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1656 newborns were examined by ultrasound for early diagnosis of CDH in a screening program. In 2.5% of the cases, dysplasia or dislocation of the hip was diagnosed and required treatment. In all cases the final outcome after adequate treatment showed a hip joint without any abnormalities. 11.3% of type IIa-hips (using Graf's classification) did not reach an alpha-angle of 60 degrees until the 12th week. They were then therefore classified as type IIb. 97% of all hip joints were judged as normal in the course of the 4th month. This study emphasizes the necessity of a general ultrasound screening program. It also demonstrated that early and adequate treatment leads to a normal development of the joint.
The feasibility of attempting a two-stage universal screening test for auditory impairment was assessed at a large district maternity hospital. The first stage was measurement of otoacoustic emissions using the Programmable Otoacoustic Emission Measurement System. Those failing the first stage proceeded to automated analysis of auditory brainsteam responses. A single tester working for 6 h on 6 days per week attempted to test all babies born between the hours of midday and midnight for 2 weeks and then all babies born between midnight and midday for a further 2 weeks. Of 217 babies born during the study periods, one infant died and three were still receiving intensive care at the end of the study. Of the remaining 213 infants, auditory testing was undertaken in 201 infants (94%). Eight infants (4%) who failed the first stage of the screening test did not undergo the second stage. Of those 193 infants completing the screen, one (0.5%) failed the screen unilaterally. There were no bilateral failures. Three testers, working two and a half whole-time equivalents, should be adequate to achieve a coverage of 90% and a specificity of 99% for this screen in this clinical setting.
A pilot study was conducted in order to identify the cases and determine the incidence of congenital hypothyroidism, phenylketonuria (PKU) and glucose-6 phosphate dehydrogenase (G6PD) deficiency in the newborn infants born at Rajavithi Hospital. During May 1995 - July 1998, 32,407 out of 49,092 (66%) infants were screened for congenital hypothyroidism by measuring thyroid stimulating hormone (TSH) by radioimmunometric assay method. Seven cases of congenital hypothyroidism were identified (incidence of 1 : 4,629 live births). The recall rate was 0.66%. The screening for PKU was done on 17,421 out of 29,443 (59.14%) infants by measuring phenylalanine level by Guthrie method during June 1996 to July 1998. There was no PKU found. From January 1996 to July 1998. 24,714 newborn infants were screened for G6PD deficiency by fluorescent screening technique. The total incidence of 5.13% was found. The incidence in males and females was 9.13% and 1.66% respectively. This study confirms the benefit of the screening program in early detection and treatment of the disorders.
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OBJECTIVE: Newborn screening for cystic fibrosis was introduced in the Piedmont region of Italy in the year 2000. Our aim with this study was to estimate the effect of newborn screening on the risk of Pseudomonas aeruginosa infection at the regional cystic fibrosis pediatric reference center. METHODS: The time to first infection with P aeruginosa within the historical cohort of cystic fibrosis children diagnosed between January 1, 1997, and June 30, 2004, was investigated, comparing survival functions and the adjusted hazard ratio of children diagnosed before and after newborn screening introduction. The role of pancreatic insufficiency was also concurrently investigated. RESULTS: Overall, 71 children diagnosed with cystic fibrosis were identified, 27 cases were clinically diagnosed before newborn screening introduction, and 5 of them presented with meconium ileus, whereas 44 were identified by newborn screening. Among them 35 needed pancreatic enzyme supplementation, whereas 34 children were infected with P aeruginosa. Both the nonparametric and semiparametric survival estimates failed to show any significant increase in the risk of P aeruginosa infection among screened children compared with historical controls. However, the median time from cystic fibrosis diagnosis to P aeruginosa infection among screened children was significantly shorter (183 vs 448 days). Children with impaired pancreatic function were at high risk of P aeruginosa infection. CONCLUSIONS: The results of the study suggest that health authorities should regard newborn screening for cystic fibrosis as an opportunity to improve care and outcomes among affected children and shift the focus from whether it is appropriate to screen to how to optimize biomedical and psychosocial outcomes of screening.
Amino acid and acylcarnitine profiling of dry blood specimens using electrospray tandem mass spectrometry (ESI/MS/MS) has been recognized as an useful tool for screening inherited metabolic defects of newborns. In this pilot study, we introduced this technology to screen 2100 newborns to establish the normal amino acid and acylcarnitine level. Based on the upper cutoff level (average + 4*SD), twenty-nine samples studied were considered as abnormal. After follow-up samples and urine GC/MS analysis, only two were confirmed as true inborn errors. One was identified as hyperphenylalaninemia, and the other as isovaleric acidemia. The positive rate of true inborn metabolic error was 0.09% (2/2100), and the false positive rate 1.28% (29/2100) in this study. ESI/MS/MS is proven to be an adequate tool for inborn metabolic error screening.
OBJECTIVE: To find out the incidence of tetrahydrobiopterin deficiency(BH4D) among patients with hyperphenylalaninemia in Southern Chinese and evaluate the clinical outcome and gene mutations of tetrahydrobiopterin deficient patients. METHODS: Analyses of urinary neopterin(N) and biopterin(B) were done in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. The patients with BH4 deficiency and their parents were asked to undergo the gene mutation analysis and the patients were treated and followed up. RESULTS: Eleven cases of which the urinary N/B ratio was higher than 38 and B% lower than 5% were diagnosed as BH4 deficiency caused by 6-pyruvoyl-tetrahydropterin synthase(PTPS) deficiency. The incidence of BH4 deficiency among patients with hyperphenylalaninemia is 12% in Southern Chinese. PTPS gene mutations (P87S, N52S, D96N and G144R) were detected from 5 PTPS deficient families. The G144R mutation is a new mutation. The five PTPS-deficient patients were treated with synthetic BH4, neurotransmitter precursors L-dopa and 5-hydroxytryptophan. They had satisfactory physical and mental development after treatment, and 4 of them scored their IQ 70-80. CONCLUSION: The screening for BH4 deficiency should be carried out in all patients with hyperphenylalaninemia in order to minimize the misdiagnoses.
Congenital hypothyroidism is one of the commonest endocrine diseases in infancy; the diagnosis is delayed it can lead to mental impairment. Since a precocious diagnosis, based on clinical symptoms and signs, is often difficult, screening at birth is very useful. Substitute L-T4 therapy presents some problems as it is impossible to assess the right dose before. The results of an eleven years long screening in a peripheral hospital are reported: 6408 babies were examined and congenital hypothyroidism was present in three cases, depending respectively on agenesia, ectopia and hypoplasia of the thyroid gland.
OBJECTIVE: To evaluate the double screening performed for congenital hypothyroidism (CH) to preterm infants <32 weeks of gestational age (GA) between 1994 and 2003. INFANTS AND METHODS: TSH was assessed by IFMA. Infants were classified as: term (T) (>37 weeks GA); preterm (PT) (33-37 weeks GA); and very preterm (VPT) (< or =32 weeks GA). RESULTS: In 585,221 screened infants, CH was confirmed in 228 T, 23 PT and seven VPT. An increasing incidence of CH was found with decreasing GA, affecting 1:1,603 PT and 1:585 VPT. PT infants had 1.5 times more risk than full-term infants of suffering CH, and VPT 4 times more. Only 4/7 affected VPT had an adequate double screening as requested. Three had elevated TSH values in the first sample and in one a normal TSH (10.3 mIU/l) at 3 days rose to 240 mIU/l after day 15. In the remaining three VPT, TSH in the unique filter paper sample (21 to 34 days) was markedly elevated. CONCLUSIONS: Our findings reinforce the need for awareness in neonatal settings for adequate screening of VPT infants. Screening in the first week of life was effective in detection of most but not all affected VPT. Larger studies are needed in order to establish accurate screening recommendations for VPT newborns. Until this step is reached, repeated screening is advised in these infants.
Hemoglobinopathies are the most common inherited disorders in humans; the most frequent are hemoglobins S and C (Hb S and Hb C). Studies in Brazil show the high prevalence of Hb S and Hb C heterozygotes, indicating the need for diagnosis to allow medical care and suitable genetic counseling. This study evaluates the prevalence of hemoglobin patterns in different areas of Rio Grande do Sul State, Brazil, using neonatal data from the public health system. Blood samples from 117,320 newborns, obtained by heel stick, and 2,389 blood samples from parents of newborns, obtained by venopuncture, were submitted to IEF and HPLC. Among the newborns, 1,629 (1.4%) showed abnormal hemoglobin patterns: 1,342 FAS; 225 FAC; 45 FAD; 2 FSC; 1 FS and 26 variant hemoglobin heterozygotes. We conclude that the methods used are able to identify a broad variety of hemoglobin patterns with high specificity and sensitivity. The information is of paramount importance for transmitting knowledge in the public health field, besides facilitating planning and resource allocation.
Newborn screening for cystic fibrosis (CF) has been carried out on approximately 106,000 neonates in western Pennsylvania since 1987 using the immunoreactive trypsinogen (IRT) assay on dried filter paper blood specimens (DBS). Molecular analysis utilizing a duplicate DBS from the same sample was implemented in November 1989 for newborns having elevated IRT levels. DNA is amplified directly from the DBS and the amplified products are tested for the delta F508 deletion and several common exon 11 mutations. Substituting dUTP for dTTP in the PCR reaction and an initial treatment with uracil N-glycosylase (UNG) virtually eliminates PCR carryover contamination. The number of confirmed cases of CF is 20, giving an estimated incidence of 1:5287 in the western Pennsylvania population. Eight of the CF patients are homozygous and 12 are compound heterozygotes for the delta F508 deletion and a second mutation. Two of the compound heterozygotes carry the G551D mutation and one has the R553X mutation. Twenty-one additional neonates that are heterozygous for the delta F508 mutation are normal carriers for CF. In approximately 55% of the cases, molecular analysis of the CF gene confirmed the diagnosis of CF prior to sweat testing. The incorporation of molecular analysis into our CF screening program increases the specificity of the screening strategy and has the potential to decrease the false positive and sweat test referral rate, reduce parental anxiety, and bring CF infants to the attention of physicians more rapidly.
A newborn screening program for congenital hypothyroidism (CH) and phenylketonuria (PKU), a pilot study, was initiated at the Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital Faculty of Medicine, Mahidol University in Bangkok, Thailand from January 1994 to December 1998, using dried blood spots (DBS). A total of 18,739 infants (out of 85,150 livebirths) were screened (22 % coverage). Three cases of congenital hypothyroidism (CH) were identified (incidence of 1: 6,246, livebirths), by enzyme linked immunosorbent (ELISA) and fluoroimmunoassays using a cut-off level of TSH >20 microlU/ml: the recall rate of 0.24%. The screening for PKU was done by fluorometric (Guthrie) and enzyme linked immunosorbent (ELISA) methods; using cut-off levels of phenylalanine > 4 mg/dl and > 3.6 mg/dl respectively, with a recall rate of 0.13%. There was no PKU found. Our study, a voluntary program, emphasizes the importance of parental education and consent; specimen collection and handling; appropriate follow-up and referral to specialists for treatment and counseling. Routine newborn screening for CH and PKU is being established to ascertain the maximum coverage, using recommendations and guidelines from this pilot study.
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INTRODUCTION: The aim of our study was to verify the correlation between clinical and sonographic screening for CDH. MATERIALS AND METHODS: Clinical and sonographic screening was carried out in 1000 newborns (2000 hips) during the first week of life. Anamnestic risk factors were evaluated and clinical examination was performed using the BARLOW, Le DAMANY and ORTOLANI maneuvers. We also took into account a possible limitation of abduction due to adductor hypertonia and the presence of a hip crepitation. All hips were evaluated by ultrasound examination using Graf's morphologic method. We considered as clinically pathological the positive BARLOW, Le DAMANY and ORTOLANI hips and "doubtful" the stable hips having "crepitation" or "hypertonia of the adductors". The hips considered pathological with the ultrasound were the hips 2c, 3a and 3b according to GRAF. RESULTS: 1) Hips clinically pathological (BARLOW, Le DAMANY and ORTOLANI): 150 (7.5 per cent). 2) The clinically stable hips but "doubtful":--crepitation: 105 (5.25 per cent); adductor hypertonia: 86 (4.3 per cent), total 191 (9.55 per cent). 3) Hips clinically normal but with at least anamnestic risk factor: 198 (9.9 per cent); 4) Hips clinically normal but without anamnestic risk factor: 1461 (73.05 per cent). 5) Hips echographically pathological, that is 2c, 3a and 3b according to Graf: 124 (6.2%) and particularly 2c: 61 (3.05 per cent), 3a: 61 (3.05 per cent) and 3b: 2 (0.1 per cent). DISCUSSION: 1) In the clinically pathological hips (BARLOW positive) 36 were echographically pathological with a clinical-sonographic correlation of 28.3 per cent (36 out of 127); all the ORTOLANI positive hips, were echographically pathological (100 per cent (23 out of 23)). In doubtful hips, sonograms were pathological in 17 of 105 hips with "crepitation" (0.85 per cent) and in 13 of 86 hips with "adductor hypertonia" (0.65 per cent). 2) The clinically and echographically pathological hips at birth, that is 2c, 3a and 3b, must be followed for months. At follow up they showed in almost all the cases an evolution towards normality. It is, therefore, indicated to repeat the clinical and sonographic examination in the first month, before undertaking any kind of treatment. 3) Finally, 12 hips, 0.6 per cent, presenting pathological sonographic type 2c and 3a, were found clinically normal. Nevertheless, almost all of these hips evolved normally. From this study only 0.05 per cent of clinically normal hips presented, later, a dysplasia of the acetabulum. Analysis of the results clearly showed that ultrasound examination may be an excellent help to clinical examination which, if well performed, has top priority for early diagnosis of C.D.H. CONCLUSION: The clinical examination, carefully performed in the first days of life, has priority because it allows discovering a pathological hip or a hip at risk. The sonographic examination is a useful image complementing the clinical examination because it allows confirmation of the diagnosis and follow up of the morphologic evolution of the hip with an inoffensive method and it can give indications for possible treatment. From our study we may conclude that at birth a clinical screening is preferable and that the ultrasound study is to be reserved for pathological, doubtful or at risk hips.
From 1989 to 2001, 1,336,145 newborns were screened for biotinidase deficiency in Hungary. Fifty-eight children with the disorder were identified as enzyme-deficient. We have characterized the clinical and biochemical features and mutations of 20 of these children. Eleven children had profound biotinidase deficiency, 7 had partial biotinidase deficiency, and 2 were found to be heterozygous for profound deficiency by mutation analysis. Seventeen different mutations were identified in this population including seven novel mutations. Six of these new mutations are missense, 245C>A, 334G>A, 652G>C, 832C>G, 1253G>C, 1511T>A, and one is a unique allelic double mutation [212T>C;236G>A]. Of five Romanian Gypsies, four were homozygous for the 1595C>T mutation and one was heterozygous for this mutation. Most of the children with profound deficiency have been asymptomatic on therapy; however, four exhibited minimal brain abnormalities, motor delay and abnormal blood chemistries. Compliance with therapy must be questioned in these cases. Of clinical importance, all of the children with partial deficiency exhibited mild symptoms at the time of diagnosis, at several weeks to months of age. These symptoms resolved following biotin therapy. This is in contrast to the experience in the United States, where the children with partial deficiency have been asymptomatic at the time of diagnosis. This finding further indicates that children with partial deficiency should be treated. The incidence of biotinidase deficiency in Hungary is more than twice that observed in a worldwide survey. These results indicate that newborn screening in Hungary is effective and warranted.
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