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PubMed2005

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.

OBJECTIVE: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect. The aim of the present study was to determine the nature and frequency of TPO gene mutations in patients with CH, characterised by elevated TSH levels and orthotopic thyroid gland, identified in the Portuguese National Neonatal Screening Programme. SUBJECTS AND METHODS: The sample comprised 55 patients, from 53 unrelated families, with follow-up in the endocrinology clinics of the treatment centres of Porto and Lisbon. Mutation screening in the TPO gene (exons 1-17) was performed by single-strand conformational analysis followed by sequencing of fragments with abnormal migration patterns. RESULTS: Eight different mutations were detected in 13 patients (seven homozygotes and six compound heterozygotes). Novel mutations included three missense mutations, namely 391T > C (S131P), 1274A > G (N425S) and 2512T > A (C838S), as well as the predictable splice mutation 2748G > A (Q916Q/spl?). The undocumented polymorphism 180-47A > C was also detected. CONCLUSION: The results are in accordance with previous observations confirming the genetic heterogeneity of TPO defects. The proportion of patients in which the aetiology was determined justifies the implementation of this molecular testing in our CH patients with dyshormonogenesis.

Adolescent↗
PubMed2004

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

In this report, we present updated spectrum and frequency of mutations of the CFTR gene that are responsible for cystic fibrosis (CF) in Languedoc-Roussillon (L-R), the southwestern part of France. A total of 75 different mutations were identified by DGGE in 215 families, accounting for 97.6% of CF genes and generating 88 different mutational genotypes. The frequency of p.F508del was 60.23% in L-R versus 67.18% in the whole country and only five other mutations (p.G542X, p.N1303K, p.R334W, c.1717-1G>A, c.711+1G>T) had a frequency higher than 1%. The mutations were scattered over 20 exons or their border. This sample representing only 5.7% of French CF patients contributed to 24% of CFTR mutations reported in France. This is one of the highest molecular allelic heterogeneity reported so far in CF. We also present the result of a neonatal screening program based on a two-tiered approach "IRT/20 mutations/IRT" analysis on blood spots, implemented in France with the aim to improve survival and quality of life of patients diagnosed before clinical onset. This 18-month pilot project showed an unexpected low incidence of CF (1/8885) in South of France, with only six CF children detected among 43,489 neonates born in L-R, and 13 among 125,339 neonates born in Provence-Alpes-Côte-d'Azur (PACA).

Adult↗
PubMed2005

Glucose-6-phosphate dehydrogenase deficiency in neonatal indirect hyperbilirubinemia.

The aim of this article is to investigate the prevalence of Glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonatal hyperbilirubinemia and to compare the clinical presentation and course of G6PD-deficient and normal patients. This study included a total of 624 term neonates with indirect hyperbilirubinemia from March 2001 to September 2004. Birth weight, sex, weight at admission, serum bilirubin at admission, maximum bilirubin, phototherapy duration, duration of hospitalization and the need for exchange transfusion were recorded. Laboratory evaluations included blood group typing of mother and newborn, complete blood count, peripheral blood smear, serum total and direct bilirubin, direct coombs test, reticulocyte count, serum-free T4 and TSH, urine analysis, urinary reducing substance and erythrocyte G6PD level. The analysis of the results indicated that 24 neonates with indirect hyperbilirubinemia were G6PD-deficient. No statistically significant difference was detected between G6PD-deficient and normal groups in relation to the time of onset of jaundice, reticulocyte count, hematocrit level, phototherapy duration and duration of hospitalization. Serum bilirubin at admission, maximum serum bilirubin level and the need for exchange transfusion were higher in G6PD-deficient group. From this study our conclusion is that the G6PD deficiency is a common enzyme defect causing severe indirect hyperbilirubinemia which may result in kernicterus. Early neonatal screening programmes should be instituted in countries where the deficiency is prevalent.

Case-Control Studies↗
PubMedDate not supplied

Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses.

Since 1961, newborn screening for errors of metabolism (EM) has improved the diagnosis, treatment and outcome of newborns with an EM. Recently, advances in laboratory technology with tandem mass spectrometry (MS/MS) has increased the identification of newborns with an EM. With a single dried filter paper blood spot (Guthrie R, Susi A. A simple phenylalanine method for detecting PKU in large populations of newborn infants. Pediatrics. 1963;32:338-343), MS/MS can identify more than 30 disorders of metabolism. This review will explore MS/MS to provide a better understanding of the development and application of this technology to newborn screening for perinatal and neonatal nurses.

Amino Acid Metabolism, Inborn Errors↗
PubMed1999

Financial justification for routine ultrasound screening of the neonatal hip.

We have analysed the patterns of management of developmental dysplasia of the hip (DDH) in Coventry over a period of 20 years during which three different screening policies were used. From 1976 to the end of 1985 we relied on clinical examination alone. The mean surgical cost for the treatment of DDH during this period was Pound Sterling 5110 per 1000 live births. This was reduced to Pound Sterling 3811 after the introduction of ultrasound for infants with known risk factors. Since June 1989 we have routinely scanned all infants at birth with a mean surgical cost of Pound Sterling 468 per 1000 live births. This reduction in cost is a result of the earlier detection of DDH with fewer children requiring surgery. In those who do, fewer and less invasive procedures are needed. The overall rate of treatment has not increased and regular review of patients managed in a Pavlik harness has allowed us to avoid the complication of avascular necrosis. When we add the cost of running the screening programme to the expense of treating the condition, the overall cost for the management of DDH is comparable for the different screening policies.

Blood Transfusion↗
PubMed2005

Prospective epidemiologic study of the outcome and cost-effectiveness of antenatal screening to detect neonatal alloimmune thrombocytopenia due to anti-HPA-1a.

BACKGROUND: To assess the value of antenatal screening to detect neonatal alloimmune thrombocytopenia (NAIT) due to anti-HPA-1a, a prospective study was carried out to quantify the potential clinical benefits and determine whether screening would be cost-effective. STUDY DESIGN AND METHODS: An observational prospective controlled study was carried out on 26,506 pregnant women over 2 years. HPA-1a phenotyping was performed in the first trimester and women confirmed HPA-1a-negative were tested for anti-HPA-1a during pregnancy, at delivery, and 10 to 14 days after birth. Babies of HPA-1a-negative women were tested at delivery for thrombocytopenia and examined for signs of bleeding. Economic evaluation was undertaken on the basis of the data collected during the study. RESULTS: Twenty-five of 318 women (7.9%) had anti-HPA-1a detected for the first time. Eight women (43 per 100,000) gave birth to babies with NAIT, and 5 (27 per 100,000) had severe thrombocytopenia. Three babies had mild signs of bleeding, and no cases of intracranial hemorrhage (ICH) or fetal loss were detected. It is estimated that it would cost 60,596 pounds (98,771 US dollars) to detect a case of severe NAIT, where anti-HPA-1a has been identified for the first time, and 1,151,323 pounds (1,876,656 US dollars) to prevent a case of ICH, assuming that detection allowed successful intervention. CONCLUSIONS: Our data suggest that severe HPA-1a NAIT is underdiagnosed in the absence of routine antenatal screening. Serious bleeding complications and ICH, however, occur less frequently in first cases of NAIT than suspected from the literature, and the costs of screening and possible intervention must be balanced against the procedural risks.

Antigens, Human Platelet↗
PubMed2005

[Hypoacusis after the neonatal period. Situations requiring hearing assessment].

INTRODUCTION: Because hearing plays a major role in language development, pediatric hypoacusis is especially damaging. The high frequency of hearing impairment in newborns and the need for an early diagnosis have led to the establishment of neonatal screening. Nevertheless, there are other situations which may compromise hearing quality in later stages and it is essential to identify them in order to be able to provide early and effective treatment. OBJECTIVES: To describe the most frequent reasons for referring patients for hearing evaluation to a third level hospital and to identify common situations that require hearing assessment among the pediatric population. PATIENTS AND METHODS: The clinical histories of 197 non-neonates evaluated for hypoacusis were reviewed. Clinical parameters and diagnosis were compared in patients with impaired and normal hearing. RESULTS: One hundred sixty-one patients had no previous known hypoacusis. The main reason for evaluation was suspicion by the family or child minder (53.4 %), followed by language underdevelopment. In the first examinations 78 children had hypoacusis (48.4 %), which was more frequently bilateral than unilateral. In 29.5 % of hypoacusic patients, the disease was related to recurrent otitis or adenoiditis and in 25.6 % it was genetic. The most frequent antecedent was deaf relatives in hypoacusic patients and abnormal phenotypes in children with normal hearing. Three patients with previous bacterial meningitis were studied and two of these had hypoacusis. CONCLUSIONS: Hypoacusic evaluation outside the context of newborn screening is mainly motivated by clinical suspicion of hypoacusis or language underdevelopment. Other situations such as recurrent otitis with effusion, syndromic phenotypic characteristics or bacterial meningitis are related to hearing problems and therefore require detailed evaluation.

Child↗
PubMed2004

Birth weight for gestational age centiles for Italian neonates.

OBJECTIVE: To provide centiles for birth weight (BW) according to gestational age (GA) and sex for infants born in Italy. METHODS: We used records of the whole neonatal population of Tuscany, a region in Italy, from July 1991 to June 2002 as resulting from the database of the cystic fibrosis neonatal screening program (n=290129). We excluded as unlikely for GA those BW that were more than two interquartile ranges above the 75th centile or below the 25th centile for each GA and gender group. RESULTS: We present the 3rd, 10th, 25th, 50th, 75th, 90th and 97th centiles of BW for GA from the 24th to 43rd week of gestation for male and female Italian neonates, as both tables and smoothed curves. CONCLUSIONS: The large size of the examined population allows us to provide up-to-date, reliable BW for GA centiles for Italian newborns, especially for lower GAs.

Birth Weight↗
PubMed2005

Vestibular-evoked myogenic potentials in infancy and early childhood.

OBJECTIVE: Hearing impairment and the often concurrent loss of vestibular function, which is rarely assessed in infants, can both impair sensory integration critical to the development of normal motor coordination. This study demonstrates, for the first time, that vestibular function in infants can be noninvasively assessed using vestibular-evoked myogenic potentials (VEMPs). Our intentions were to demonstrate that VEMPs can be reliably recorded from neonates and to compare neonatal VEMPs with those obtained from normal adults. STUDY DESIGN: Prospective cohort study. METHODS: Myogenic evoked potentials induced by air- and bone-conducted auditory stimuli were recorded from the sternocleidomastoid muscles of 12 normal neonates and 12 neonates with various clinical findings. These included infants with bilateral atresia of the external auditory canals, Treacher-Collins syndrome, and neonates who failed universal neonatal screening. RESULTS: With the exception of one patient with hearing loss, reproducible biphasic VEMPs were recorded from the sternocleidomastoid muscle of all the infants using loud, short tone-burst sounds. CONCLUSIONS: The VEMP has characteristics that differentiate it from the postauricular response and the Jaw reflex. The VEMPs were dominant on the side ipsilateral to the stimulated ear. The overall morphology of the neonatal VEMP is quite similar to that of adults. The major neonatal differences are a shorter latency of the n23 peak and higher amplitude variability. Our results suggest that recording of the VEMP in neonates with various audio-vestibular problems provides useful information about vestibular function in this population and may provide information that leads to better care and rehabilitation for neonates at risk of developmental and motor system delay.

Audiometry, Pure-Tone↗
PubMed1991

Statistical approaches for the detection of heterozygotes for biotinidase deficiency.

We applied and evaluated 3 statistical approaches for the detection of heterozygotes for biotinidase deficiency in a randomly selected population of French adults. The first method, which used a cutoff value to dichotomize the population, lacked sensitivity. The second approach calculated the probability of heterozygosity for a given enzyme activity through the application of Bayes theorem to the normal density functions of the enzyme distributions of the obligate heterozygote and the test populations. A priori values of the means and standard deviations (SDs) of the genotypic distributions were used. This method was sufficiently sensitive for both population screening and genetic counseling, but requires prior knowledge of the frequency of the deficient gene (q). The third approach was similar to the second, however, maximum likelihood estimates of the means and SDs of the genotypic distributions were calculated and used to determine the probability of heterozygosity for a given enzyme activity. This method was as sensitive as the second method and is appropriate for screening populations for which there is little prior information about the gene frequency and the genotypic distributions. This method can also be used to estimate the gene frequency of the disorder within a given ethnic or racial population. Using this method, we estimated the frequency of heterozygotes (2pq) in the French population to be 0.012, which was similar to that estimated from the results of neonatal screening for biotinidase deficiency. These methods can be used to detect heterozygotes and to estimate the gene frequency of other inherited enzyme deficiencies.

Amidohydrolases↗
PubMedDate not supplied

[Neuropsychological follow-up of children with phenylketonuria treated early].

We evaluated, yearly, the neuro-psychological development in 16 out of the 27 children with phenylketonuria detected via neonatal screening in the years 1980-90. 14 children had the classical form, while 2 had "variant" type of phenylketonuria. Development quotients always were slightly lower in patients than in controls, but the greatest difference was seen at 1 year of age (92.5 +/- 6.7 vs 101.6 +/- 2.2). At age 6 years, 4 children out of 11 had a IQ equal or below 90.2 of them had neonatal asphyxia, while the others showed, after age 2-4, constantly elevated phenylalanine levels. Four children had a bad metabolic control, as from the age of 2-4 year, and only 1 of them showed a normal IQ at 6 years of age. Regression analyses were used to determine the best predictors of IQ. Parents' social level stood out as the best predictor of IQ at 6 years of age. If this parameter was excluded, phenylalanine level, especially at age 4, best predicted IQ. The following variables had no influence: age at start of diet (they were all begun on diet within the first month of life), pre-diet phenylalanine levels and phenylalanine levels at 1 year of age (all children were, at this age, on good control), DQ (Development Quotient) at age 1. A high percentage (10 out 14) of hyperactive and psychologically instable children was also found, but with no correlations with IQ levels.

Age Factors↗
PubMed2000

Organisation and cost-effectiveness of antenatal haemoglobinopathy screening and follow up in a community-based programme.

OBJECTIVE: To consider the organisation cost and effectiveness, of universal, community-based antenatal screening for the haemoglobinopathies, and to estimate the cost-effectiveness of programmes at different levels of prevalence and mix of haemoglobinopathy traits. DESIGN: Retrospective review of laboratory and Sickle Cell and Thalassaemia Centre worksheets with costing of capital equipment, consumables, salaries and overheads, and estimation of costs in a range of circumstances. SETTING: A haematology department, including a Sickle Cell and Thalassaemia Centre, providing antenatal and neonatal screening programmes in Inner London. PARTICIPANTS: Two thousand one hundred and one women booking at the antenatal clinic whose samples were referred for screening during 1994. MAIN OUTCOME MEASURES AND RESULTS: In addition to assessing the cost-effectiveness of antenatal haemoglobinopathy screening in a number of settings, the following specific financial information was assembled for the service in Brent: 1. cost of identifying abnormal haemoglobin in mother (ł209); 2. cost of identifying at-risk fetus before confirmation by prenatal diagnosis (ł2,455); 3. cost of providing genetic information and counselling to mother with abnormal haemoglobin (ł109); 4. programme savings from cases averted (ł61,000). Conclusions Antenatal screening with follow up counselling can be self-financing at most prevalences of haemoglobinopathy traits, with greater savings where a high proportion of the traits are beta thalassaemia. There is a net financial cost (ł1,350) only at prevalences below 2.5% of traits if these are mainly for sickle cell disease. Since there are other benefits is it likely that antenatal screening will be considered cost-effective even at quite low levels of trait prevalence.

Algorithms↗
PubMed2004

The value of Bilicheck as a screening tool for neonatal jaundice in term and near-term babies.

AIMS: To determine the accuracy of Bilicheck in assessing serum bilirubin. To evaluate the effectiveness of Bilicheck as a screening device in a population of jaundiced term and near-term babies. METHODS: Prospective evaluation of paired Bilicheck measurements and serum bilirubin in 300 babies. RESULTS: There was a strong correlation between Bilicheck and serum bilirubin. The mean difference between Bilicheck and serum bilirubin was -10.7 micromol/l, but the 95% limits of agreement were wide at -80 micromol/l to +60 micromol/l. Bilicheck identified significant jaundice (serum bilirubin above 250 micromol/l) with a sensitivity (95% confidence interval) of 91% (88% to 94%) and specificity of 66% (60% to 71%). The area under the receiver operator characteristic curve was 0.85. There were five false negatives, all of whom had a serum bilirubin below 300 micromol/l. If Bilicheck had been used as a screening device, there would have been a 55% decrease in blood samples taken in these babies. CONCLUSION: Bilicheck cannot be used to measure serum bilirubin in term and near-term babies with jaundice, but is an effective screening method, which can be used to safely reduce the number of blood tests in these babies.

Bilirubin↗
PubMed2003

Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.

OBJECTIVE: To understand the expanding clinical and biochemical spectrum of short-chain acyl-CoA dehydrogenase (SCAD) deficiency, the impact of which is not fully understood. STUDY DESIGN: We studied a family with SCAD deficiency and determined urinary ethylmalonic acid excretion, plasma C(4)-carnitine, SCAD enzyme activity in fibroblasts and lymphocytes, DNA mutations in the SCAD gene, and clinical expression. The index patient was born prematurely and had otherwise unexplained cholestasis and hepatomegaly during the first year of life. His mother developed a hemolysis-elevated liver enzymes-low platelets (HELLP) syndrome while pregnant with the index patient. RESULTS: Two siblings had a homozygous inactivating 1138C>T mutation, whereas the father was compound heterozygous for this mutation and the common 625G>A polymorphism. There was a good correlation between the type of SCAD mutation, the residual SCAD enzyme activity, and the levels of urinary ethylmalonic acid and plasma C(4)-carnitine in each of the eight family members. Retrospective acylcarnitine analysis of the index patient's Guthrie screening card confirmed the abnormal increase of C(4)-carnitine, suggestive of SCAD deficiency. None of the family members had hypotonia, developmental delay, or episodes of ketotic hypoglycemia. CONCLUSION: Homozygosity for an inactivating SCAD mutation does not necessarily result in disease. The previously held opinion that SCAD deficiency is always a serious disorder may have been influenced by a clinical bias. Homozygosity for an inactivating 1138C>T SCAD mutation was assessed by neonatal screening of blood spot acylcarnitines. SCAD deficiency may be associated with maternal HELLP syndrome.

Amino Acid Substitution↗
PubMed2005

Use of pyrosequencing of 16S rRNA fragments to differentiate between bacteria responsible for neonatal sepsis.

Infants admitted to neonatal intensive care units for suspicion of bacterial sepsis receive at least two broad-spectrum antibiotics for a minimum of 48 to 72 hours to cover both gram-positive and gram-negative organisms while awaiting blood culture results. On average, bacterial growth becomes detectable within 12 to 24 hours, with an additional 24 to 48 hours required for identification. We have previously described using a 16S rRNA PCR assay for screening neonatal blood for bacterial DNA. Combining PCR with DNA sequencing could prove a faster means of detecting bacteria than culture-based identification. If successful, antibiotic therapy could be appropriately tailored sooner, thus sparing infants the administration of unnecessary antibiotics. Our goal was to assess the potential of pyrosequencing to differentiate between bacteria commonly associated with neonatal sepsis. To begin, full-length sequencing of the 380-bp 16S rRNA amplicons from representative bacteria was conducted (ABI 3100) and several databases queried. These included Staphylococcus sp., Streptococcus sp., Listeria sp., and numerous gram-negative rods. The sequences from clinical isolates were identical to those present in the published databases for the same bacteria. As a result, an informative 15 bases within the 380-bp amplicon was targeted for pyrosequencing following enrichment culture and PCR amplification. A total of 643 bacterial isolates commonly associated with neonatal sepsis, and 15 PCR-positive, culture-positive neonatal whole blood samples were analyzed by pyrosequencing. Results of DNA sequencing and culture identification were compared. In summary, we were successful at using PCR and pyrosequencing together to accurately differentiate between highly diverse bacterial groups.

Bacteremia↗
PubMed1989

Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children.

Five-hundred and fifty one mentally retarded children from seven institutes in Northern Taiwan were screened by dried blood spot for the detection of treatable congenital metabolic diseases, including congenital hypothyroidism, phenylketonuria, homocystinuria, maple syrup urine disease and galactosemia. We found 2 children (0.36%) with congenital hypothyroidism, 1 case (0.18%) of classical phenylketonuria and two cases (0.36%) of trisomy 21 associated with autoimmune thyroiditis. The results of our investigation suggest that congenital hypothyroidism and phenylketonuria can be the factors causing mental retardation among children in Taiwan and mass neonatal screening of these treatable inborn metabolic diseases is strongly indicated for efficiently circumventing mental retardation in our community.

Adolescent↗
PubMed2000

Screening strategies for neonatal hearing loss: which test is best?

OBJECTIVE: The objective of this study was to evaluate the accuracy and cost effectiveness of three different methods of hearing screening in newborns. DESIGN: A prospective, randomized cohort design was used. One hundred and five newborns were tested in this preliminary study. SETTING: The study was conducted in a tertiary care hospital setting in both the well baby and special care nurseries. METHODS: Consenting subjects had their hearing tested using automated auditory brainstem response (AABR), distortion-product otoacoustic emissions, and click-evoked otoacoustic emissions. The time to perform the tests was recorded and the cost of each test was calculated. MAIN OUTCOME MEASURES: The main outcomes measured were the time taken to perform each test, the pass/fail rate for each test, and the estimated cost of the tests. RESULTS: In this small cohort of patients, we found that AABR was the most accurate test, but it took longer to perform and was more expensive than either of the otoacoustic emission tests. However, the sensitivity and specificity of otoacoustic emissions were less than that of AABR. Test time decreased as the examiner gained experience, and we anticipate that experience will also result in better accuracy for the otoacoustic emission tests. CONCLUSIONS: Hearing screening in a hospital-based newborn population is both feasible and cost effective. Although AABR was more expensive, its better accuracy must be considered. As technology improves, the cost of all three tests will diminish. More robust conclusions cannot be made based on this small patient population.

Canada↗