 1985. The fact that 5 years of randomized screening and systematic evaluation of outcome measures have not yet revealed any pulmonary benefits underscores the importance of rigorous investigation to resolve the efficacy issue. In addition to the medical uncertainties, we believe that the ethical issues described herein need to be resolved; this concern pertains not only to the CF patient but also the heterozygote carrier. On the other hand, financial factors and uncertainty about the cost effectiveness of CF neonatal screening do not appear to be dominant issues according to our assessment of current data. Despite the reservations related to the benefit/risk relationship, we expect that the discovery of the CF gene should have a favorable impact on neonatal screening for the disease, as well as for management.

Cost-Benefit Analysis↗
PubMedDate not supplied

[The wonderful history of neonatal screening].

The concept of neonatal screening for metabolic disorders was launched by Robert Guthrie in 1963. A filter paper blood sample and a cheap and rapid analytical technique were factors that paved the road to success. Mass screening for phenylketonuria soon started to spread. Various additional screening procedures for other metabolic or endocrine conditions were subsequently developed. Most of developed countries have set up systematic neonatal screening programs and million of babies are screened each year. This review presents the main milestones of the fantastic history of neonatal screening but also the questions risen by many temptations to extend the screening to other disorders which not necessarily fulfil classic criteria for systematic search. Ethical and health economical aspects will be the most important issues for the development of neonatal screening in the next millennium.

History, 20th Century↗
PubMed1997

Current status of neonatal screening for congenital adrenal hyperplasia.

Greater than 7.5 million newborns have been screened for 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) worldwide. As a result of such screening efforts, neonatal screening for CAH has proven to be highly reliable and has benefited countless numbers of affected newborns with classic 21-hydroxylase deficiency by contributing to the early diagnosis of the disorder. The screening process, however, is less reliable among low-birth-weight or preterm infants, and recent studies show that newly established normative reference levels based on birth weight or gestational age may minimize false-positive rates and improve the efficacy of newborn screening for CAH, particularly in low-birth-weight newborns.

Adrenal Hyperplasia, Congenital↗
PubMed1993

The National Register of infants with congenital hypothyroidism detected by neonatal screening in Italy.

Neonatal screening for congenital hypothyroidism began in Italy in 1977 and then progressively developed covering 94% of live births in 1991. The National Register of infants with congenital hypothyroidism was established in 1987 as a project of the Health Ministry. The results of the Register provided valuable epidemiological information about congenital hypothyroidism in Italy and evidenced some aspects in the screening organization which had to be improved. Discussion of Register data during annual national meetings has recently allowed an improvement of the screening program with particular regard to the beginning of therapy with L-thyroxine and its dose.

Congenital Hypothyroidism↗
PubMed1987

Proposed guidelines for screening of metabolic and endocrine diseases of dependent neonates of the U.S. Armed Forces. Derived from a survey of state guidelines for neonatal screening of metabolic diseases.

State regulations for neonatal screening for metabolic diseases do not optimally serve the needs of the dependents of the U.S. Armed Forces. Guidelines are therefore proposed for the neonatal screening for metabolic disease based both on responses received across the United States and on the unique needs of the U.S. Armed Forces. The guidelines agree with the policies outlined by various national medical and scientific organizations. It is suggested that neonates be screened for phenylketonuria (PKU), hypothyroidism, galactosemia, and maple syrup urine disease (MSUD). The screening program is cost-effective and feasible. Prior to implementing the program throughout the U.S. military, a pilot program based at the Armed Forces Institute of Pathology should be started.

Costs and Cost Analysis↗
PubMed2005

Incidence of haemoglobinopathies detected through neonatal screening in the United Arab Emirates.

In January 2002, a pilot programme of neonatal screening for sickle cell disease was launched in the United Arab Emirates (UAE) in 3 districts of Abu Dhabi emirate. This paper reports the incidence of sickle cell diseases, other haemoglobinopathies and haemoglobinopathy carriers over a 12-month period using high performance liquid chromatography as a primary screening method. The overall incidence of sickle cell disease among 22 200 screened neonates was 0.04% (0.07% for UAE citizens and 0.02% for non-UAE citizens). The incidence of sickle cell trait was 1.1% overall (1.5% for UAE citizens and 0.8% for non-UAE citizens). Universal neonatal screening for sickle cell haemoglobin at the national level should be considered.

Anemia, Sickle Cell↗
PubMed2003

[Sickle cell disease neonatal screening. First evaluation].

A neonatal screening allows a preclinical diagnosis of major sickle cell syndromes and an early management of the affected children. That would improve their life quality and expectancy. The preliminary program was set up on 518 senegalese newborn aged from 1 to 4 days, and coming from all the country ethnic groups. Isoelectrofocalisation is the test used on dried blood eluate and the positive control on citrate agar gel. 478 samples out of 518 (92.5%) have been analysed. Haemoglobinopathy have been found in 11.1% of cases, distributed as follow: heterozygoty FAS and FAC: 9%, double heterozygoty FSC: 0.2% and homozygoty FSS: 1.9%. Sickle cell neonatal screening should be imperatively implemented, with regards in economical considerations. It would be relevant to integrate it in a larger program including information, training and genetic counselling in order to avoid homozygotes birth and to lower the spread of this disease.

Anemia, Sickle Cell↗
PubMed1988

Neonatal screening for biochemical disorders.

Neonatal screening for phenylketonuria and hypothyroidism is well established in most developed countries but there is no clear agreement on which other disorders, if any, should be added to screening programmes. This article describes the basic principles involved and looks at a wide range of diseases which may be considered as candidates for neonatal screening.

Adrenal Hyperplasia, Congenital↗
PubMed1989

Survival and clinical outcome in patients with cystic fibrosis, with or without neonatal screening.

After an experimental neonatal screening program for cystic fibrosis had been carried out in the Netherlands during 1973 to 1979, a follow-up study to evaluate the effects of neonatal screening was started in 1980. Although before 1980 the management of patients with cystic fibrosis was partly left to local hospitals, from the start of the follow-up program all patients in the study received similar treatment. A cumulative survival rate, calculated with exclusion of the patients with meconium ileus, showed at the age of 11 years a significantly better survival rate (p less than 0.05) for the 19 patients from the screened population (88%) than for the 25 patients from the nonscreened population (60%). Clinical condition was assessed on entry and at the age of 9 years in 16 screened and 20 nonscreened patients. On entry, comparison showed significantly better chest radiograph scores for the screened patients but no other significant differences. At the age of 9 years, after several years of similar treatment for all patients in the study, significantly better clinical (p less than 0.02) and chest radiograph scores (p less than 0.01), lower IgG levels (p less than 0.05), and higher vitamin A levels (p less than 0.01) were observed in the screened patients. Our study results suggest that early diagnosis and appropriate treatment may prevent serious deterioration and death at a young age, and may reduce the extent of early irreversible lung damage in patients with cystic fibrosis.

Albumins↗
PubMed1994

The pancreatitis-associated protein (PAP). A new candidate for neonatal screening of cystic fibrosis.

Neonatal screening of cystic fibrosis (CF) is presently based on immunoreactive trypsin (IRT) assay in blood spots, whose low specificity is a matter of concern. Because the pancreatitis-associated protein (PAP) proved to be a better serum marker of pancreatic alteration than exocrine enzymes, it might be an interesting alternative for CF screening. We report here a preliminary evaluation of the PAP test, conducted in retrospect on blood spots from groups of neonates already screened for CF with the IRT. Neonates with elevated IRT were submitted to subsequent analysis of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Neonates with normal IRT (n = 990) or high IRT but normal genotype (n = 28) had normal PAP. Elevated PAP was observed in all CF neonates (n = 11). False-positives for the PAP test were found only among neonates with high IRT and heterozygotes for a mutation in the CFTR gene (6 out of 17 cases). That group represents less than 0.2% of newborns. These results therefore suggest that PAP discriminates CF neonates with a significantly better specificity than IRT.

Antigens, Neoplasm↗
PubMed1987

[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 4. Development of enzyme-linked immunosorbent assay for dried blood cortisol and its application to neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

An enzyme-linked immunosorbent assay (ELISA) for Cortisol in dried blood collected on filter paper has been developed. The ELISA method is very simple and rapid and has sensitivity, accuracy and precision. The detection limit of the ELISA is 10 ng/ml blood. The intra- and interassay coefficients of variation are 11.5-13.5% and 15.7-16.7, respectively. Using the ELISA for Cortisol and 17-hydroxyprogesterone (17-OHP) previously reported, dried blood from normal newborns including premature infants (n = 1583) and 21-hydroxylase deficiency (21-OHD) patient (n = 9) were analyzed. 17-OHP, Cortisol and 17-OHP/Cortisol ratio of normal newborns are 12.5 +/- 7.5 ng/ml (1.0-140 ng/ml), 89.0 +/- 64.3 ng/ml (10-1580 ng/ml) and 0.16 +/- 0.08 (0.01-0.86), respectively. In 21-OHD patients, 17-OHP is 109-1361 ng/ml, Cortisol is 35.1-146.7 ng/ml and 17-OHP/cortisol ratio is 1.84-12.2. It made recall rate less to measure Cortisol in addition to 17-OHP and to take 17-OHP/Cortisol ratio. Therefore, additional measurement of Cortisol to the primary 17-OHP screening test is advantaged in differentiating the normal newborns from the 21-OHD patients.

Adrenal Hyperplasia, Congenital↗
PubMed2001

Evaluation of neonatal screening for congenital adrenal hyperplasia.

Neonatal screening for congenital hypothyroidism has been effective in early detection and treatment of the condition. The position with respect to neonatal screening for congenital adrenal hyperplasia has been debated for many years. Some countries have performed congenital adrenal hyperplasia screening for many years, others have conducted pilot studies that were then not adopted. This article endeavours to summarize the complex issues behind decisions whether to screen or not and summarizes the findings of neonatal congenital adrenal hyperplasia screening programmes.

Adrenal Hyperplasia, Congenital↗
PubMed2005

The cost-effectiveness of neonatal screening for cystic fibrosis: an analysis of alternative scenarios using a decision model.

BACKGROUND: The use of neonatal screening for cystic fibrosis is widely debated in the United Kingdom and elsewhere, but the evidence available to inform policy is limited. This paper explores the cost-effectiveness of adding screening for cystic fibrosis to an existing routine neonatal screening programme for congenital hypothyroidism and phenylketonuria, under alternative scenarios and assumptions. METHODS: The study is based on a decision model comparing screening to no screening in terms of a number of outcome measures, including diagnosis of cystic fibrosis, life-time treatment costs, life years and QALYs gained. The setting is a hypothetical UK health region without an existing neonatal screening programme for cystic fibrosis. RESULTS: Under initial assumptions, neonatal screening (using an immunoreactive trypsin/DNA two stage screening protocol) costs 5,387 pound sterling per infant diagnosed, or 1.83 pound sterling per infant screened (1998 costs). Neonatal screening for cystic fibrosis produces an incremental cost-effectiveness of 6,864 pound sterling per QALY gained, in our base case scenario (an assumed benefit of a 6 month delay in the emergence of symptoms). A difference of 11 months or more in the emergence of symptoms (and mean survival) means neonatal screening is both less costly and produces better outcomes than no screening. CONCLUSION: Neonatal screening is expensive as a method of diagnosis. Neonatal screening may be a cost-effective intervention if the hypothesised delays in the onset of symptoms are confirmed. Implementing both antenatal and neonatal screening would undermine potential economic benefits, since a reduction in the birth incidence of cystic fibrosis would reduce the cost-effectiveness of neonatal screening.

Journal Article↗
PubMed2000

High prevalence of congenital toxoplasmosis in Brazil estimated in a 3-year prospective neonatal screening study.

BACKGROUND: A pilot neonatal screening programme revealed a high (approximately 1 per 4800 live births) prevalence of congenital toxoplasmosis (CT) in the State of Rio Grande do Sul, Brazil. The purpose of this paper was to estimate in a larger prospective study the prevalence of CT in the country. METHODS: At the beginning of the study, an in-house indirect enzyme immunoassay (EIA) was used, to be later replaced with a commercial capture IgM fluorometric enzyme immunoassay (FEIA). Both methods detect specific anti-Toxoplasma gondii IgM-class antibodies eluted from dried blood spots. RESULTS: Of the total of 140,914 samples received from all over the country, 47 cases were identified and confirmed as CT. This finding suggests a prevalence of 1 per 3000 live births. Of the 47 patients, only eight (17%) had clinical manifestations: two had intracranial calcifications, four had retinal scars, one had an intracranial calcification and retinal scars, and one had hepatosplenomegaly with lymphoadenopathy. The testing was paid for by the patients' families who volunteered for the study and gave their informed consent. CONCLUSION: The 3-year prospective study using sensitive detection methods, reliable confirmation, and feedback from clinicians showed that CT has an extraordinarily high prevalence in Brazil, in fact the highest ever reported in the world. Although the long-term efficacy of treatment of CT has not been well documented, in view of the availability of reliable diagnostics, confirmation and monitoring, functional logistics, and networking for screening, the insidious nature of the sequelae and the very high prevalence of the disease, neonatal screening for CT should be considered an alternative to no screening at all.

Animals↗
PubMed2000

Neonatal screening for sickle cell disease.

BACKGROUND: Sickle cell disease is an inherited disorder that occurs throughout the world with its highest incidence in areas of Africa where malaria is endemic. It affects up to one in 60 infants born in some areas of Africa. There are a number of potentially serious complications associated with the condition, and it is suggested that early treatment (before symptoms develop) can improve both morbidity and mortality. Screening for the condition in the neonatal period would enable early diagnosis and therefore early treatment. OBJECTIVES: To assess whether there is evidence that neonatal screening for sickle cell disease rather than symptomatic diagnosis reduces adverse short and long term outcomes for those in whom the disease is detected, without adverse outcomes in the population screened. SEARCH STRATEGY: We searched the Controlled Trials Register of the Cochrane Cystic Fibrosis and Genetic Disorders Group (See Group search strategy). Contact was made with experts in the field for any work as yet unpublished and reference lists of published studies were also searched. Date of the most recent search of the Group's specialised register: November 1999. SELECTION CRITERIA: Any randomised or pseudorandomised trial, published or unpublished comparing diagnosis by screening to clinical diagnosis would have been considered eligible for inclusion. DATA COLLECTION AND ANALYSIS: No trials of neonatal screening for sickle cell disease were found. MAIN RESULTS: No trials of neonatal screening for sickle cell disease were found. REVIEWER'S CONCLUSIONS: There is a lack of evidence from trials of neonatal screening for sickle cell disease. There is evidence of benefit from early treatment which is made possible by screening and there are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate. Health care providers must therefore assess whether the information provided by these documents is relevant to their practice and situation when making decisions regarding neonatal screening for sickle cell disease. Systematic reviews of early treatments/interventions, including penicillin prophylaxis, pneumococcal vaccine and parental education should be considered.

Anemia, Sickle Cell↗