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PubMed1975

Galactosaemia: estimated live birth incidence in New Zealand.

194 cord blood samples were studied in both a fluorimetric assay and an electrophoresis method for Gal-1-PUT. From this the expected live birth incidence was 1:37000. The New Zealand neonatal screening programme has detected 5 cases in 223326 live births--an apparent incidence of 1:44600. The Beutler testing of dried blood spots collected on filter paper cards is a satisfactory method of detecting galactosaemia in the neonate.

Fetal Blood↗
PubMed1998

Prevention of overtreatment of neonatal hip dysplasia by the use of ultrasonography.

The use of sonography for the neonatal screening of developmental dysplasia of the hip (DDH) results in the overdiagnosis of this entity. In 1994, we examined sonographically and clinically 8,642 hips belonging to 4,321 neonates and found 8,150 hips clinically and sonographically normal, 398 stable but with various sonographic pathology, and 81 unstable with a variety of sonographic pathology. Using an algorithm we proposed for follow-up, and treatment if necessary, we found that 90.4% of hip joints with DDH were spared unnecessary overtreatment.

Algorithms↗
PubMed2000

[Youth Health Care Services guideline 'Early screening for hearing impairment, 0-19 years'].

The Youth Health Care guideline 'Early screening for hearing impairment, ages 0-19 years' draws the attention of all parties involved to the case finding of, notably, perceptive hearing loss; it helps workers in the Youth Health Care argue their referrals and improve the next steps in the process. Referrals always aim at ruling out perceptive hearing impairment. It is essential to diagnose and subsequently treat children with perceptive hearing impairment. It is important to keep track of the process after the referral. Screening methods are the Ewing test, the 'Compacte Amsterdamse paedo-audiometrische screener' (CAPAS) test and audiograms. Each age category has groups at risk for hearing impairment. Problems in neonates are a low specificity of the Ewing/CAPAS tests, treatment of middle ear disease without ruling out perceptive hearing impairment and absence of interdisciplinary agreements regarding the steps to be taken and the necessary feedback. Children with perceptive hearing loss should be diagnosed before 18 months of age. In the near future neonatal screening may detect congenital perceptive hearing impairment, but hearing impairment may still develop after the screening. Alertness with respect to hearing impairment will remain necessary in every consultation of a child.

Adolescent↗
PubMed2000

Environmental releases of radioactivity and the incidence of thyroid disease at the Ignalina Nuclear Power Plant.

The Ignalina Nuclear Power Plant consists of two Russian-made RBMK-1500 reactors. The plant uses Lake Druksiai as a natural reservoir for cooling water. Within the framework of the revised radiation dose limitation system, site-specific routine release conversion factors and maximum annual effective doses for the dominant radionuclides and pathways were evaluated for both atmospheric and aquatic releases. Using calculated release conversion factors, the locations of the highest predicted activity concentrations were determined for air and for the dilution zone of heated effluent water during the period 1984-1998. Committed effective doses for critical group members were less than 0.001 mSv for Ignalina Nuclear Power Plant airborne releases and less than 0.05 mSv for aquatic releases. These dose estimates are lower than the 1 mSv dose limit for the adjacent population. In the case of Ignalina Nuclear Power Plant, taking into account the uncertainties, a recommendation for the administrative dose constraint is 0.25 mSv y(-1). This dose level may scarcely affect human health. Interestingly, during screening for thyroid disorders, endocrinologists and pediatric-endocrinologists determined a dominance of abnormal thyroids (up to 60%) among school children in the vicinity of Ignalina NPP. The data on neonatal screening for congenital hypothyroidism and transient hyperthyrotropinemia, however, suggested a possibility that the majority of abnormal thyroid cases were related to stable iodine deficiency. Thus, the influence of Ignalina Nuclear Power Plant on thyroid disorders is highly conjectural and unlikely to be associated with the observed levels of childhood thyroid disease.

Adult↗
PubMed1989

Congenital hypothyroidism.

This paper presents a case report of congenital hypothyroidism that illustrates some of the issues in screening for this disorder. Congenital hypothyroidism has several causes, the most common of which is thyroid dysgenesis. Most affected infants have no historical clues or physical findings to suggest diagnosis. Neonatal screening combining thyroxine and thyrotropin screening have resulted in increased detection, although false-negatives do occur, and the physician must carefully observe all newborns for the findings of congenital hypothyroidism. Early treatment improves the prognosis considerably. This paper reviews the pathophysiology, diagnosis, and treatment of congenital hypothyroidism.

Congenital Hypothyroidism↗
PubMed2000

[Sporadic primary hypothyroidism in children yesterday and today].

The evolution of congenital primary hypothyroidism has extremely capitalized on early L-T4 substitutive therapy, as a result of neonatal screening techniques, that allow early diagnosis. However, IQ and neurodevelopment of patients diagnosed and treated in this manner are yet quite different from those normal controls. Latest efforts to achieve precocious neonatal diagnosis have led to earlier initiation of treatments. These circumstances, in addition to the use of higher L-T4 doses (between 10 and 15 micrograms/Kg/day) have permitted to improve clinical responses, in terms of QI and neurodevelopment. Still concern remains about the potential late side effects of high L-T4 doses, that could promote conduct and behavior alterations in these patients in the coming years; in this regard, some suspicions have been shown.

Adolescent↗
PubMed1993

Failures of screening and management of congenital dislocation of the hip.

We report the screening of 67,093 infants for congenital dislocation of the hip from 1980 to 1989 and compare the results with those during the preceding two decades. More dislocations have been missed at neonatal examination during the last decade (0.13% of live births). Operative treatment was needed in 54 children (0.08% of live births) some of whom had been diagnosed at birth. We discuss the reasons for the failure of neonatal screening.

Female↗
PubMedDate not supplied

Newborn genetic screening: ethical and social considerations for the nineties.

As we head into the next decade, the impact of the use of genetic screening programs for immunological surveillance purposes (such as for HIV) and for possible DNA typing should not be underestimated. The authors present ten principles which seek to reaffirm the basic tenents of neonatal screening programs -- the benefit of newborns. These principles are both protective and yet open to the complex ethical and social considerations raised by such new uses of newborn genetic screening programs.

Coercion↗
PubMed1997

Progressive and fluctuating sensorineural hearing loss in children with asymptomatic congenital cytomegalovirus infection.

OBJECTIVE: To determine the prevalence and temporal changes of sensorineural hearing loss (SNHL) among children with clinically inapparent (asymptomatic) congenital cytomegalovirus (CMV) infection identified from a cohort of newborn infants screened for congenital CMV infection. METHODS: The study population consisted of 307 children with documented asymptomatic congenital CMV infection, 76 uninfected siblings of children with asymptomatic congenital CMV infection, and 201 children whose neonatal screen for congenital CMV infection showed negative results. Audiologic evaluations were completed for all children to determine their hearing status. RESULTS: SNHL occurred only in children with congenital CMV infection. Of the children with asymptomatic congenital CMV infection, 22 (7.2%; 95% confidence interval, 4.5% to 10.6%) had SNHL. Among the children with hearing loss, further deterioration of hearing occurred in 50.0%, with the median age at first progression at 18 months (range, 2 to 70 months). Delayed-onset SNHL was observed in 18.2% of the children, with the median age of detection at 27 months (range, 25 to 62 months). Fluctuating SNHL was documented in 22.7% of the children with hearing loss. CONCLUSIONS: Asymptomatic congenital CMV infection is likely a leading cause of SNHL in young children. The continued deterioration of hearing and delayed onset of SNHL in these children emphasizes the need for continued monitoring of their hearing status.

Age of Onset↗
PubMed1987

Variables affecting apolipoprotein B measurements in 3- to 5-day-old babies: a study of 4491 neonates.

To investigate the feasibility of establishing a neonatal screening program for familial type II hypercholesterolemia, we assayed apolipoprotein B (Apo B), using a radial immunodiffusion assay, in dried blood spot samples from 4491 consecutively born, 3- to 5-day-old neonates. We explored factors influencing levels at the time of sampling and factors associated with the handling of the dried blood spot samples before assay which could affect the assayed value. Assayed Apo B levels were distributed continuously and decreased with increasing delay and temperature of storage of the samples before assay. Female neonates had significantly higher mean Apo B levels than males (p less than 0.0001), with their respective means +/- SD being 0.246 +/- 0.085 g/liter (n = 2086) and 0.225 +/- 0.079 g/liter of whole blood (n = 2390). In both sexes mean Apo B levels were significantly lower in low birth weight (less than or equal to 2.5 kg) and in low gestational age (less than or equal to 36 wk) neonates. For neonates with birth weight greater than 2.5 kg and gestational age more than 36 wk, Apo B levels increased with increasing birth weight and gestational age. Sex, birth weight, and gestational age could account for 5.7% of the variability of Apo B. After adjustments for these variables, the neonate's age at sampling did not influence Apo B levels significantly. Apo B levels were not affected by different dietary regimens, whether breast-fed, formula-fed, or breast-fed with formula complement.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗
PubMed2005

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study, based on information from original studies on the results with respect to detected significant anomalies (yield) of six major diagnostic investigations, and evaluate whether the yield differs depending on setting, MR severity, and gender. Results for cytogenetic studies showed the mean yield of chromosome aberrations in classical cytogenetics to be 9.5% (variation: 5.4% in school populations to 13.3% in institute populations; 4.1% in borderline-mild MR to 13.3% in moderate-profound MR; more frequent structural anomalies in females). The median yield of subtelomeric studies was 4.4% (also showing female predominance). For fragile X screening, yields were 5.4% (cytogenetic studies) and 2.0% (molecular studies) (higher yield in moderate-profound MR; checklist use useful). In metabolic investigations, the mean yield of all studies was 1.0% (results depending on neonatal screening programmes; in individual populations higher yield for specific metabolic disorders). Studies on neurological examination all showed a high yield (mean 42.9%; irrespective of setting, degree of MR, and gender). The yield of neuroimaging studies for abnormalities was 30.0% (higher yield if performed on an indicated basis) and the yield for finding a diagnosis based on neuroradiological studies only was 1.3% (no data available on value of negative findings). A very high yield was found for dysmorphologic examination (variation 39-81%). The data from this review allow conclusions for most types of diagnostic investigations in MR patients. Recommendations for further studies are provided.

Chromosome Aberrations↗
PubMed1996

Neonatal rotavirus infection in Bangladesh: strain characterization and risk factors for nosocomial infection.

BACKGROUND: Rotavirus (RV) diarrhea is an important cause of childhood morbidity and mortality in Bangladesh and is responsible for 24% of hospital admissions for diarrhea in children from 3 months to 2 years of age. However, the prevalence of neonatal RV infections and characteristics of RV strains infecting neonates have not been explored in Bangladesh. METHODS: We investigated neonates at six hospitals in Bangladesh to determine the prevalence of neonatal RV infection, to identify risk factors for infection and to characterize neonatal RV strains by reverse transcription-polymerase chain reaction. RESULTS: Of 381 neonates screened at 6 hospitals 61 of 146 infants (42%) at 2 hospitals in Dhaka were RV-positive. Of these 62% were detected within the first 5 days of life. We found an increased risk for neonatal RV infection among infants whose mothers reported no handwashing during care of the neonate (P = 0.03). Analysis of RV strains in enzyme-linked immunosorbent assay-positive specimens identified P[6]G4 and P[6]G1 genotypes to be most common; 7% (2 of 27) of strains were nontypable. A concurrent analysis of RV strains circulating in Bangladesh suggested that RV genotypes infecting neonates had a distinct P genotype, because most community strains were P-nontypable compared with neonatal strains, which carried the P[6] genotype. CONCLUSIONS: Hospitalized neonates in Dhaka have increased risk for infection with RV as early as the first week of life with strains having the unusual P[6] genotype. Our findings confirm studies in India showing that neonatal RV infection can be common and may occur with strains distinct from those circulating in the community. Neonatal RV infections could alter a child's response to the RV vaccine as well as the calculation of RV vaccine efficacy in these populations.

Bangladesh↗
PubMed2003

The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases.

This article describes a generic model for access to samples and information in human genetic databases. The model utilises a "GeneTrustee", a third-party intermediary independent of the subjects and of the investigators or database custodians. The GeneTrustee model has been implemented successfully in various community genetics screening programs and has facilitated research access to genetic databases while protecting the privacy and confidentiality of research subjects. The GeneTrustee model could also be applied to various types of non-conventional genetic databases, including neonatal screening Guthrie card collections, and to forensic DNA samples.

Confidentiality↗
PubMedDate not supplied

A qualitative assessment of biotinidase deficiency.

Screening programs for late-onset, biotin-responsive, multiple carboxylase deficiency (LMCD) detect colormetrically the presence of biotinidase activity in dried samples of whole-blood spotted on filter-papers as used in the neonatal screening of phenylketonuria. A sensitive and stable qualitative technique is described using 10 microliter of serum that avoids problems associated with poor sample collection, improper drying of blood-spots and transient color development. The modified assay is timely and suitable for the clinical laboratory not involved in mass screening programs.

4-Aminobenzoic Acid↗
PubMed1977

A simple score to facilitate detection of congenital disorders.

A simple score has been constructed to facilitate the selection of apparently normal newborns at risk or hidden congenital disorders. Components of the score are family history of previous malformations, stillbirth or infantile death of unknown origin, intrauterine growth retardation (2 points each), and six minor malformations: antimongoloid palpebral slant, hypertelorism, preauricular fistula, simian crease, mammillary and hallucal abnormality (1 point each). Out of 1000 consecutive neonates screened with the method 28 scored 3 or more, in 6 of whom hidden congenital abnormalities were discovered at later reexamination. At the same time only 2 hidden defects were found in the children with a neonatal score of 2 or less. Although the follow-up was incomplete, the results suggest that the score is useful in selecting infants for more complicated clinical and genetic investigations.

Biliary Tract↗
PubMed2002

Neonatal septicaemia in Ilorin: bacterial pathogens and antibiotic sensitivity pattern.

All cases of septicemia among neonates admitted to the neonatal intensive care unit of the University of Ilorin Teaching Hospital, Ilorin, Nigeria between Jan 1995 and Dec 1996 were studied. Our aims were (1) to assess the incidence and microbial epidemiology of neonatal sepsis, (2) to generate baseline data and necessary research question for a proposed study on predictors of neonatal sepsis in our centre. Microbiology records of patients with confirmed septicemia was reviewed. Each of these babies had a single venous blood sample from a peripheral vein taken under aseptic conditions and before commencement of antibiotics. The needed data were entered into a proforma. Of the 198 neonates screened for sepsis, there were 61 (30.8%) positive blood cultures. Twenty-nine (48%) of these were inborn. The total number of live births in the hospital during the study period was 4118, thus giving a hospital-based incidence of neonatal sepsis of 7.04/1000 for in-born patients. The male:female ratio was 1.2:1. Overall Staphylococcus aureus was the commonest pathogen, accounting for 18 (29.5%) of the total isolates. Other pathogens were as follows; coagulase negative Saphylococcus albus 15 (24.6%), Klebsiella spp 10 (16.4%) and unclassified Coliforms 9 (14.8%). The predominant organisms in the first 48 hours were Gram negative bacilli; accounting for (70%) of the 10 isolates. Between 3 and 7 days of life the Gram positive cocci accounted for 12 (60%) of the 20 isolates while the Gram negative bacilli represented 40%. After 7 days, the predominant organism was Staphylococcus aureus (38.8%) while coagulase-negative Staphylococci were isolated in 7 of 31 isolates (22.6%). The sensitivity pattern showed that 94% of the organisms were sensitive to azythromicin, 77.8% to streptomycin, 73.3% to gentamicin and 69.2% to ampicillin-sulbactam. For the cephalosporins the isolates showed a sensitivity rate of 69% to ceftriaxone, 66.7% to ceftazidime and 58.3% to cefuroxime. As a group the Gram positive organisms had 100% sensitivity to Azythromcin, 85% to ampicillin-sulbactam, 63% to ceftazidime and 62.5% to gentamicin. In the Gram negative group, the best overall sensitivity was to ceftriaxone (86.4%). Gentamicin had 85.7% while sensitivity to ceftazidime was 60%. The distribution of the organisms causing early and late onset sepsis were different. For early onset sepsis, the Gram negative bacilli as a group were the commonest organisms while Staphylococcus aureus was the commonest cause of late onset sepsis. There was a lower incidence of sepsis compared to reports from other parts of the country. This, in addition to differences in antibiotic sensitivity pattern call for more multi-centre studies on predictors of neonatal sepsis. The antibiotic sensitivity profiles suggest that the initial empirical choice of ampicillin-sulbactam and gentamicin appears to be the most rational for our environment.

Anti-Bacterial Agents↗
PubMed1980

[Neonatal intestinal obstruction due to congenital hypothyroidism (author's transl)].

Three children with subacute neonatal intestinal obstruction are described in whom the diagnosis of congenital megacolon was suspected. The radiological changes improved when oral feeding stopped but reappeared when it was restarted. The aetiology remained unrecognised until the results of the neonatal screening for hypothyroidism showed all three cases had congenital hypothyroidism. The severity of the disorders was unusual and remains unexplained. Systemic TSH and/or T4 determinations should lead to a better understanding of the disorders due to hyperthyroidism in neonates.

Congenital Hypothyroidism↗
PubMed2002

[Measurement of evoked acoustic otoemissions: an early screening test of neonatal deafness].

Every child born with deafness displays a pathological language development. An early and specific approach is mandatory, hence requiring an universal hearing screening. Available evidence indicate that performing acoustic otoemissions prior to six months of age is the most reliable method. The recording of the AOE is performed successfully from the 30th week of conceptual age. To obtain AOE in the newborn, one needs to wait until the 3rd day post delivery in 98% of cases. The reliability of the test, the socio-economical cost, the consequences of the screening and the role of the family have to be discussed.

Deafness↗