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PubMed2001

Comparison of neonatal hearing screening devices.

Incidence studies estimate that 1-3 per 1000 full term normal neonates and 2-4% of high-risk newborns per 100 have severe bilateral hearing loss. In response, universal hearing screening has been proposed; however, choosing the most appropriate technology continues to be an obstacle. The purpose of the current preliminary study was to compare test results from thirty-two full-term newborns using three types of screening devices, Natus Algo 2 AABR, Otodynamics EchoCheck TEE, and Biologic AuDx DPE. Results indicate that the Natus had the highest pass percentage rate for the right and left ears at 97% and 91% respectively, while the other two devices had pass percentage rates between 31% and 56%. Test duration time for the Natus was 22.5 minutes compared with 5.8-6.4 minutes for the other devices. Despite the longer duration time, our findings favor using the Natus, given its accurate representation of incidence data.

Audiometry, Evoked Response↗
PubMed1978

[Screening for neonatal hypothyroidism? Results of an international questionnaire study (author's transl)].

Questionnaires were sent to 23 centres in ten countries. Results indicate that, for ethical, scientific, clinical and socio-economic reasons, screening for neonatal hypothyroidism should be undertaken. Pilot studies are no longer required. Distribution of the birth-rate in the various lands of the German Federal Republic suggest that, assuming appropriate technical and staffing provision, ten centres with a sample rate of 200/day would be sufficient for full screening. Because of special features in quality control of radioimmunochemical methods, a uniform manner of setting up the necessary laboratories is essential.

Congenital Hypothyroidism↗
PubMed1998

Congenital hypothyroidism in Wales (1982-1993): demographic features, clinical presentation and effects on early neurodevelopment.

OBJECTIVE: Neonatal screening for congenital hypothyroidism (CH) was introduced in Wales in 1982. The aim of the study was to evaluate the demographic features and characteristics of infants identified during the first 12 years of screening and their neurodevelopmental progress in the first 2 years of life. DESIGN: Prospective collection of biochemical and clinical data (including results of Griffiths Mental Development Scales) obtained from questionnaires sent to paediatricians responsible for the ongoing clinical care of children with CH. PATIENTS: In Wales, between 1982 and 1993, 136 infants with primary congenital hypothyroidism (CH) were identified by the neonatal screening programme. RESULTS: Of all new-borns, 99.8% were screened and the prevalence of CH was 1 in 3279 (1 in 2473 girls and 1 in 4770 boys). The prevalence of CH was increased in North Wales. CH was associated with increased birth weight (48.5% of infants weighed greater than 3.5 kg) and an increased prevalence of non-thyroidal congenital abnormalities (8%) and congenital heart disease (3%). Isotope scanning demonstrated an increased prevalence of normal or enlarged thyroid glands and fewer ectopic glands compared to those reported in other studies. The mean developmental quotients (DQs) for individual subsets of intellectual and behavioural functioning in children with CH aged 1 and 2 years were all above 100 (range: 103.5-111.9). In subjects with absent thyroids, these DQs were correlated with the serum concentrations of free thyroxine before treatment. CONCLUSIONS: The demographic features of infants with congenital hypothyroidism born in Wales are similar to those reported from other European studies although there are marked regional variations in prevalence within Wales for which there is no apparent explanation. The median age of starting therapy was 17 days and compares favourably with other screening programmes. The overall mental development of Welsh children aged 1 and 2 years with congenital hypothyroidism identified by neonatal screening is satisfactory.

Congenital Abnormalities↗
PubMed1995

Coverage of routine neonatal metabolic screening in children born to women known to be infected with HIV-1.

Unlinked anonymous HIV-1 testing of neonatal samples routinely collected for metabolic screening is now carried out in many parts of the United Kingdom. The purpose of this study was to assess the completeness of screening coverage in infants born to women known to be infected with HIV-1. Research nurses at family HIV clinics in three London hospitals searched for Guthrie cards from all infants born to known infected residents of North East, North West, and South West Thames regions over a 32 month period. If no card was found initially, mothers were approached for more information. Overall coverage was estimated to be 96.4% (94.6% in infants of African origin and 100% in white infants). These figures are similar to recent general population coverage estimates in inner London. We conclude that the anonymous newborn HIV testing programme is providing sufficiently accurate information on both absolute levels and time trends in maternal seroprevalence.

Africa↗
PubMed1989

Effect of thyroid hormone level on temperament in infants with congenital hypothyroidism detected by screening of neonates.

To determine the effect of congenital hypothyroidism and its treatment on infant behavior, we assessed temperament in 50 six-month-old infants with congenital hypothyroidism detected by means of screening of neonates. Intelligence and temperament were also evaluated at 12, 18, 24, and 36 months. More of these children were classified as "difficult" than children in the nonhypothyroid standardization sample. Temperamental difficulty was associated with increased nervous system sensitivity, reflecting more intense responses and a lower threshold of response to external stimulation. Greater temperamental difficulty was found to persist until at least age 2 years of age and to be associated with higher circulating triiodothyronine and thyroxine levels between 1 and 3 months of age. Our results suggest that behavioral features should be considered, as well as circulating hormone levels, in determining the proper dose of thyroid hormone replacement in infants with congenital hypothyroidism.

Congenital Hypothyroidism↗
PubMed1985

Comparison of auditory brainstem response and behavioral screening in neonates.

This paper reports on two studies, one in Halifax and the other in Ottawa, which compared behavioral methods and BERA in the screening of hearing loss in neonates. The Halifax study used BERA as the screening procedure for infants of a neonatal intensive care unit (NICU) and as a supplementary procedure to behavioral screening test for non-NICU but "at risk" infants. The results of this study indicate false positive rates with the behavioral test of 86.1 and 50.5% for NICU and at risk groups respectively. The Ottawa study evaluated the Crib-o-gram as a screening test for NICU infants using BERA as the standard. The results of this study indicated that approximately one third of babies with normal BERA thresholds failed Crib-o-gram screening and that Crib-o-gram could identify moderately/severe losses.

Acoustic Stimulation↗
PubMed2005

Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?

BACKGROUND: Genetic testing can determine those at risk for hereditary haemochromatosis (HH) caused by HFE mutations before the onset of symptoms. However, there is no optimum screening strategy, mainly owing to the variable penetrance in those who are homozygous for the HFE Cys282Tyr (C282Y) mutation. The objective of this study was to identify the majority of individuals at serious risk of developing HFE haemochromatosis before they developed life threatening complications. METHODS: We first estimated the therapeutic penetrance of the C282Y mutation in people living in la Somme, France, using genetic, demographic, biochemical, and follow up data. We examined the benefits of neonatal screening on the basis of increased risk to relatives of newborns carrying one or two copies of the C282Y mutation. Between 1999 and 2002, we screened 7038 newborns from two maternity hospitals in the north of France for the C282Y and His63Asp (H63D) mutations in the HFE gene, using bloodspots collected on Guthrie cards. Family studies and genetic counselling were undertaken, based on the results of the baby's genotype. FINDINGS: In la Somme, we found that 24% of the adults homozygous for the C282Y mutation required at least 5 g iron to be removed to restore normal iron parameters (that is, the therapeutic penetrance). In the reverse cascade screening study, we identified 19 C282Y homozygotes (1/370), 491 heterozygotes (1/14) and 166 compound heterozygotes (1/42) in 7038 newborns tested. The reverse cascade screening strategy resulted in 80 adults being screened for both mutations. We identified 10 previously unknown C282Y homozygotes of whom six (four men and two women) required venesection. Acceptance of neonatal screening was high; parents understood the risks of having HH and the benefits of early detection, but a number of parents were reluctant to take the test themselves. Neonatal screening for HH is straightforward. Reverse cascade screening increased the efficiency of detecting affected adults with undiagnosed haemochromatosis. This strategy allows almost complete coverage for HH and could be a model for efficient screening for other late onset genetic diseases.

Adult↗
PubMed2003

[Government Directive MS # 822/01: unique aspects of hemoglobinopathies for public health in Brazil].

By including hemoglobinopathies in the National Neonatal Screening Program (PNTN), Brazilian Ministry of Health Directive # 822/01 has taken an important step towards recognition of their relevance for public health in the country. However, except at a few specialized centers, the public health care system is unprepared to meet the goals laid out under the directive. As the first step to effectively implement the guidelines, it is thus necessary to disseminate information on hemoglobinopathies among health professionals working in public health, especially those involved in neonatal screening. This article discusses some of the unique characteristics of hemoglobinopathies in comparison to other metabolic disorders included in the National Neonatal Screening Program. The authors also analyze potential sources of misunderstanding that could jeopardize the program's outcome.

Brazil↗
PubMed2006

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.

This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants who died suddenly between 7 days and 12 months of age and whose cause of death could not be identified. 17-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay and positive samples were subsequently genotyped. Three infants out of 242 may have had unrecognized CAH due to CYP21 (steroid 21-hydroxylase) gene defect. Their newborn 17-OHP levels and CYP21 genotypes were 706 nmol/l and del/conv//del/conv, 53 nmol/l and I2//I2, and 811 nmol/l and I2//Gln318stop, respectively. CAH due to CYP21 defect can lead to sudden unexpected death without prior symptoms typical for the condition. Hence, newborn screening would have prevented these deaths had it been available. In addition, we have shown that the I2 point mutation that is expected to lead to simple virilizing form may lead to a fatal outcome.

Adrenal Hyperplasia, Congenital↗