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PubMed1998

[Neonatal screening for congenital metabolic disorders in Bavaria--assessment of current status and planned reorganization].

Newborn screening for inborn errors of metabolism is one of the most important achievements of preventive medicine to avoid disabilities and childrens death. In Bavaria, like in the rest of germany, the guthrie test for phenylketonuria was established in the late sixties. In the early eighties the introduction of screening for galactosemia and hypothyreodism followed. Considering actual problems (mixed finances, poor quality assurance) and recent methodological advances (tandem mass spectrometry) the current system needs reforming. At present, efforts are made to realize a concept for the reorganization of newborn screening in Bavaria. A new center with distributed functions for the public health services (quality assurance), the university of Munich (science) and a private laboratory (analysis) is planned.

Cost Control↗

PubMed2004

Effect of single and multiple courses of prenatal corticosteroids on 17-hydroxyprogesterone levels: implication for neonatal screening of congenital adrenal hyperplasia.

Measurement of 17-hydroxyprogesterone (17-OHP) from filter-paper blood is widely used to screen for congenital adrenal hyperplasia (CAH). However, in pregnancies with an expected preterm delivery, prenatal treatment with steroids to induce pulmonary maturation could suppress the fetal adrenals and interfere with this screening. In 160 infants who were born between 25 and 35 wk of gestation, we measured 17-OHP in filter-paper blood at 72-96 h and compared the values between those who had not received antenatal steroids (n=50) and those who had (n=110). A single course of steroids was two 12-mg injections of betamethasone given within a 24-h interval: 30 infants received a half single course, 45 received a full single course, and 35 received multiple courses. Results are expressed as medians (25th percentile; 75th percentile). Blood 17-OHP differed significantly among groups: 23.7 (14.2; 30.7) nmol/L, 26.1 (15.0; 50.1) nmol/L, 20.1 (13.8; 29.1) nmol/L, and 14.9 (9.5; 26.2) nmol/L (for, respectively, no steroid, half a single course, a full single course, and multiple courses; p <0.05, multiple comparisons with the Kruskal-Wallis test). However, only infants who were treated with multiple antenatal courses of steroids had lower blood 17-OHP than those who were untreated (p <0.05 with the Mann-Whitney U test). In multiple regression analysis, steroid treatment and intrauterine growth retardation were significant negative predictors of blood 17-OHP, whereas respiratory distress syndrome was a significant positive predictor (multiple R=0.50, p <0.001). Multiple courses of steroids in preterm infants decrease 17-OHP values by approximately 30% in filter-paper blood, thus raising the risk of false-negative results in screening programs for CAH.

17-alpha-Hydroxyprogesterone↗

PubMed2002

[Congenital adrenal hyperplasia: clinical aspects and neonatal screening].

Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In 95% of CAH cases, it is caused by 21-hydroxylase deficiency, leading to cortisol deficiency and (in most cases) aldosterone deficiency. The compensatory increase in ACTH secretion by the pituitary gland leads to stimulation of the adrenal glands and, consequently, overproduction of androgens. The classic form is well known due to the congenital virilisation seen in affected girls. However, the cortisol and aldosterone deficiency is at least equally important in both sexes as it can cause an Addisonian crisis within the first weeks of life. For these reasons, a neonatal CAH screening program has been introduced in the Netherlands. Screening results in earlier detection and treatment. The prevalence of the classic form of the disease is 1:12.000 in the Netherlands. Non-classic 21-hydroxylase deficiency is more frequent, presenting with signs of androgen excess from childhood through to adulthood. Treatment of CAH consists of hormonal replacement and surgical correction in case of congenital virilisation in girls. Long-term treatment results, including height at adulthood, have improved over the last decades. Nevertheless, fertility problems can occur in both sexes.

Adrenal Hyperplasia, Congenital↗

PubMed1991

Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening.

Screening of the newborn for cystic fibrosis by measurement of immunoreactive trypsin has been undertaken on alternate weeks in Wales and the West Midlands for five years since 1985 to evaluate the possible clinical benefits of early diagnosis. Patients detected by screening and those diagnosed by clinical symptoms alone were assessed annually for differences in clinical, anthropometric, and biochemical variables. Fifty eight infants not considered to be at risk of cystic fibrosis (they did not present with meconium ileus and do not have a sibling with cystic fibrosis) have been detected by screening and they have been compared with 44 children who were diagnosed clinically. This latter group includes nine children whose screening was negative but who were recognised subsequently to have cystic fibrosis. The mean age at diagnosis of the screened group was significantly lower than that of the group diagnosed clinically. Excluding admissions for diagnostic tests for cystic fibrosis, the screened group spent a significantly shorter time in hospital during the first year of life. The results of all other comparisons made between the screened group and those diagnosed clinically were similar up to the age of 4 years.

Body Height↗

PubMed1978

Effectiveness of neonatal screening for congenital dislocation of the hip.

Despite the examination of neonates for congenital dislocation of the hip, this condition is being diagnosed after the newborn period at a rate not very different from that reported before the introduction of screening. The majority of late-diagnosed cases had been examined after birth, and the sensitivity of the tests used routinely is called into question. Re-examination of all infants at 3-6 months is proposed to reduce the number of missed cases and so minimise late sequelae.

Age Factors↗

PubMed1999

DNA microarray technology for neonatal screening.

Modern molecular biology, owing much to the Human Genome Initiative, has elucidated many of the genetic mechanisms underlying heritable metabolic disease. While the use of molecular methods has flourished in research laboratories, complexity and cost have limited their utility in newborn screening. Newborn blood cards provide high quality DNA samples able to provide reliable support to highly multiplexed polymerase chain reactions (PCR). New manufacturing processes have reduced the cost of DNA microarray technology to the point where it is a practical tool for population screening. In a single assay, a DNA microarray facilitates the co-detection of amplification products diagnostic for several genetic diseases. High throughput is achieved with automation at every step, from DNA extraction to detection of hybrids. We suggest that it is both feasible and practical to develop a first-tier newborn screening protocol based upon multiplex PCR and analysis of amplification products using DNA microarrays. Initial data utilizing the model systems of sickle cell disease, alpha-1-antitrypsin deficiency and Factor V Leiden will be reported.

DNA↗

PubMed2005

Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment.

OBJECTIVES: To determine whether early identification of babies with cystic fibrosis (CF) improves outcome in the current environment of new improved treatments, considering the criticism that there may be only marginal benefit gained by CF newborn screening (NBS). STUDY DESIGN: We tested whether CF NBS in the setting of modern CF center care still afforded benefit using the UK CF Database (UKCFD; ) to compare clinical outcomes in infants who underwent NBS and control subjects who were clinically diagnosed (CD). With Mann-Whitney rank tests, 184 patients who underwent NBS aged 1 to 9 years in 2002 (excluding meconium ileus) were compared with matched patients who were CD in 3-year age groups (950 control subjects). RESULTS: Patients as old as 6 years who underwent NBS had significantly greater median height z-scores, less severe Northern chest radiography scores, better Shwachman-Kulczycki scores, and lower rates of chronic Pseudomonas aeruginosa infection. No difference was found for weight z-score or % predicted forced expiratory value in 1 second or forced volume capacity. Nutritional benefit was demonstrated in patients who underwent NBS and were homozygous for the DeltaF508 mutation. CONCLUSIONS: NBS segregates with better outcomes in patients as old as 6 years compared with age- and gene-matched control subjects who are CD. This cross-sectional study shows that infants who undergo screening derive nutritional benefit in improved median height and reduced morbidity.

Age Factors↗

PubMed1999

Influence of spironolactone on neonatal screening for congenital adrenal hyperplasia.

AIM: To determine if the diuretic spironolactone cross reacts with 17alpha-hydroxyprogesterone (17OHP) in an enzyme linked immunosorbent assay (ELISA) kit used for the mass screening of congenital adrenal hyperplasia. METHODS: Concentrations of 17OHP on a blood filter paper disc were measured using an ELISA kit (kit C-7: ENZAPLATE N-17alpha -OHP-7; Chiron, Tokyo, Japan). The cross reactivity of spironolactone and its metabolites with 17OHP was determined. The concentrations of spironolactone and its metabolites in blood were measured using HPLC (high performance liquid chromatography). RESULTS: Spironolactone cross reacted with 17OHP using kit C-7 (0.01%), by increasing 17OHP concentration in a dose dependent manner. The blood concentration of spironolactone and its metabolites was nearly 900 ng/ml, high enough to show an additive effect on the 17OHP concentration. About 12% of the false positive cases screened using the kit were due to the administration of spironolactone. CONCLUSIONS: Spironolactone interferes with 17OHP concentrations, leading to false positive test results for CAH.

17-alpha-Hydroxyprogesterone↗

PubMed1993

Neonatal screening for congenital cytomegalovirus infection by detection of virus in saliva.

A rapid assay for detection of cytomegalovirus (CMV) in saliva was evaluated as a screening method for congenital infection. Samples of saliva were examined by detection of early antigen fluorescent foci (DEAFF) and standard tissue culture (TC). Results were compared with those from urine DEAFF. CMV was detected in saliva from 31 (1.7%) of 1870 newborns, 26 by DEAFF and TC, 1 by DEAFF alone, and 4 by TC alone. Urine DEAFF was positive in 28 of these 31 newborns. The sensitivities of various tests were saliva TC, 96.8%; saliva DEAFF, 87.1%; and urine DEAFF, 90.3%. A change in transport medium for 825 saliva samples resulted in improved sensitivities: saliva TC and saliva DEAFF, 100%; urine DEAFF, 92.3%. Screening saliva of newborns for CMV appears to be at least as sensitive a method for detecting congenital infection as detection of viruria; saliva can be collected with less difficulty and expense than urine.

Cytomegalovirus↗

PubMed2003

Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.

The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a single analytical step. Shall this powerful technology be applied to the screening of newborn babies? Careful evaluation of every single disorder that could potentially be identified is needed. In the following, I will present some considerations that concern glutaric aciduria type 1 (MIM 231670; glutaryl-CoA dehydrogenase deficiency).

Amino Acid Metabolism, Inborn Errors↗

PubMed2002

Demographics of the UK cystic fibrosis population: implications for neonatal screening.

The objective was to determine the composition of the Cystic Fibrosis (CF) Population attending specialist UK CF centres in terms of age, gender, age at diagnosis, genotype and ethnicity. With the planned introduction of the national CF screening programme in the UK, cystic fibrosis transmembrane regulator (CFTR) mutations were compared between different ethnic groups enabling a UK-specific frequency of mutations to be defined. Data were analysed from the patient biographies held in the UK CF Database (see www.cystic-fibrosis.org.uk). The currently registered population of 5,274 CF patients is 96.3% Caucasian with a male preponderance that significantly increases with age. The majority of the 196 non-Caucasian CF patients are from the Indian Subcontinent (ISC), of which one in 84 UK CF patients are of Pakistani origin. The commonest CFTR mutation, deltaF508, is found in 74.1% of all CF chromosomes. In the Caucasian CF population, 57.5% are deltaF508 homozygotes but the UK ISC CF population with only 24.7%, has significantly fewer deltaF508 homozygotes patients (95% confidence interval (CI) 0.2-0.4). The distribution of Caucasian patients with deltaF508/deltaF508, deltaF508/Other and Other/Other does not fit the expected distribution with a Hardy-Weinberg model unless those patients without a detected mutation are excluded (P<0.001). The UK CF Database has shown the UK CF population to have distinct characteristics separate from the North American and European CF Registries. The ISC group contains many mutations not recognised by current genetic analysis, and one in four ISC patients have no CFTR mutations identified. The CFTR analysis proposed for the screening programme would detect 96% of patients registered in the database, but is unlikely to achieve the desired >80% detection rates in the ethnic minority groups. Screen-positive, non-Caucasian infants without an identifiable CFTR mutation should be referred for a sweat test and genetic counselling when serum trypsinogen concentrations remain elevated after birth.

Adolescent↗

PubMed2000

[Model project for updating neonatal screening in Bavaria: concept and initial results].

The newborn screening programme in Bavaria was confronted with several problems. Number of disorders and process quality no longer complied with screening guidelines. Mixed financing, distributed between the state (PKU, galactosaemia) and health insurances (hypothyroidism) had promoted an increasing dissipation of the system. Notified participation rates had dropped to < 80%. Increasing need for a second screening due to early discharge was an additional challenge. To overcome these problems, and considering the availability of improved screening methodology (tandem mass spectrometry) the programme was reorganised. The project, which started on Jan 1, 1999, is based on a cooperation model between laboratory (logistics, analysis), universities (treatment, scientific evaluation), and public health services (coordination, tracking). Time of blood sampling was predated to the third day of life. Screening was extended to biotinidase deficiency, congenital adrenal hyperplasia (CAH) and by introduction of tandem mass spectrometry for screening of many other disorders (besides PKU). Insurances now finance complete laboratory analysis which was transferred to the private sector. To enable all newborn to participate, the names of screened children are matched against birth lists by public health services on a regional basis. Recalls and conspicuous results are consistently followed up until disorders are either excluded or confirmed. Two clinical hotlines were established in the children's hospitals of the universities in Munich (Southern Bavaria) and in Erlangen (Northern Bavaria). Written consent is required for participation in the programme. Participation in the new programme could be continually increased; coverage is > 95% since April. In several cases screening was made up for not tested children by contacting their parents. Omitted screening was mostly due to misunderstandings regarding testing responsibility or lost samples. Altogether 52 cases of disorder were found in the 87,000 newborn screened until August 1999. Hence, the detection rate of children affected by inborn errors of metabolism was about twice as high than before changes. Among the newly screened diseases CAH was detected most often (11 cases). In 22 cases diagnosis was based on the use of tandem mass spectrometry. Among these (besides PKU, 9 cases) MCAD deficiency (6 cases) was detected most frequently. Whereas recall rates of most disorders were < 0.1%, screening for CAH still revealed a high recall rate, particularly in premature births. Second screening due to early discharge (< 48 h) was required in 1.3%. About 20% of pending recalls required contacting birth hospitals, doctors, midwives or parents. So far all affected children could be brought to treatment in time.

Female↗

PubMed1998

Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.

The objectives of this study were to evaluate a novel semiquantitative application of the bioluminescence test for screening newborns for Duchenne muscular dystrophy (DMD) and to use this technique in a pilot national program. The study was performed on the island of Cyprus, which provides ideal conditions for maximizing the prevention rate due to the small size of the country, the well-defined population, and the high degree of awareness of the public concerning genetic diseases. Guthrie spots were obtained through the national screening center for phenylketonuria and congenital hypothyroidism. The bioluminescence method for measuring creatine kinase (CK) in dried blood spots was adapted for use in a semiquantitative way. During the first 6 years of the program (1992-1997), we screened 30,014 samples and found 43 with initially high CK values. We were able to obtain repeat specimens in 35 cases. Of the repeat samples, 30 were found to have normal activity, giving a false-positive rate of 0.10%. Five boys had persistent CK elevations and were confirmed to be DMD or Becker (BMD) cases by DNA analysis and/or dystrophin analysis. The semiquantitative application of the bioluminescence assay of CK that we have introduced has proved to be a fast and reliable method for screening large numbers of samples for DMD. It has a low rate of false positives, which compares favorably with that of other DMD screening programs. Although it is early to evaluate its impact fully, the program seems to be bringing about the anticipated benefits to affected families.

Creatine Kinase↗

PubMed1991

Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism.

A comparison between the cost of identification and care of patients with phenylketonuria (PKU) and congenital hypothyroidism (CH) and the expenditure for the care of untreated retarded patients has been established on the basis of the activity of the Nord-Pas-de-Calais regional screening centre and of interviews with patients' families. The analysis yields a benefit-cost ratio of 6.6 for PKU and 13.8 for CH prophylaxis. However, cost-benefit varies depending on the economic partner, i.e. the patient's family, Social Security or Administration.

Cost-Benefit Analysis↗

PubMed2002

Neonatal screening for developmental dysplasia of the hip on the maternity wards in Crete, Greece. correlation to risk factors.

OBJECTIVE: To evaluate the effects of ultrasound examination of newborns in early detection and management of developmental dysplasia of the hip (DDH), and its correlation to known risk factors. The incidence of DDH in newborns throughout the general population of Crete has also been investigated. METHODS: From 1996 to 2000, 6,140 full-term newborns were examined in the Maternity Department of the University Hospital. All received standard assessments, with their medical history recorded, and a physical examination performed on the first and the fifth postpartum days. Ultrasonography of both hips using the Graf technique was performed on the 15th day after birth on both high-risk newborns and those with any clinical suspicion of DDH. Treatment was initiated according to the Graf classification. RESULTS: Ultrasound examination was performed on 220 newborns (3.58%). Ultrasound findings were positive in 65 neonates (10.83 per 1,000). Twenty-one neonates whose clinical examination was normal, but who underwent ultrasound because of the presence of risk factors had pathological findings on the hip sonography (32.30%) CONCLUSION: The incidence of DDH in Crete is estimated to be 10.83 per 1,000; higher than in the rest of Greece. Medical and family histories and clinical examination play an important role in the diagnosis of hip instability. Selective ultrasonography for all infants with risk factors, and those with clinical abnormality of the hip, is an adjunctive tool which aids early diagnosis and offers higher control in the results of treatment.

Female↗

PubMed1994

Povidone-iodine in umbilical cord care interferes with neonatal screening for hypothyroidism.

Out of 1346 newborns screened for congenital hypothyroidism, 31 non-hypothyroid infants were summoned because of a thyroid stimulating hormone (TSH) level above 10 microU/ml. False-positive TSH levels were significantly more frequent in the babies treated with povidone-iodine (4.6%) than in those treated with either alcohol or triple dye (0.7%). CONCLUSION. Iodine containing solutions should be avoided in umbilical cord care of the newborn.

Humans↗

PubMed2002

Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.

Glutaric acidemia type 1 (GA1) is overrepresented in the aboriginal population of Island Lake, Manitoba, and northwestern Ontario who speak the Ojibway-Cree (Oji-Cree) dialect. The carrier frequency in these communities has been predicted to be as high as 1 in 10 individuals. Prior to beginning newborn screening for GA1 in May 1998, 18 of 20 affected patients diagnosed at this center have been from these high-risk communities. Most have followed an acute encephalopathic course with permanent neurologic sequelae and high mortality. They excrete small amounts of glutaric acid and 3-hydroxyglutaric acid and have significant residual enzyme activity. A single homozygous mutation in glutaryl-CoA-dehydrogenase (GCDH IVS-1 + 5g right arrow t) has been identified in this population. DNA-based newborn screening targeted to our high-risk communities was begun in order to provide presymptomatic detection and treatment of affected patients. Of the first 1176 newborns screened, 4 affected infants were identified and treated with a low-protein diet, carnitine, and riboflavin. All 4 infants have required numerous hospitalizations for treatment of intercurrent illnesses. Eventually, 3 infants presented with acute dystonic encephalopathy and seizures along with permanent neurological sequelae. One of these infants died unexpectedly at home at 18 months of age. The fourth, now 9 months old, has had a gastrostomy tube placed to facilitate fluid replacement in addition to a standard treatment protocol and is doing well. The reasons for our initial disappointing outcomes in the first 3 of 4 affected babies are likely multiple. Based on our early experience and that of other centers screening newborns for GA1, current therapeutic strategies may be insufficient in preventing the occurrence of neurologic sequelae in some children. An incomplete understanding of the neurotoxic mechanisms underlying this devastating disorder hampers effective management.

Canada↗

PubMedDate not supplied

[Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments].

The recent evolution of tandem mass spectrometry allows to diagnose more than twenty inherited metabolic diseases within a single blood spot. Nowadays, it is technically possible to screen newborns for most of fatty acid oxidation, organic acid and amino acid disorders. An important number of prospective pilot studies, using tandem mass spectrometry, have been done worldwide. However, several technical, economical, medical and ethical problems are raised by these applications. This review is intended to focus on this technology and to resume results from the main international studies.

Forecasting↗