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PubMed2006

Newborn screening for CF in a regional paediatric centre: the psychosocial effects of false-positive IRT results on parents.

Neonatal screening for cystic fibrosis (CF) has been established in Leeds since 1975. The current method is measuring IRT and genotyping. Newborn screening for CF results in a small but significant number of false positives. This study explored the psychosocial reactions to such results in a group of parents (N=21) using semi-structured interviews. Responses were analysed using descriptive statistics and well-validated content analysis. Mothers described a range of emotions during the screening process including anxiety, distress and upset. Waiting for the repeat IRT test results was identified as the most emotionally difficult stage. Discussion focuses on good practice and implications for CF services.

Adult↗
PubMed2003

Incidence of fragile X in 5,000 consecutive newborn males.

Fragile X syndrome (FXS) is the commonest cause of inherited mental retardation in males. Even though this affirmation is repeated in virtually all papers referring to FXS, the precise frequency of this syndrome in the general population is unknown. We present a general population screening analyzing an anonymous series of 5,000 consecutive newborn males from the neonatal screening program of the population of Catalonia in Spain. The aim of the study is to determine the incidence of FXS via a simple and economical methodology based on the nonamplification of the fragment containing the CGG repeats of the FRAXA locus in the samples carrying alleles over 52 repeats. From the initial 5,000 samples, 4,920 were in the normal range, 15 gave rise to bands with more than 52 repeats (11 corresponded to intermediate alleles and four premutated alleles). After further studies, two samples were considered to be carriers of full mutations. According to these results, the incidence of FXS affected newborn males is 1 in 2,466, and 1 in 1,233 males is a carrier of the premutation. We can deduce that 1 in 8,333 is an affected female with clinical manifestations and 1 in 411 will be a premutation carrier woman. Upon reviewing the literature, there seems to be variability in the frequencies found by the different groups. Therefore, given that our study is limited to the Catalan population in Spain, these results should be taken as valid for the Catalan region and should only be extrapolated to other populations with caution.

Fragile X Messenger Ribonucleoprotein 1↗
PubMed2003

Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine?

OBJECTIVE: To compare the effects of therapy with thyroxine (T4) plus triiodothyronine (T3) versus T4 alone from the first days of life in screened congenital hypothyroid (CH) infants. METHODS: We examined 14 CH infants diagnosed by neonatal screening and a group of control infants. CH patients were divided randomly into 2 groups, 1 treated with T4 alone (group 1) and the other treated with T4 plus T3 (liothyronine; group 2). In all patients electrocardiography and thyroid hormone evaluations were performed before and 15 and 30 days and 3, 6, and 12 months after the beginning of therapy. Psychological tests were also performed at 6 and 12 months of age in CH patients and in other matched controls. RESULTS: After 15 days of treatment, serum thyrotropin (TSH) levels become normal in 5 of 7 cases of group 1 (median TSH level 10.7 micro U/ml) and in 1 of 7 cases of group 2 (median TSH level 72.5 micro U/ml). At the same period, serum-free thyroid hormone levels were within the normal range in both groups, but free T4 values were significantly higher in group 1 than in group 2 and in controls. At the subsequent examinations, free T4 values were within the upper normal limit in group 1, whereas they remained within the normal range in group 2. No clinical or electrocardiographic signs of heart disease were found in any of the patients. The psychometric quotient in CH infants was significantly lower than in controls, but similar in patients of group 1 and group 2. CONCLUSIONS: The combined treatment with T4 plus T3 seems not to show significant advantages, at least in our experimental conditions, compared with the traditional treatment with T4 alone in early treated CH infants. A further longer and more extensive follow-up is mandatory.

Cohort Studies↗
PubMedDate not supplied

[Congenital hypothyroidism: causes for delayed initiation of treatment].

The aim of neonatal screening programs for congenital hypothyroidism is to ensure early treatment in order to prevent brain dysfunction. There are several reasons why infants are missed in the screening program. We report on three patients with congenital hypothyroidism, who had a pathological screening result and initiation of therapy was delayed. The first patient had an increased TSH level, but she was missed because of mistakes in the confirmatory serum test. During the follow-up the patient showed typical symptoms of hypothyroidism and got a thyroxine supplementation not before the age of three years. The second patient did not get a therapy before the age of six months because of the noncompliance of the parents and physicians. The third patient had a central hypothyroidism. The neonatal screening-program revealed no measurable TSH activity. Although the child had clinical signs of a severe hypothyroidism diagnosis was not made before the age of 5.5 months. Although different reasons are known for screening errors, all these 3 patients were missed because of failures in the follow-up of a pathological screening result, indicating a poor quality in the follow-up procedure.

Congenital Hypothyroidism↗
PubMed1992

Intellectual assessment of hypothyroid children detected by screening.

The IQ was studied in 50 children with CH. Normal distribution of IQ was found in patients detected by neonatal screening. Close relationship was observed between subnormal IQ values (less than 90) and undetectable serum Tg levels (less than 0.3 ng/ml). The intellectual outcome in children with CH depends considerably from the intrauterine hypothyroidism.

Adolescent↗
PubMed1999

Neonatal examination and screening trial (NEST): a randomised, controlled, switchback trial of alternative policies for low risk infants.

OBJECTIVE: To evaluate the effectiveness of one rather than two hospital neonatal examinations in detection of abnormalities. DESIGN: Randomised controlled switchback trial. SETTING: Postnatal wards in a teaching hospital in north east Scotland. PARTICIPANTS: All infants delivered at the hospital between March 1993 and February 1995. INTERVENTION: A policy of one neonatal screening examination compared with a policy of two. MAIN OUTCOME MEASURES: Congenital conditions diagnosed in hospital; results of community health assessments at 8 weeks and 8 months; outpatient referrals; inpatient admissions; use of general practioner services; focused analysis of outcomes for suspected hip and heart abnormalities. RESULTS: 4835 babies were allocated to receive one screening examination (one screen policy) and 4877 to receive two (two screen policy). More congenital conditions were suspected at discharge among babies examined twice (9.9 v 8.3 diagnoses per 100 babies; 95% confidence interval for difference 0.3 to 2.7). There was no overall significant difference between the groups in use of community, outpatient, or inpatient resources or in health care received. Although more babies who were examined twice attended orthopaedic outpatient clinics (340 (7%) v 289 (6%)), particularly for suspected congenital dislocation of the hip (176 (3.6/100 babies) v 137 (2.8/100 babies); difference -0.8; -1.5 to 0.1), there was no significant difference in the number of babies who required active management (12 (0.2%) v 15 (0.3%)). CONCLUSIONS: Despite more suspected abnormalities, there was no evidence of net health gain from a policy of two hospital neonatal examinations. Adoption of a single examination policy would save resources both during the postnatal hospital stay and through fewer outpatient consultations.

Ambulatory Care↗
PubMed1999

A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

We have retrospectively analyzed 837 random anonymized dried blood spot (DBS) samples from neonatal screening programs in Scandinavia for mutations in HFE, the candidate gene for hemochromatosis. We have found C282Y allele frequencies of 2.3% (+2.0%) (-1.3%) in Greenland, 4.5%+/-1.9% in Iceland, 5.1%+/-2.3% in the Faeroe Islands, and 8.2%+/-2.7% in Denmark. The high prevalence of HFE mutations in Denmark suggests that population screening for the C282Y mutation could be highly advantageous in terms of preventive health care. Long-term follow-up evaluation of C282Y homozygotes and H63D/C282Y compound heterozygotes will give an indication of the penetrance of the mutations.

Alleles↗
PubMed1985

Radial immunodiffusion assay of apolipoprotein B in blood dried on filter paper--a potential screening method for familial type II hypercholesterolaemia.

In the search for an effective neonatal screening programme for familial type II hypercholesterolaemia, we have developed and validated a radial immunodiffusion assay for measuring, in dried blood spots, the concentration of apolipoprotein B. The method has advantages over previously described methods, being cheaper, more robust, and suitable for partial automation. In 34 adults there was a close linear relationship between capillary and venous blood spot apolipoprotein B concentrations (r = 0.94), between capillary blood spot and serum apolipoprotein B also measured by radial immunodiffusion (r = 0.90), and between capillary blood spot apolipoprotein B and LDL cholesterol measured by ultracentrifugation (r = 0.85). Apolipoprotein B levels in serum and LDL cholesterol also correlated closely (r = 0.95, n = 40). In 30 normal 3- to 5-day old babies, heel prick blood spot apolipoprotein B levels were 280 +/- 70 mg/l (mean +/- SD) and 790 mg/l in one presumed heterozygote for familial hypercholesterolaemia. We conclude that serum apolipoprotein B measured by radial immunodiffusion accurately reflects adult LDL cholesterol levels, and that the assay, using dried blood spots on filter paper should permit both neonatal and adult screening programmes to detect familial hypercholesterolaemia.

Adult↗
PubMed1992

Nutritional vitamin B12 deficiency: two cases detected by routine newborn urinary screening.

We describe two asymptomatic newborns with nutritional vitamin B12 deficiency in whom increased urinary methylmalonic acid was detected by routine neonatal screening at 3 weeks of age. Both infants were exclusively breast-fed. One mother suffered from pernicious anaemia, and the other was a strict vegetarian. Both mothers had no clinical or haematological abnormality, aside from a borderline mean corpuscular volume for the vegetarian mother. This report illustrates the early appearance of functional vitamin B12 deficiency in breast-fed infants of vitamin B12-depleted mothers. It also demonstrates that urinary methylmalonic acid measurement is a sensitive indicator of tissue vitamin B12 deficiency.

Breast Feeding↗
PubMed2001

Rare alpha-1-antitrypsin phenotypes and liver-test abnormalities during infancy.

UNLABELLED: Over 14 y of neonatal screening 71,675 dried blood samples were examined for the alpha-1-antitrypsin (alpha1-AT) alleles by isoelectric focusing in the Province of Bozen, Northern Italy. In infants carrying abnormal phenotypes the liver enzymes alanine aminotransferase and gamma-glutamyltransferase were determined at 2, 5 and 12 mo of age. In 17 neonates the PiMV phenotype was found, in 11 PiMF, in 11 PiMP, in 5 PiMN, in 3 PiMR, in 3 PiFZ, in 2 PiPZ and in 1 the PiMG phenotype was found. Two infants,1 carrying the PiMV and 1 the PiFZ phenotype showed at the age of 2 and 5 mo, respectively, elevated values of the liver enzyme S-ALAT[CE1]. Only the PiFZ and PiPZ carriers displayed low enough levels of alpha1-AT of 0.78 and 0.85 g l(-1) respectively, to be at moderately increased risk of pulmonary emphysema. Their early detection through the screening should discourage them from dangerous smoking habits. CONCLUSION: Only a neonatal screening based on phenotyping can detect these rare carriers early in life.

Alleles↗
PubMed1995

Delayed diagnosis of cystic fibrosis in children with a rare genotype (delta F508/R117H).

OBJECTIVE: In neonatal screening for cystic fibrosis (CF), infants recognised as delta F508 heterozygotes require a sweat test to confirm the diagnosis. However, compound heterozygotes with delta F508 and the R117H mutation are known to have non-diagnostic sweat chlorides (< 60 mmol/L) at an early age. As genotyping for rare mutations is not readily available in Australia, there is a need to determine whether quantitative pancreatic stimulation tests could facilitate the diagnosis of CF in three infants with the delta F508/R117H mutation. METHODOLOGY: Formal sweat testing, genotyping and pancreatic stimulation tests were performed in three subjects heterozygous for delta F508 who initially had non-diagnostic sweat chloride results (40-60 mmol/L) but presented later with persisting chest symptoms and/or signs consistent with CF. RESULTS: All three patients were shown to have the delta F508/R117H genotype with initial sweat chloride results ranging from 40 to 58 mmol/L. Pancreatic stimulation tests demonstrated reduced enzyme secretion in two and decreased fluid, bicarbonate and chloride secretion in all three patients. CONCLUSIONS: In infants recognized as delta F508 heterozygotes by the newborn screening programme, the presence of an equivocal sweat chloride does not exclude the diagnosis of CF. If such patients with an initially equivocal sweat chloride subsequently develop symptoms suggestive of CF and have a persisting non-diagnostic sweat chloride then the diagnosis of CF can be confirmed by more extensive genotyping if available or by pancreatic stimulation testing.

Child, Preschool↗
PubMed2005

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

Two cases of molecular genetically proven lipoprotein lipase deficiency are reported. Both patients were detected owing to a false-positive neonatal screening test for biotinidase deficiency. We conclude that both the fluorimetric and the colorimetric screening tests for biotinidase deficiency used with dried blood samples are affected by severe hyperchylomicronaemia and that, most probably, severe plasma turbidity interferes with the assay.

Biotinidase Deficiency↗
PubMed2000

Universal versus targeted screening of infants for sickle cell disease: a cost-effectiveness analysis.

OBJECTIVE: To compare the health outcomes, costs, and incremental cost-effectiveness of universal neonatal screening for sickle cell disease (SCD) with screening targeted to African Americans. STUDY DESIGN: A cost-effectiveness analysis was done by using a Markov simulation model that considered the costs and outcomes associated with the prevention and treatment of sepsis in those with sickle cell anemia and sickle beta(0)-thalassemia. Three strategies were compared: (1) no screening, (2) targeted screening of African Americans, and (3) universal screening for SCD. RESULTS: In the base case analysis, targeted screening of African Americans compared with no screening cost $6709 per additional year of life saved, and universal screening compared with targeted screening cost $30,760 per additional year of life saved. In a sensitivity analysis, the cost per additional year of life saved with universal screening compared with targeted screening was positively correlated with the delivery rate of targeted screening and was inversely related to the proportion of African Americans in the population. CONCLUSIONS: Targeted screening of African American newborns for SCD compared with no screening is always cost-effective. Universal screening compared with targeted screening always identifies more infants with disease, prevents more deaths, and is cost-effective given certain delivery rates for targeted screening and proportions of African Americans in the population.

Anemia, Sickle Cell↗
PubMed2005

Use of the automatic tympanometer as a screening tool for congenital choanal atresia.

Choanal atresia is a significant congenital anomaly, which may be associated with other congenital anomalies. Recommendations have been previously proposed for neonatal screening of all newborns to detect this condition. A previously unreported, simple method using the automatic tympanometer to screen newborns for congenital choanal atresia is proposed. A prospective study was performed over a one-month period on all newborns at El-Sahel Teaching Hospital, Cairo, to evaluate the efficacy of this manoeuvre. The nostrils of 143 newborn infants were evaluated during the study period. The sensitivity of the technique in diagnosing a patent nostril was 100 per cent. The specificity of the technique for detecting distal obstruction was 100 per cent. There were no complications of the described procedures. The study revealed that the novel method of screening for choanal atresia in newborns using the automatic tympanometer is simple, minimally invasive and highly reproducible.

Acoustic Impedance Tests↗
PubMed2003

[Analysis of TSH screening results of 42,979 newborns in Zhejiang Province].

OBJECTIVE: Document the prevalence of congenital hypothyroidism in Zhejiang Province, by neonatal screening of TSH. METHODS: DELFIA neonatal TSH kit was applied for the quantitative determination of thyrotropin in blood specimens dried on filter paper. RESULT: Among the 42 979 newborns, 112 had elevated hTSH concentration in blood. All had T3, T4 and TSH concentrations measured in serum and 29 were diagnosed as congenital hypothyroidism. The diagnosis time was 13 to 59 days and mean time was (27.9+/-9.2) days. CONCLUSION: The incidence of congenital hypothyroidism in Zhejiang Province is not low. The TSH screening in newborns is significant in eugenics and the improvement of population quality.

Congenital Hypothyroidism↗
PubMed2001

[Prevention of hemoglobinopathies in Brussels: a necessity?].

Haemoglobinopathies are the most frequent genetic diseases in the world. The estimated frequency of carriers in the world is of 200 millions while there is about 300.000 births per year of major forms of haemoglobinopathies. The neonatal screening of haemoglobinopathies performed at the Hospital Erasme on around 80% of births in Brussels since 1994 has demonstrated that the frequency of carriers of an abnormal haemoglobin is around 1.5% while more than 1/2.000 newborns has a major haemoglobinopathy. A strategy must be adopted to manage the haemoglobinopathies in Brussels.

Algorithms↗
PubMed2005

Molecular analysis in diagnostic procedure of hearing impairment in newborns.

AIM: To determine the proportion of newborns diagnosed with hearing impairment through the hearing impairment screening program in newborns, and the frequency of 35delG/GJB2 mutation as a cause of hearing impairment. The results of the study imply the integration of the mutation analysis in the neonatal screening program. METHODS: Evoked otoacustic emission (E-OAE) screening program was performed among 6019 newborns at the Department of Obstetrics and Gynaecology, Rijeka University Hospital Center, between October 2002 and December 2004. Newborns diagnosed with hearing impairment were re-examined after three weeks and if abnormal responses persisted, the diagnosis was evaluated by auditory brainstem evoked response (ABER) testing. Children with confirmed diagnosis were examined by allele-specific polymerase chain reaction to identify the presence of 35delG/GJB2 mutation. RESULTS: After the first and second stage of screening, 86 newborns were suspect of having hearing impairment. ABER confirmed the diagnosis of hearing impairment in 14 children. Molecular analysis revealed 35delG/GJB2 mutation in 2 of 8 children analyzed. The mutation was homozygous in one, and heterozygous in the other child. CONCLUSION: Neonatal hearing impairment screening is useful for early diagnosis of hearing impairment. It should be complemented with the 35delG/GJB2 mutation analysis, because the identification of the mutation and the etiologic diagnosis might improve the medical treatment and genetic counselling of patients and families with hearing impairment.

Alleles↗