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PubMed2000

[Mucoviscidosis screening of newborn infants in the Dresden district. Results from 1 June 1996 to 31 March 2000].

PROBLEM: Cystic fibrosis (CF) is the most common congenital defect of metabolism in Europe. Therefore we tried to detect this disease as early as possible before clinical symptoms occur. Thus early diagnosis can be the basis for an early start of treatment. PATIENTS AND METHODS: As part of a complete neonatal screening program in our region we investigated the concentration of immuno-reactive trypsin (IRT) in dried blood samples. Genomic investigation of the same blood sample for the most common CF mutations was performed when a critical value of IRT was exceeded. RESULTS: From 6/1996 until 3/2000 (46 months) we investigated the blood of 49,926 newborn children. Due to a high IRT value (> 70 ng/ml) in 579 cases, a genomic investigation was performed. In 38 children we detected one of the three most frequent CF mutations (delta F508, G551D, R553X) by polymerase chain reaction (PCR). The sweat test (pilocarpine iontophoresis) confirmed cystic fibrosis in 8 newborns. Four times a homocygocity for the mutation delta F508 was found and four times a compound heterocygocity (one time delta F508/R553X und three times delta F508/others). Only three of these eight CF patients already had clinical symptoms of the disease at this time, only in one case had this diagnosis been considered. An additional newborn with meconium ileus had been diagnosed as cystic fibrosis before performing the screening. Up to now we have not found any case of false negative testing. CONCLUSION: We found this procedure of neonatal testing practicable and therefore recommend its continuation. The genomic test should include the search for additional CF mutations. As alternative method a second IRT-test should be considered at the end of the first month of life for those children with initial IRT-concentrations above 150 ng/ml and without evidence of the three tested CFTR-mutations.

Cystic Fibrosis↗

PubMed1991

Neonatal at risk screening and the identification of deafness.

From a cohort of 10,686 live births, 322 (3%) were identified as being at risk of a hearing impairment defined as moderate, or worse. These neonates were screened by measurement of auditory brainstem responses. The neonatal at risk screening programme was effective in terms of both yield and cost. The mean age at which hearing aids were fitted was 6 months in the children identified by the neonatal screen. Such a programme is both practicable and useful in a district general hospital. The yield from the neonatal programme was, however, only 43% of the total number of deaf children eventually identified from the cohort. The need to identify more deaf children by a sensitive infant distraction test screening programme remains.

Age Factors↗

PubMed1999

Newborn screening for PKU and congenital hypothyroidism in Latvia.

The newborn screening program in Latvia was started in 1980 as pilot study project. Mass screening for phenylketonuria (PKU) in the whole republic was started in 1987, but for congenital hypothyroidism (CH) it begun in 1996. Last two years the Latvian State Medical Genetics Center (SMGC) screened nearly 25,000 newborn dried blood specimens per year. Approximately 25% are repeat and control specimens. Efficiency of the screening program is nearly 97%. Fluorometric method is used for PKU screening, followed by amino acid analysis (HPLC) and analysis of DNA samples for mutations of the PAH gene. Most of the 51 Latvian PKU patients detected from 1980 to 1998 were selected by neonatal screening (38), while the others (13) were diagnosed during genetic counseling. The incidence of PKU in Latvia is 1:8,700 births. CH screening is based on measurement of thyroid stimulating hormone (TSH), using fluoroimmunoassay method, with cut-off value 10 mlU/l, as the primary screening test, and T3 and T4, as confirmatory tests for diagnosis. From 38,684 newborns 37,380 were screened for CH in 1996 and 1997. From these 1,438 (3.8%) newborns were recalled because of initial elevation of TSH level. From these 85 (0.2%) newborns had elevated TSH level during first two weeks of life and were referred to SMGC for repeat testing and follow-up. The diagnosis of CH has been confirmed in 6 babies. The incidence of CH in Latvia is about 1:6,450.

Congenital Hypothyroidism↗

PubMed2002

Quantitative determination of plasma phenylalanine and tyrosine by electrospray ionization tandem mass spectrometry.

BACKGROUND: Phenylketonuria patients on protein-restricted diets require monitoring of their blood phenylalanine concentrations. Small sample volumes are essential for neonates and infants, with the need for results to be generated in a timely manner by robust methods. We present a tandem mass spectrometry assay for phenylalanine (and tyrosine) which fulfils these criteria. METHODS: Plasma samples were deproteinized using a methanolic solution of phenylalanine-d5 and tyrosine-d4 that served as the internal standards for the assay. Following centrifugation each liquid phase was dried in a well of a microtitre plate and the amino acids converted to butyl esters using butanolic hydrogen chloride. After drying again and reconstituting in 80% acetonitrile in water, the samples were analysed using electrospray ionization tandem mass spectrometry. RESULTS: For both phenylalanine and tyrosine the limit of detection was 1 micromol/L and the carry-over less than 1%. The assay was linear to 3000 micromol/L in both amino acids (phenylalanine: r= 0.999; tyrosine: r= 0.992). Inter-sample precision varied with concentration but was 3.4-5.2% for phenylalanine and 4.3-7.6% for tyrosine. Between-batch precision was more variable, being 4.1-12.9% for phenylalanine and 8.4%-10.5% for tyrosine. CONCLUSIONS: Good agreement was found between the assay and results from existing ion-exchange chromatography and high performance liquid chromatographic assays in this department. Carry-over and precision were acceptable for monitoring work and the linearity allowed most specimens to be analysed without dilution. Where available, tandem mass spectrometry offers a convenient means of transferring the routine work for both neonatal screening and monitoring to one instrument.

Humans↗

PubMed2003

Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis.

Although early diagnosis of cystic fibrosis (CF) can lead to nutritional benefits, there has been uncertainty about pulmonary outcomes. Using a randomized controlled trial with unique unblinding/surveillance, we evaluated patients with CF who received similar treatment after being assigned to an early diagnosis (screened) group or to a standard diagnosis (control) group. When the youngest patient was 7 years of age, we compared outcomes using pulmonary function data and quantitative chest radiology. In the screened group (56 patients), diagnosis was made at a younger age of 12.4 weeks, compared with the diagnosis in control group (47 control patients) at the age of 95.8 weeks, but included a significantly greater proportion of patients with deltaF508 genotypes and pancreatic insufficiency. The first chest radiograph showed significantly fewer abnormalities in the screened group; but, over time, the two groups converged, and after 10 years of age the screened patients showed worse chest X-ray scores associated with earlier acquisition of Pseudomonas aeruginosa. No differences were detected in any measure of pulmonary dysfunction, which was generally mild in each group. Although CF neonatal screening provides a potential opportunity for better pulmonary outcomes, it appears that respiratory infections and pancreatic status are the dominant factors in pulmonary prognosis.

Adolescent↗

PubMed2003

Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

BACKGROUND: The recent development of electrospray tandem mass spectrometry makes it possible to screen newborns for many rare inborn errors of metabolism, but the efficacy and outcomes of screening remain unknown. We examined the effect of the screening of newborns by tandem mass spectrometry on the rates of diagnosis of 31 disorders. METHODS: We compared the rates of detection of 31 inborn errors affecting the metabolism of the urea cycle, amino acids, and organic acids and fatty-acid oxidation among 362,000 newborns screened by tandem mass spectrometry over a four-year period (April 1998 through March 2002) with the rates in six preceding four-year birth cohorts in New South Wales and the Australian Capital Territory, Australia, where screening, diagnostic, and clinical services were centralized. RESULTS: The overall prevalence of disorders during the periods when clinical diagnosis was used did not vary between 1982 and 1998. In the cohort screened with tandem mass spectrometry, the prevalence of inborn errors, excluding phenylketonuria, was 15.7 per 100,000 births (95 percent confidence interval, 11.9 to 20.4), as compared with adjusted rates of 8.6 to 9.5 per 100,000 births in the four preceding four-year cohorts. Of the 57 cases diagnosed after the introduction of newborn screening, 15 were diagnosed clinically; 7 of the 15 newborns had a normal result on screening. The rate of detection was increased specifically for medium-chain acyl-coenzyme A dehydrogenase deficiency (P<0.001) and other disorders of fatty-acid oxidation (P=0.007), as compared with the 16-year period before the implementation of neonatal screening for these disorders. CONCLUSIONS: More cases of inborn errors of metabolism are diagnosed by screening with tandem mass spectrometry than are diagnosed clinically. It is not yet clear which patients with disorders diagnosed by such screening would have become symptomatic if screening had not been performed.

Australian Capital Territory↗

PubMed1996

[Neonatal detection of sickle cell disease in metropolitan France. Association française pour le dépistage et la prévention des handicaps de l'enfant (AFDPHE)].

Following the experimental program initiated in Martinique and Guadeloupe since 1983, a neonatal screening for sickle cell disease was extended to metropolitan France in 1990. It is presently applied to at risk newborns based on the parents ethnic origin, and associated with the screening for phenylketonuria, hypothyroidism and congenital adrenal hyperplaxia, in three regions. The laboratory method is reliable with a very limited number of false positive or false negative results. The cost effectiveness ratio appears very reasonable. All the children detected so far are correctly managed and have a normal development. This screening should be extended to the rest of France in the coming years.

Anemia, Sickle Cell↗

PubMed1992

[Psychosocial consequences of screening programs in children].

Owing to improved possibilities of early diagnosis, there has been increasing interest in screening children, particularly newborns. However, in the event of false-positive results or certain hereditary risk factors there is a danger of adverse psychosocial consequences, especially negative stigmatization (both of children and their families). Accordingly, except where neonatal screening may be essential for medical reasons, such screening programmes should preferably be scheduled for a later stage in life when the parents are less prone to anxiety about anything that might be interpreted as a threat to the well-being of their offspring.

Anxiety↗

PubMed1993

[Delayed detection of hip dislocation: is the physician to blame?].

Despite the screening campaigns for early detection of congenital dislocation of the hip, some cases continue to be diagnosed late. The main reason for the failure to diagnose this disorder at an early stage is still unclear. A dislocated or a dislocatable hip is not always apparent during the initial newborn screening examination, and repeated clinical examinations throughout the first 12 months are necessary in order to establish the presence or absence of this disorder. At birth, radiographs are usually normal and a systematic pelvic radiograph of the neonate has no place in neonatal screening. Sonography helps to detect hip pathology early. However, owing to the dynamic nature of the disorder, a single early non-selective ultrasound has proved to be too sensitive and to lack specificity. In the United States, failure to diagnose the congenital dislocation of the hip is the most common musculoskeletal cause of litigation brought against pediatricians. In Europe, the system of fault liability implicates an obligation of ability and means. Failure to diagnose or misdiagnosis is not a fault in itself as long as a complete history, careful physical examination and adequate and appropriate complementary examinations have been performed by an adequately trained physician. If congenital hip dislocation is recognized and treated early, most of the affected children will develop functionally and radiologically normal hips. The longer the dislocation remains untreated, the harder it is to relocate the hip and the higher the incidence of secondary acetabular dysplasia, necessitating surgical correction. However, early treatment is not always successful or without complication. Consequently, the damages due to late onset of the treatment are difficult to assess.(ABSTRACT TRUNCATED AT 250 WORDS)

Attitude of Health Personnel↗

PubMed2004

21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children.

We evaluated clinical features, laboratory profile and pointers to diagnosis of 21-hydroxylase deficiency in children presenting to the Pediatric Endocrine Clinic of our hospital from 1990 to 2002. Of the 94 patients included in the study 46 had salt wasting form (SW, 21 girls), 44 simple virilizing form (SV, 34 girls) and 4 non-classical form of the disease (NC, all girls). No difference was observed in the mean (95% confidence interval) age at diagnosis in boys and girls with salt wasting (2.3 mo (0.7-3.9 mo) against 1.3 mo (0.9-1.7 mo), p not significant) despite the presence of genital ambiguity in all girls at birth. Diagnosis of salt wasting was missed at admission in 18 boys (72%) and 3 girls (14.3%) highlighting the need for high index of suspicion for the disorder. Eight patients with 46 XX karyotype (14.5%) had male-like external genitalia with cryptorchidism emphasizing the need for evaluation of boys with cryptorchidism for female pseudohermaphroditism. Our study reiterates the need for early recognition and management of 21-hydroxylase deficiency in children in countries where neonatal screening programs are not feasible.

Adrenal Hyperplasia, Congenital↗

PubMed2002

Decreased morbidity in homozygous sickle cell disease detected at birth.

In metropolitan France, newborn screening for sickle cell disease has been performed at the Hĵpital Henri Mondor, Créteil, since 1985. After confirmation of the diagnosis, children are enrolled in a comprehensive medical-care program. Our aim was to evaluate the effectiveness of this program in France where most families are first generation immigrants with cultural and social differences that can interfere with medical follow-up. We compared the complications of sickle cell disease in two populations of homozygous SS children aged more than two years at their last medical visit, and recruited from an initial register of 134 SS children: (1) 38 diagnosed by neonatal screening; (2) 69 controls, diagnosed at a mean age of 24 months. Mean age at the last medical visit is 58 months in both groups. Splenic sequestrations and painful crises were significantly reduced in the screened group. Two screened children, belonging to the initial register from which the 38 other screened children were collected, died from overwhelming infection at 15 and 23 months, respectively. Neonatal diagnosis of sickle cell disease, coupled with specific preventive measures may lead, in the initial six years of life, to reduced painful events and splenic sequestration episodes. Education of parents is one of the hallmarks of preventive measures and may be difficult in first generation immigrants. Because of the bias of this type of study, a large prospective follow-up since birth is necessary to have a better understanding of the clinical course.

Anemia, Sickle Cell↗

PubMed2006

Inborn errors of metabolism in infancy and early childhood: an update.

Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians must take immediate steps to evaluate the infant and should be able to access a regional metabolic disorder subspecialty center. Detailed knowledge of biochemical pathways is not necessary to treat patients during the initial evaluation. Nonspecific metabolic abnormalities (e.g., hypoglycemia, metabolic acidosis, hyperammonemia) must be treated urgently even if the specific underlying metabolic disorder is not yet known. Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass spectrometry and know when to pursue additional diagnostic testing. The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients.

Child, Preschool↗

PubMed1999

Screening for congenital toxoplasmosis in Brazil.

Toxoplasmosis acquired at the end of the pregnancy can produce ocular and neurological sequelae. The detection of IgM anti-Toxoplasma gondii in dried blood spots of newborns is an important tool for early treatment and prevention. In this study we showed results of a pilot study about the prevalence of congenital toxoplasmosis in Brazil and concluded that this disease should be included in the menu of neonatal screening programs.

Animals↗

PubMed1999

Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry.

OBJECTIVE: To assess the feasibility of screening for cholestatic hepatobiliary disease and extrahepatic biliary atresia by using tandem mass spectrometry to measure conjugated bile acids in dried blood spots obtained from newborn infants at 7-10 days of age for the Guthrie test. SETTING: Three tertiary referral clinics and regional neonatal screening laboratories. DESIGN: Unused blood spots from the Guthrie test were retrieved for infants presenting with cholestatic hepatobiliary disease and from the two cards stored on either side of each card from an index child. Concentrations of conjugated bile acids measured by tandem mass spectrometry in the two groups were compared. MAIN OUTCOME MEASURES: Concentrations of glycodihydroxycholanoates, glycotrihydroxycholanoates, taurodihydroxycholanoates, and taurotrihydroxycholanoates. Receiver operator curves were plotted to determine which parameter (or combination of parameters) would best predict the cases of cholestatic hepatobiliary disease and extrahepatic biliary atresia. The sensitivity and specificity at a selection of cut off values for each bile acid species and for total bile acid concentrations for the detection of the two conditions were calculated. RESULTS: 218 children with cholestatic hepatobiliary disease were eligible for inclusion in the study. Two children without a final diagnosis and five who presented at <14 days of age were excluded. Usable blood spots were obtained from 177 index children and 708 comparison children. Mean concentrations of all four bile acid species were significantly raised in children with cholestatic hepatobiliary disease and extrahepatic biliary atresia compared with the unaffected children (P<0.0001). Of 177 children with cholestatic hepatobiliary disease, 104 (59%) had a total bile acid concentration >33 micromol/l (97.5th centile value for comparison group). Of the 61 with extrahepatic biliary atresia, 47 (77%) had total bile acid concentrations >33 micromol/l. Taurotrihydroxycholanoate and total bile acid concentrations were the best predictors of both conditions. For all cholestatic hepatobiliary disease, a cut off level of total bile acid concentration of 30 micromol/l gave a sensitivity of 62% and a specificity of 96%, while the corresponding values for extrahepatic biliary atresia were 79% and 96%. CONCLUSION: Most children who present with extrahepatic biliary atresia and other forms of cholestatic hepatobiliary disease have significantly raised concentrations of conjugated bile acids as measured by tandem mass spectrometry at the time when samples are taken for the Guthrie test. Unfortunately the separation between the concentrations in these infants and those in the general population is not sufficient to make mass screening for cholestatic hepatobiliary disease a feasible option with this method alone.

Age Factors↗

PubMed2003

[Model project for reorganising of newborn screening].

OBJECTIVE: To establish a newborn screening programme for congenital metabolic or endocrine defects which meets the national requirements in Germany: documentation of complete and early diagnosis. METHODS: The main new components of the programme consist of the introduction of a new method for detection of congenital metabolic defects (MS-Ms and 17 alpha-OHP), extension of the programme to a number of new conditions such as, fatty acid oxidation defects, aminoacidopathies, organoacidurias and AGS (adrenogenital syndrome) and the establishment of a follow-up unit of the public health service (screening centre) to allow tracking of completeness of participation rates and follow-up testing of screening positives or inconclusive screening results. RESULTS: 350 393 children were screened during 1999 to 2001. Documented participation with the screening programme could be increased from 80 % before the introduction of the new programme to at present > 98 %. The required follow-up testing for 99.1 % of the children with positive or inconclusive screening results could be achieved. In 16.5 % (1926) of the children in need of replicate testing an intervention of the screening centre was required. 271 children with congenital metabolic or endocrine defects could be identified during the 3-year period. The mean age of blood taken for screening was 3.1 days. The new screening programmes met with high acceptance from the different participants in the health care system and from parents. CONCLUSIONS: The tracking system worked excellently although the number of conditions included in the programme was high. Such a tracking system is a prerequisite for the expansion of neonatal screening programmes since many of the new conditions require early onset of treatment.

Child, Preschool↗

PubMed1998

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

BACKGROUND: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a common disorder of fatty acid oxidation in north west Europe. It is very variable in its clinical consequences and is believed to be considerably underdiagnosed. OBJECTIVE: To investigate the diagnosis and outcome of MCAD deficiency in the UK. METHOD: A prospective surveillance study through the British Paediatric Surveillance Unit. RESULTS: Of 62 affected individuals identified, 57 were from England, giving an incidence of 4.5 cases/100,000 births. Forty six cases presented with an acute illness (10 of whom died), 13 cases were identified because of family history, and three for other reasons. Six of the survivors were neurologically impaired. CONCLUSIONS: Despite increased clinical awareness, the mortality and morbidity from MCAD deficiency remain high. The frequency and severity of the disease support the case for the introduction of universal neonatal screening in England and Scotland.

Acyl-CoA Dehydrogenase↗

PubMed2002

Screening for congenital hypothyroidism in North-West region of Saudi Arabia.

OBJECTIVE: The aim of this study is to demonstrate the prevalence of congenital hypothyroidism (CH) in Madina Al-Munawara region, Kingdom of Saudi Arabia (KSA) and to compare the results with other reported studies. METHODS: All deliveries conducted at the Ministry of Health Hospitals, Health Centers and Private Hospitals in Madina Al-Munawara region, KSA during the period from 1989 to 1999 were included in this study. Cord blood samples for thyroid stimulating hormone (TSH) measurement was used for screening. RESULTS: Out of 200,040 deliveries 193,613 infants were screened for CH during the study period. Forty-six infants had hypothyroidism with an overall prevalence of 1:4208 live births. Thirty-three (72%) of the diagnosed infants were Saudi and 13 (28%) were not Saudi. The male to female ratio was 1:3. The mean age at the start of treatment was 9 days. CONCLUSION: The screening program based on the initial measurement of TSH in cord blood is detected by nearly 97% of the total infants born in Madina region over 10 years. The overall prevalence of CH was 1:4208 lower than other local studies. Mental retardation can be prevented by neonatal screening program; however, Neonatologists and Pediatricians should remain vigilant in searching for signs and symptoms of CH.

Congenital Hypothyroidism↗

PubMed1993

Prospective analysis and classification of patients with cystinuria identified in a newborn screening program.

Patients who inherit mutant cystinuria genes excrete high concentrations of cystine, ornithine, arginine, and lysine in the urine. At least three variants of cystinuria can be distinguished in heterozygotes. To determine whether certain combinations of mutant genes are more disadvantageous than others, we analyzed amino acid excretion in families of 17 probands with cystinuria identified by the Quebec neonatal screening program. Parents of the probands were classified into the three known phenotypes by calculating the sum of cystine, ornithine, arginine, and lysine excretion. Although parents of type I/I homozygotes excreted amounts of cystine in the normal range, their offspring excreted significantly greater amounts of urinary cystine than did children who have type I/III genetic compounds. This observation suggests that types I and III cystinuria mutations might involve two distinct genetic loci. Children with type I/I homozygous cystinuria often excrete cystine at levels greater than the theoretic solubility limit and may be at greatest risk for nephrolithiasis. We outline an approach to monitoring children with cystinuria who come to medical attention before formation of cystine stones.

Arginine↗