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PubMed1996

Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.

OBJECTIVE: Comparative study of the incidence of classic 21-hydroxylase deficiency congenital adrenal hyperplasia (21ase-def CAH) and clinical findings of affected infants diagnosed via newborn screening versus case survey only in the Emilia-Romagna region of Italy. METHODS: Neonatal mass screening (from March 1980 to September 1983-Period A, and from March 1991 to August 1995-Period C) and case survey study (from 1980 to June 1995; case survey alone from October 1983 to February 1991--Period B) were performed by the Regional Referral Center for Neonatal Screening for Endocrine-Metabolic Disease with a laboratory (Central Laboratory, S. Orsola Hospital, Bologna) and clinical (First Pediatric Clinic, University of Bologna, S. Orsola Hospital, Bologna) component. A population-based sample of 420 960 newborns consecutively born in the Emilia-Romagna region from March 1980 to August 1995 were studied. Spot 17-OH-progesterone (nmol/L blood) was tested by the radioimmunoassay method after sample extraction during Period A and by fluoroimmunometric time resolved method without sample extraction during Period C. Serum 17-OH-progesterone (ng/dL or nmol/L) was tested by the radioimmunoassay method (Diagnostic Product Corporation Kit, Los Angeles, CA). The case survey was performed by means of a questionnaire sent to all regional centers dealing with pediatrics, neonatology, endocrinology, and pediatric surgery. RESULTS: Thirteen classic 21ase-def CAH were diagnosed by means of neonatal screening (combined A and C periods). One true and one questionable false-negative cases were identified. The incidence of classical 21-hydroxylase deficiency for the white population was 1:15 518 (95% confidence limits 1:9249-1:28 400) by neonatal screening plus case survey, 1:18 105 (95% confidence limits 1:10 365-1:35 041) by neonatal screening alone and 1:25 462 (95% confidence limits 1:12 925-1:59 043) by case survey alone. The sensitivity and specificity of screening for classic CAH were 83% and 99.8% for Period A and 90% and 99.2% for Period C, respectively. The percentage of salt-wasting forms and the male/female ratio were higher during the neonatal screening period than during the case survey only. Sixty-one percent of classic CAH patients benefited from a prompt diagnosis. Nonclassical 21ase-def CAH cases detected via screening and case survey were also reported. CONCLUSIONS: Even in a region with adequate neonatal services, clinical diagnosis alone of classic CAH might be delayed or misinterpreted and salt-wasting crises could cause neonatal deaths. CAH screening is thus an effective tool for diagnosing affected male infants without a family history of CAH and for preventing salt loss. However, to achieve maximal benefit from screening, quick procedures are necessary for notification of positive results and beginning prompt treatment. The possibility of false-negative cases indicates that clinical observation should never be abandoned, even with ongoing screening programs.

17-alpha-Hydroxyprogesterone↗
PubMed1994

Is universal neonatal hemoglobinopathy screening cost-effective?

OBJECTIVE: To determine whether and where universal neonatal screening for hemoglobinopathies, chiefly sickle-cell disease, could be performed at socially acceptable costs. METHODS: We made projections of the cost-effectiveness of nonuniversal and universal sickle-cell disease screening throughout the United States. We then compared the cost-effectiveness of universal sickle-cell disease screening with that of universal phenylketonuria screening. Finally, we asked if "high-cost" states, that is, those in which the cost of finding a case of sickle-cell disease exceeded one half the cost of finding a case of phenylketonuria, could enhance their cost-effectiveness by joining demographically complementary states in screening cooperatives. RESULTS: If all states conducted independent screening and if the value of finding a case of sickle-cell disease were no more than one half that of finding a case of phenylketonuria, seven of the 19 states that do not currently conduct universal screening for hemoglobinopathies would begin to do so, but six of the 34 that currently do so would stop. Of the six that would stop, three have already formed a screening cooperative, reducing their projected average costs for finding either sickle-cell disease or phenylketonuria or both; the other three could similarly improve cost-effectiveness through cooperative arrangements. Nineteen states realize economies of scale in six cooperative groups; more could do so. CONCLUSION: Universal neonatal hemoglobinopathy screening can be made available at socially acceptable costs to the citizens of demographically various states.

Cost-Benefit Analysis↗
PubMed1999

Controlling the quality of universal neonatal hearing screens.

The Health Technology Assessment Programme has recently reviewed the role of neonatal screening in the detection of congenital hearing impairment. The review recommends that the health visitors distraction screen, currently implemented in the second half of infancy, should be replaced by a national programme based around universal neonatal hearing screening. Such a programme has been implemented as a routine and established service in Whipps Cross Hospital in the East London district of Waltham Forest. This programme has reinforced the need to routinely monitor the screen processes and outcomes. The Whipps Cross audit undertaken over a 2 y period from January 1996 is detailed, as are the targets employed for evaluating the processes. The monitoring flagged up implementation problems, and allowed remedial intervention. Monitoring should be built into all the universal neonatal hearing programmes currently being planned in the UK.

Cohort Studies↗
PubMed1998

[Evaluation of a linear TEOAE protocol in hearing screening of neonates: feasibility study].

The audiological screening of newborns based on recording TEOAEs--the expression of anatomical-functional integrity of the cochlea--has unanimously gained importance. The prevalence of severe of genetic or congenital hearing loss in the healthy infant population and in the population at risk for audiological disorders, as well as the consequent psycholinguist and socialization problems such children have to deal with, have led the authors to set up a preliminary protocol for the audiological screening of neonates. The purpose of this protocol is to improve the feasibility of applying such a program. To this purpose, the preliminary protocol called for the recording of the TEOAE in both non linear (NL) and linear (L) modes. Examination was performed in 347 newborns (30% of all the children born during 1997) the second day of life and during spontaneous sleep. The ILO 92 was used for the screening. The results obtained with the two methods were statistically compared using the 9 parameters considered response indicators. Using the linear method of a function-window and improving the signal-to-noise ratio, the study showed a significant difference in the quality of the TEOAE using the linear method as compared with the non linear method, although this did not modify response reliability. This lead to the definition, through free distribution statistical analysis, of broader than normal criteria by which to evaluate the responses evoked with the L method. All this is aimed at increasing system specificity and reducing the number of false positives which feeds family anxiety.

Acoustic Stimulation↗
PubMed1996

Immunoradiometric and luminescence immunoenzymometric assay of human thyrotropin from dried blood spots for screening of neonatal hypothyroidism.

Two monoclonal antibodies to thyrotropin prepared in our laboratory were employed for the development of two-site immunometric assays in two modifications for the estimation of human thyrotropin in dried blood spots designed for the screening of neonatal hypothyroidism. The immunoradiometric assay using the second antibody labelled with 125I is simple and fast (one incubation step lasting 2 h). The detection limit of 1 mU/l and the absence of the hook effect up to a concentration of more than 1000 mU/l are optimal for neonatal screening; the presence of other glycoprotein hormones does not interfere with the assay. In the luminescence immunoenzymometric assay the second antibody is labelled with peroxidase. In spite of the two-step configuration the method is fast (4.5 h) and enables specific determination of thyrotropin levels in the range of 2.4-1100 mU/l. The conditions and properties of both immunometric assays described are comparable with the time-resolved immunofluorometric assay widely used in Europe.

Antibodies, Monoclonal↗
PubMed1994

Neonatal serologic screening and early treatment for congenital Toxoplasma gondii infection. The New England Regional Toxoplasma Working Group.

BACKGROUND: Most infants with congenital Toxoplasma gondii infection have no symptoms at birth, but many will have retinal disease or neurologic abnormalities later in life. Early detection and treatment of congenital toxoplasmosis may reduce these sequelae. METHODS: In Massachusetts since January 1986, and in New Hampshire since July 1988, newborns have been screened for intrauterine infection with T. gondii by means of an IgM capture immunoassay of blood specimens routinely collected for screening for metabolic disorders. Congenital infection is confirmed by assays for specific IgG and IgM antibodies in serum from infants and their mothers. For this study, infants with serologic evidence of infection underwent extensive clinical evaluation and received one year of treatment. RESULTS: Through June 1992, 100 of 635,000 infants tested had positive screening tests. Congenital infection was confirmed in 52 infants, 50 of whom were identified only through neonatal screening and not through initial clinical examination. However, after the serologic results became available, more detailed examinations revealed abnormalities of either the central nervous system or the retina in 19 of 48 infants evaluated (40 percent). After treatment, only 1 of 46 children had a neurologic deficit (hemiplegia attributable to a cerebral lesion present at birth). Thirty-nine treated children had follow-up ophthalmologic examinations when one to six years old; four (10 percent) had eye lesions that may have developed postnatally (a macular lesion in one child and minor retinal scars in three). CONCLUSIONS: Routine neonatal screening for toxoplasmosis identifies congenital infections that are subclinical, and early treatment may reduce the severe long-term sequelae.

Antibodies, Protozoan↗
PubMed1997

A critical review of the role of neonatal hearing screening in the detection of congenital hearing impairment.

BACKGROUND: This review was commissioned because of the increasing doubt about the ability of existing screening programmes (mainly the health visitor distraction test (HVDT) at 7-8 months) to identify children with congenital hearing impairment, and technological advances which have made neonatal hearing screening an alternative option. OBJECTIVES: To review the available literature on the screening of permanent childhood hearing impairment. To provide commissioners and providers of health care with information about how to deliver a more uniform service, better outcomes, and more cost-effective screening. To identify areas for further research and service development. HOW THE RESEARCH WAS CONDUCTED: The research involved a review of the available published and unpublished literature, and a comprehensive survey of current pre-school hearing screening provision in the UK coupled with a health economics study of hearing screening costs. The research also included a number of focus groups and visits to key centres in the UK and North America. RESEARCH FINDINGS: EPIDEMIOLOGY OF PERMANENT CHILDHOOD HEARING IMPAIRMENT: There are approximately 840 children a year born in the UK with significant permanent hearing impairment likely to affect their own and their family's quality of life. Present services will miss about 400 of these children by 1 1/2 years of age, and about 200 of these children by 3 1/2 years of age. Such late identification of hearing impairment greatly reduces the responsiveness of the services for individual children. EVIDENCE FOR IMPROVED OUTCOMES WITH EARLIER IDENTIFICATION: Hearing-impaired children identified late are at risk of substantial delay in their acquisition of language and communication skills, with consequent longer-term risk to education achievement, mental health and quality of life. Theoretical arguments on neural development support the limited evidence here for the increased benefit for child and family associated with very early identification. In general, parents and professionals want very early identification, which, if implemented properly, does not cause undue anxiety. CURRENT UK PRACTICE: The survey of current practice indicated a major problem with poor information systems. This problem was further highlighted as a major concern by the multi-disciplinary focus groups. Practice varies. There are two District-wide programmes in which all newborn babies are neonatally screened, a large number of ad hoc programmes for neonatal screening of 'at-risk' babies, a variety of early surveillance programmes, and widespread use of the HVDT. Intervention and habilitation for the majority of those screened neonatally is routinely undertaken within 6 months of birth. For those screened only by the health visitor, identification was on average at about 26 months of age with intervention at about 32 months on average. (ABSTRACT TRUNCATED)

Child, Preschool↗
PubMed2005

Universal neonatal hearing screening versus selective screening as part of the management of childhood deafness.

BACKGROUND: The principal factors that decide how deafness affects a child's development are the degree of hearing impairment and the age at which it is diagnosed. A number of factors are thought to increase the risk of hearing impairment: low birth weight, prematurity, perinatal hypoxia and jaundice, among others. The high incidence of deafness in children without risk factors and the introduction of simple new screening tests of high sensitivity and specificity has led many prestigious bodies to recommend universal early detection programmes for deafness rather than screening targeted only at high-risk groups. OBJECTIVES: To compare the long-term effectiveness of a universal neonatal screening and early treatment programme for hearing impairment with: a) screening and treatment only of high-risk neonates and b) opportunistic screening and treatment. SEARCH STRATEGY: Databases searched were MEDLINE (1966 to 2003), EMBASE (1974 to 2003), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library Issue 1, 2004) and registers of health technology assessment agencies as well as registers of clinical guidelines. SELECTION CRITERIA: Randomised controlled trials comparing universal neonatal screening with either high-risk screening or opportunistic screening for hearing impairment. DATA COLLECTION AND ANALYSIS: Two review authors independently screened the search results to identify suitable trials. MAIN RESULTS: No studies were identified which fulfilled the inclusion criteria. AUTHORS' CONCLUSIONS: The long-term effectiveness of universal newborn hearing screening programmes has not been established to date. There is a need for controlled trials and before and after studies to address this issue further.

Deafness↗
PubMed1981

Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979.

In Sweden, neonatal screening for phenylketonuria was started in 1965 and a total of 1 326 000 infants were studied up to 1979. During various periods of time, screening was also carried out for galactosaemia, hereditary tyrosinaemia, histidinaemia, and homocystinuria. In screening for phenylketonuria and galactosaemia no false-negative results were obtained and the incidences were 1/30 850 and 1/81 100, respectively. In screening for hereditary tyrosinaemia only 1 out of 6 patients was identified by screening and the incidence was 1/106 710. Two cases of histidinaemia were detected, which corresponds to an incidence of 1/36 840. Both children developed normally without any treatment. No child with homocystinuria was detected in the screened population of more than 300 000 newborn infants. A screening programme involving phenylketonuria and galactosaemia was considered to be optimal among the tested disorders.

Evaluation Studies as Topic↗
PubMed2001

Evaluation of neonatal sepsis screening in a tropical area Part III: Neonatal sepsis in meconium stained deliveries.

Of the 6,060 consecutive live births delivered at the University Maternity Unit of Guadeloupe (French West Indies) during a 30-month period, 635 newborns (10.4%) presented with meconium stained (MS) amniotic fluid, of which 595 (94%) received bacteriological screening at birth (light MS, n = 543; thick MS, n = 52). Thirty (5%) of MS newborns had a bacteraemia (n = 13, group B streptococcus, GBS), and 128 (21.5%) a bacterial positive gastric aspirate (n = 54, GBS). Sixty-six newborns among MS babies needed tracheal suctioning (11%) in the delivery room for meconium inhalation. Among these 595 screened MS newborns, 286 (48%) presented clinical signs of postmaturity at birth, having therefore an explanation for their MS condition. For the other MS newborns without the postmaturity explanation, we experienced twofold increased risk of neonatal sepsis (OR 1.88 for bacteraemia and 2.61 for external carriage p < 0.02, Chi square) as compared with their MS postmature counterparts. We conclude that when meconium stained deliveries are associated with postmaturity signs, one may not need to initiate prophylactic antibiotic treatment at birth unless they present with other traditional risk factors for neonatal sepsis such as intrapartum fever and prolonged rupture of membranes.

Humans↗
PubMed1992

Screening for cystic fibrosis.

Neonatal screening for cystic fibrosis (CF) reduces short-term morbidity but its long term effects remain to be demonstrated. The best available method is the assay of immunoreactive trypsin in dried blood spots, and specificity can be improved by adding direct or indirect genetic analysis. Pregnancies known to be at risk of CF can also be screened by molecular methods, and affected pregnancies terminated. The application of genetic testing to whole communities, to detect unknown heterozygotes, raises many questions which require consideration by society and the health professions. The development of effective treatment of the basic abnormality of cell function in CF would enhance the need for neonatal screening, and possibly reduce the requirement for abortion.

Cystic Fibrosis↗
PubMed2002

Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening.

Two cases of benign methylmalonic aciduria (MMAuria) were found among 9780 neonatal screenings using the previously described screening method consisting of urease digestion, ethanol deproteinization and gas chromatography-mass spectrometry. Combining this screening method with the stable isotope dilution technique showed very specific and sensitive measurements of methylmalonic acid in urine. The concentrations of urinary methylmalonic acid were measured at several ages. The levels of urinary methylmalonic acid in two patients varied from 0.27 to 3.04 mol/mol creatinine (control<0.01 mol/mol creatinine). Methylcitrate and homocystine were not increased in the patient's urine or blood. Blood propionylcarnitine was also at normal levels. The urinary methylmalonate excretions were decreased to the levels of about 50% of the start point after vitamin B12 treatment in one patient, but the other patient showed no change. No clinical abnormalities were observed during these periods.

Female↗
PubMed1995

Prenatal screening for group B Streptococcus. II. Impact of antepartum screening and prophylaxis on neonatal care.

OBJECTIVES: Our purpose was to evaluate the current practice of antimicrobial prophylaxis of preterm and low-birth-weight infants and to determine the impact of intrapartum fever, group B Streptococcus carriage, intrapartum antimicrobial therapy, and duration of membrane rupture on neonatal therapy. STUDY DESIGN: A total of 1356 members of the American Academy of Pediatrics were asked their practice regarding neonatal screening and antimicrobial prophylaxis. Respondents were asked to define how maternal fever, group B Streptococcus carriage, intrapartum antimicrobial therapy, and prolonged membrane rupture would affect their decisions regarding neonatal therapy. RESULTS: A total of 982 responses were obtained (72.4%). Routine antimicrobial prophylaxis is given to asymptomatic preterm neonates by 33.7% of pediatricians. Prophylaxis is inconsistently given at 32 to 36 weeks but is nearly universal after intrapartum fever, regardless of intrapartum therapy. If empiric intrapartum prophylaxis was given before a preterm birth, both the incidence (47.1% vs 29.1%) and frequency of prolonged neonatal therapy (30.1% vs 17.4% > or = 7 days) would be increased. Knowledge of maternal group B Streptococcus carriage would lead to a 2.6-fold increase in treatment (75.1% vs 29.1%) and 1.8-fold increase in the incidence of prolonged therapy of preterm infants (30.9% vs 17.4%), with 45.3% giving antibiotics for > or = 1 week if intrapartum treatment had been instituted. Surprisingly, 18% of pediatricians would treat term neonates without any risk factors other than maternal group B streptococcal carriage, and 32.7% would continue treatment for > or = 7 days. The majority of pediatricians (82.6%) felt that intrapartum prophylaxis would reduce early-onset group B streptococcal sepsis, but only 46.0% felt overall neonatal sepsis would be decreased by such therapy. CONCLUSIONS: Antepartum screening and intrapartum prophylaxis against group B Streptococcus by obstetricians may lead to an increased incidence and duration of treatment of preterm and term neonates by the pediatrician. The efficacy, cost, and risk of such treatment in broadly applied screening and treatment programs should be considered before a standard of care is established.

Antibiotic Prophylaxis↗
PubMed2005

[Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province].

OBJECTIVE: Diagnosing congenital hypothyroidism (CH) early was studied in this paper through neonatal screening to prevent children's mental retardation. METHODS: The first step is mensurating the concentration of thyroid stimulating hormone (TSH) with the method of time-distinguished fluorometry immunoassay. If the result is positive, then it is necessary to mensurate the serum TSH, free triiodothyronine (FT3),free thyroxin (FT4) with chemiluminescence immunoassay (CLIA) and execute clinical diagnosis. RESULTS: There were 68 confirmed congenital hypothyroidism patients among the 106,224 samples from Apr.1997 to Dec.2003 in Hunan province. The positive rate was 1/1,562, which was obviously higher than the national average value (1/3,009). CONCLUSION: First, neonatal screening is the key to prevent mental retardation through early diagnosing and treating CH. Second, the probability of suffering CH is high in Hunan province. Third, the positive rate is relative to the development of science and technology, while the accumulated rate is better to reflect the real incidence of the disease. Fourth, selecting proper critical value will help to prevent missing screening.

China↗
PubMedDate not supplied

Maternal worry about neonatal hearing screening.

OBJECTIVE: To identify and compare the prevalence and degree of maternal worry about neonatal hearing screening at the time of an initial neonatal hearing screen and rescreen in 1997 and 1999. STUDY DESIGN: We report on a prospective cross-sectional investigation of maternal worry about newborn hearing screening. Demographic data, maternal knowledge of hearing screening, and degree of maternal worry were collected on 307 mothers at the time of the neonatal screen and 40 mothers at the time of the rescreen. RESULTS: Degree of maternal worry was significantly greater at the rescreen compared to the screen. Mothers who reported greater worry at the time of the screen were more likely to be socioeconomically disadvantaged. Although maternal knowledge about hearing screening increased between the two time periods, degree of worry remained unchanged. CONCLUSION: Efforts to minimize the neonatal false-positive hearing screen rates and to educate mothers about hearing screening are indicated to minimize unnecessary worry.

Anxiety↗
PubMed2002

[A combined neonatal hearing screening protocol].

OBJECTIVE: To analyze a neonatal hearing screening protocol with transient evoked otoacoustic emissions (OAE) and auditory brainstem response (ABR). PATIENTS AND METHODS: We studied 1,532 newborns with a protocol using transient evoked otoacoustic emissions and auditory brainstem response. We also evaluated auditory development until twelve months of age with quarterly questionnaires. RESULTS: A total of 1,485 (97 %) newborns had normal OAE, 185 (12 %) were referred for ABR exploration and only 11 (0.7 %) were referred to the otorhinolaryngology service for auditory study and diagnosis. Four neonates had auditory disjunction. No false negatives were detected in the follow-up. CONCLUSIONS: This hearing screening protocol with OEA and ABR is useful for detecting hearing loss in neonates. The prevalence of hearing loss in this study was 2.6 % of live newborns.

Evoked Potentials, Auditory, Brain Stem↗
PubMed2000

Neonatal hearing screening using the auditory brainstem response.

A targeted screen of babies at risk of having a sensorineural hearing loss (SNHL) using the auditory brainstem response has been in place since 1987 in Bradford and Airedale. The aims of this paper were to ascertain what proportion of a 4-year cohort of children with SNHL should have been identified by the programme; was identified by the programme; and the reasons for failing when children were missed. The cohort of 49 children had moderate to profound SNHL (> 50 dB) and were born between 1 April 1991 and 31 March 1995. Although 92% had at risk factors (higher than in other series), 80% was the maximum that could have been prospectively detected by the programme and only 37% were actually diagnosed as a result of the screening programme. Apart from a generalised under-recruitment, children with risk factors arising because of in utero, perinatal and postnatal events (as opposed to family history, craniofacial abnormalities and syndromes) tended to be missed (P < 0.01). The overall yield of the screening programme was 0.5/1000/year. While the yield of a universal neonatal screening programme based on otoacoustic emissions should be double this, a targeted infant distraction test later in infancy will be an essential backup. Improved liaison with paediatricians in particular as well as simplification of the referral criteria should improve targeting children at risk.

Cohort Studies↗