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PubMed2001

[Evaluation of diagnosis and follow-up in screened children with cystic fibrosis in Normandy].

The neonatal screening programme in Normandy (France) allowed the formation of a homogenous cystic fibrosis (CF) cohort of 150 children diagnosed between 1980 and 1997. At the time of this retrospective study, 11 were deceased, out of which nine had meconium ileus (eight deaths after surgery, one at 5 years of age). Sixty children born between 1980 and 1993 in the Basse-Normandie region were followed up during a mean 80 months following similar protocols. The mean age at diagnosis was 41 days (SD = 27 d) for infants without meconium ileus. The occurrence of Pseudomonas aeruginosa (P. aeruginosa) infection and chronic colonization was studied using a monovariate followed by a multivariate analysis including the following variables: sex; meconium ileus; anthropometric data at birth and at diagnosis; pancreatic insufficiency; radiological data (Brasfield score); microbiology data at diagnosis; and genetic data. P. aeruginosa infection appeared earlier in children with pancreatic insufficiency (OR = 2.2; p < 0.05) or with radiological abnormalities (Brasfield score < 21) at diagnosis (OR = 3.9; p < 0.05). Meconium ileus (OR = 5.3; p < 0.01), pancreatic insufficiency (OR = 3.8; p < 0.01) and Brasfield score < 21 at diagnosis (OR = 5.6; p < 0.001) were prognosis factors for early chronic P. aeruginosa colonization. In CF children without meconium ileus, the major risk factor found through multivariate analysis for earlier infection and for earlier chronic colonization by P. aeruginosa was a diagnosis delay > 40 days (respectively OR = 4.6; p < 0.001 and OR = 10.4; p < 0.005). These results must be compared with the lower Brasfield score at diagnosis in infants diagnosed after 40 days of life (p < 0.01).

Adolescent↗
PubMed1999

Why screen for cystic fibrosis? A clinician's view.

Cystic fibrosis (CF) is relatively common, serious, and causes progressive lung damage. Clinical diagnosis may be delayed until lung damage has occurred, and infection may start as early as six weeks of life. A well organised screening programme should identify the great majority of affected infants within the first three weeks after birth, which leaves a small time window during which effective preventive treatment and surveillance may be instituted. Active treatment, whether for screened or unscreened infants, improves clinical status and long-term survival of CF patients. It is anticipated that new treatments will become available within the next few years, and these will clearly give maximal benefit to young infants if instituted before lung damage is evident. In addition to any hypothetical effects on morbidity and survival, pre-symptomatic diagnosis greatly improves the doctor-parent relationship. Economic arguments may be distorted, but, at best, screening is cost-beneficial, and, at worst, it is cost-neutral. The overwhelming majority of CF professionals and parents universally support neonatal screening, so the onus is therefore on those who oppose screening to prove that their approach offers a superior strategy.

Cystic Fibrosis↗
PubMed2000

Neonatal congenital hypothyroidism screening in Addis Ababa, Ethiopia.

OBJECTIVES: To determine the prevalence of congenital hypothyroidism, establish reference levels for thyroid stimulating hormone (TSH), and determine the cut-off points of TSH level for neonatal screening in congenital hypothyroidism. DESIGN: A cross-sectional study. SETTING: Ghandhi Memorial, Zewditu, Tikur Anbessa and St Paulo's referral hospitals in Addis Ababa, Ethiopia, from July 1996 to January 1997. SUBJECTS: Four thousand two hundred and six consecutive newborns. MAIN OUTCOME MEASURES: TSH and T4 values using standard TSH level estimation approach. RESULTS: The overall mean TSH value was 9.6 mIU/l with standard deviation of 7.8 mIU/l. Transient hypothyroidism occurred in 3.6% of the neonates. No true case of congenital hypothyroidism was identified. The mean(SD) sampling time was 12.8(6.7) hours and the recall rate 4.8%. Most neonates (98.6%) were screened at or less than 24 hours of age. Twins had lower mean TSH value of 7.9(SD=6.4) mIU/l than single neonates with 9.6(SD=7.8) mIU/l, while females had significantly lower mean TSH value of 9.4(SD=7.9) mIU/l than males of 9.8(SD=7.6) mIU/l. The mean TSH level decreased significantly as sampling time increases, the mean TSH level for neonates older than 24 hours is significantly lower than the mean TSH level for those with 24 hours old or less. No significant difference was found in the mean TSH levels in relation to maternal age, parity and gestational age. No significant correlation was found between TSH value and birth weight (r=0.02), height (r=0.03), and head circumference (r=0.02) of the neonates. The most appropriate TSH level cut-off point was found to be at 29.4 mIU/l. The reference range (the range between 2.5th and 97.5th percentiles) for serum thyrotrophin value was higher in the age range of 6 to 12 hours and then declined. CONCLUSION: This pilot study has highlighted important findings, however larger studies should be conducted to assess the magnitude and associated factors of congenital hypothyroidism because congenital hypothyroidism represents one of the most common preventable causes of mental retardation.

Congenital Hypothyroidism↗
PubMed2005

The genetics of neonatal respiratory disease.

This chapter reviews some of the genetic predispositions that may govern the presence or severity of neonatal respiratory disorders. Respiratory disease is common in the neonatal period, and genetic factors have been implicated in some rare and common respiratory diseases. Among the most common respiratory diseases are respiratory distress syndrome of the newborn and transient tachypnoea of the newborn, whereas less common ones are cystic fibrosis, congenital alveolar proteinosis and primary ciliary dyskinesias. A common complication of neonatal respiratory distress syndrome is bronchopulmonary dysplasia or neonatal chronic lung disease. This review examines the evidence linking known genetic contributions to these diseases. The value and success of neonatal screening for cystic fibrosis is reviewed, and the recently characterised contribution of polymorphisms and mutations in the surfactant protein genes to neonatal respiratory disease is evaluated. The evidence that known variability in the expression of surfactant protein genes may contribute to the risk of development of neonatal chronic lung disease or bronchopulmonary dysplasia is examined.

ATP-Binding Cassette Transporters↗
PubMedDate not supplied

[Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population].

OBJECTIVES: To investigate the prevalence of the 35delG mutation in a newborn population, with specific molecular testing, and to evaluate the prospects for genetic neonatal screening for hearing impairment. POPULATION AND METHOD: 233 newborn were evaluated at the Hospital de Base de São José do Rio Preto, SP, for molecular analysis of the 35delG mutation in the connexin 26 gene, with the reaction technique in allele-specific polymerase chain reaction, after genomic DNA extraction from umbilical cord blood. RESULTS: Five heterozygotes were identified, obtaining a prevalence of 2.24% of 35delG mutation carriers in the study population. CONCLUSION: Using the molecular test allowed for the identification of the 35delG mutation in the study population with the possibility of being used as a complement to neonatal audiometric screening as being simple, fast, and easily to perform with low costs.

Brazil↗
PubMedDate not supplied

Effectiveness of child-health screening.

Screening for sensory problems in pre-school children often fails to detect a significant number of hearing problems sufficiently early. Evidence suggests neonatal screening is more effective and cost-effective than the infant distraction test at detecting congenital hearing loss. It is not yet clear how best to identify children with speech and language delay who will fail to progress without treatment.

Child Health Services↗
PubMed2002

Acylcarnitine profiles of preterm infants over the first four weeks of life.

Measurement of free carnitine and acylcarnitines allows the detection of several inborn errors of metabolism in neonatal screening. Because available data for premature infants is limited, we studied longitudinal changes in acylcarnitine profiles of full-term and preterm neonates over the first 4 weeks of life. One hundred twenty infants were divided into four groups of 30: A, gestational age 22 to 27 wk; B, 28 to 31 wk; C, 32 to 36 wk; and D, 37 to 41 wk. Blood samples spotted on a Guthrie card were taken on days 5 and 28. Additional specimens (groups A and B only) were collected on days 1, 3, 7, and 14. Carnitine and its acyl esters were detected by looking for the precursor ions of m/z = 85 using a PE Sciex API 365 electrospray ionization tandem mass spectrometer. Concentrations of free carnitine and most acylcarnitines were significantly higher in group A compared with group D postnatally. Groups B and C displayed intermediate values. Carnitine levels in infants from group A and B decreased steadily from day 1 to day 7, and recovered up to day 14 in group B only. On day 28 carnitine concentrations had further decreased in group A, while reaching postnatal levels again in group B. Postnatal carnitine levels are higher in very immature preterm infants compared with full-term infants, but become lower on day 28. However, the commonly used metabolite ratios should still allow the detection of inborn errors of metabolism.

Carnitine↗
PubMed1990

Duchenne and Becker muscular dystrophies: genetics, prenatal diagnosis, and future prospects.

DMD and BMD are now understood at the genetic, biochemical, and molecular levels. At the genetic level, both disorders result from mutations of the X-linked gene encoding dystrophin. At the biochemical level, DMD results from the deficiency of a large protein called dystrophin, whereas BMD results when dystrophin is present, though abnormal in either amount or molecular structure. To date, thousands of patients have been analyzed for mutations of the dystrophin gene in peripheral blood DNA or alterations of the dystrophin protein in muscle tissue. The severity of the clinical phenotype of these patients has been compared with their dystrophin gene mutations and corresponding dystrophin protein alterations, revealing an unexpectedly high degree of correlation. Thus, information derived from the molecular analysis (DNA or protein) of a particular patient provides a "molecular diagnosis," which is highly predictive of the clinical course that patient can be expected to follow. Because molecular diagnoses are independent of the patient's age, they provide a prognosis for the large majority of muscular dystrophy patients even before clinical symptoms of their disease become apparent. Such prognostic molecular diagnoses have proven particularly valuable when the patient is an isolated case, with no family history for the disorder. Prenatal genetic diagnosis of DMD or BMD may involve use of Southern blot or PCR techniques to search for a deletion in the DNA of at-risk fetuses or more complicated family linkage studies using intragenic and flanking RFLPs. More recently, assay of dystrophin content in fetal skeletal or cardiac muscle from at-risk abortuses has been accomplished, allowing definitive discrimination of affected and normal fetuses in cases in which deletion analyses and family DNA studies were equivocal. In utero fetal skeletal muscle biopsy for dystrophin protein assay has actually been accomplished in at least one at-risk pregnancy in which family DNA studies were uninformative. Dystrophin was present in skeletal muscle from this 20-week-old male fetus, and the pregnancy continued, resulting in the term birth of a healthy male infant. The future holds exciting opportunities for neonatal screening and treatment of these devastating neuromuscular diseases.

Dystrophin↗
PubMed1998

Congenital cytomegalovirus infection in a northern Italian region. NEOCMV Group.

Knowledge of the prevalence of congenital cytomegalovirus infection is necessary to evaluate the need for prevention. We performed a multicentre one-year study involving 11 neonatology divisions to ascertain the prevalence in Lombardy. Cytomegalovirus was isolated by culturing saliva samples from all babies born (n = 1268) of two 15-day sample periods and from 185 neonates with suspected congenital CMV based on clinical and laboratory findings and the history. The overall prevalence of congenital infection was 0.47% (6/1268) in the sample period group and 5% (9/185) in the second group. Clinical monitoring revealed sequelae in two of three children with symptomatic infection and no asymptomatic child at age two years. In a subgroup of 205 babies including 14 of the infected infants we also evaluated a test to detect cytomegalovirus DNA in the Guthrie cards obtained in neonatal screening for genetic and metabolic disorders. The test's sensitivity was 100% and specificity 98.5%, encouraging its use for early identification of infected neonates and for large epidemiological studies.

Child, Preschool↗
PubMed2001

[Glucose-6-phosphate dehydrogenase et neonatal jaundice].

OBJECTIVE: Since 1986, quantification of G6PD activity has been a routine test for all babies born at the public maternity hospitals of Marseilles. The objective of our study was to determine the prevalence of G6PD deficiency in the population tested and to evaluate the relative risk of neonatal jaundice in newborns with G6PD deficiency. METHODS: Neonatal screening is performed on cord blood by spectrophotometric measurements of G6PD activity. A group of 7779 newborns was studied retrospectively. The occurrence of neonatal jaundice was evaluated in 85 children with G6PD deficiency and compared to 85 children with normal G6PD activity. RESULTS: The incidence of G6PD deficiency in male newborns was found to be 2.1%. The relative risk for neonatal jaundice in the G6PD deficient population compared to the non-deficient population is estimated to be 2.6. CONCLUSION: Neonatal jaundice with pathological hyperbilirubinemia develops more frequently in cases of G6PD deficiency. The early characterization of G6PD activity provides an etiological diagnosis for neonatal jaundice, as well as the opportunity to give the newborn's family information concerning hemolytic crisis prevention.

Cohort Studies↗
PubMed2002

Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency: the case for screening all newborns.

Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency is the most common inborn error of fatty acid oxidation with a frequency of 1 in 12,000, an estimated four new cases in the state of Oklahoma each year. The first clinical manifestation is a hypoglycemic episode any time between the newborn period to adulthood. Largely due to failure of diagnosis, the first episode can be lethal, with a frequency of early mortality of 25%. We report a child with MCAD deficiency admitted to the OU Medical Center-Children's Hospital to illustrate the molecular basis, clinical features, and management of the disorder and to present the pros and cons of instituting newborn screening in our state. Such screening is already part of routine newborn metabolic screening in four states. In Oklahoma and elsewhere, there is current discussion, which we summarize, on whether or not to include MCAD deficiency in the routine neonatal screening program. We suggest the evidence says, "Start now."

Acyl-CoA Dehydrogenase↗
PubMed1994

An unusual distribution of glucose-6-phosphate dehydrogenase deficiency of south Indian newborn population.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is seen at a higher frequency in many national and ethnic groups in areas of current or former malaria endemicity. A screening programme undertaken to evaluate the gene frequencies for this deficiency in the highly inbred South Indian population of Karnataka revealed that of the 5140 neonates screened, 7.8% were G6PD deficient with no correlation between the reported level of inbreeding and enzyme deficiency. An interesting finding was the equal number of male (198) and female (207) individuals, with G6PD activity of less than 3 IU. The possible implications of this finding with regard to the expression of G6PD gene is discussed.

Double-Blind Method↗
PubMed1999

Principles and performance: assessing the evidence.

Despite the apparent rigour of the systematic review process there are a number of reasons why it may not accurately reflect the true state of current knowledge. For inborn errors of intermediary metabolism in general, the formal quality of literature on treatment is poor, partly because the rarity of the conditions makes systematic study difficult, partly because of the self-evident evidence paradox with treatments that are so obviously life-saving, and partly because of the widespread use of biochemical normalisation as a proxy outcome. In the field of newborn screening there is a paucity of formal trials so that assessment must be either by the 'causal pathway' approach or by reference to screening "criteria". The causal pathway approach may be misleading in that there are discontinuities, for example in projecting from known incidence (clinically diagnosed cases) to the incidence expected on screening. The criteria-based approach suffers from qualitative descriptors, such as "important" and "adequate", with no clear end-points, whilst in the context of neonatal screening some of the Wilson and Jungner criteria conflict with current evidence-based views. These problems are illustrated by reference to two reviews recently produced as part of the UK Health Technology Assessment Programme.

Female↗
PubMed2004

HIV prevalence in pregnant women in an ethnically diverse population in the UK: 1998-2002.

OBJECTIVE: To describe trends in the prevalence of HIV in an ethnically diverse population of pregnant women in the United Kingdom. METHODS: Data on parental country of birth from national birth registration records were linked to neonatal dried blood spot samples routinely collected for neonatal screening in the North Thames region between 1998 and 2002. Identifiers were subsequently irreversibly deleted prior to establishing maternal HIV status by testing the neonatal samples. RESULTS: A total of 491 213 dried blood spot samples were collected, and 490 879 (99.93%) were tested for HIV. Of these, 1029 were seropositive. There was an overall significant increasing trend (P-value = 0.001) between 1998 and 2002. Maternal region of birth was available for 89.8% of HIV-infected samples, and, among these, 80.5% of mothers were born in sub-Saharan Africa and 11.1% in the UK. The highest prevalences of HIV were in women born in sub-Saharan Africa (2.09%). If both parents were born in the UK, overall seroprevalence was 0.016%. CONCLUSION: HIV infection in pregnant women in the UK continues to occur predominantly in women born in sub-Saharan Africa with prevalence in this group increasing significantly. Although the absolute number of HIV-infected women rose in some other groups, there was no evidence for a statistically significant rise in HIV prevalence in women born outside sub-Saharan Africa. Over 93% of children at risk of vertical transmission of HIV had at least one parent born abroad. This paper underlines the value of data linkage in monitoring HIV prevalence in a diverse population.

Adult↗
PubMed2005

Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.

AIM: Currently, the only metabolic disorder that newborns are screened for in Finland is congenital hypothyroidism. A proposal to start a pilot study on screening for other rare metabolic diseases using tandem mass spectrometry prompted a health technology assessment project on the effect and costs of expanded newborn screening programme options. METHOD: A modelling study using data from current published studies, healthcare registers and expert opinion. RESULTS: The annual running cost of screening 56,000 newborns for the chosen five disorders (congenital adrenal hyperplasia, medium-chain acyl-CoA dehydrogenase deficiency [MCADD], long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [LCHADD], phenylketonuria [PKU] and glutaric aciduria type 1 [GA 1]) was estimated to be euros 2.5 million or euros 45 per newborn when starting costs were included. The costs per quality-adjusted life year (QALY) gained are a maximum of euros 25,500. Prevention of severe handicap in one newborn would reduce the costs to a maximum of euros 18,000 per QALY gained. CONCLUSIONS: Expanding the Finnish neonatal screening programme would require a new organization. The cost-effectiveness, resources, ethics and equity need to be considered when deciding in favour of or against starting a new screening programme.

Cost-Benefit Analysis↗
PubMed1991

Free thyroxin measured in dried blood spots from normal, low-birth-weight, and hypothyroid neonates.

We have adapted a new radioimmunoassay for free thyroxin (FT4) measurement in dried blood spots for use in neonatal screening for hypothyroidism. The method is easy, fast, and cheap. Within-assay and between-assay CVs are respectively 9.6% and 13.2%. In 997 neonates three days postpartum with normal thyrotropin concentrations, the mean FT4 concentration was 27.2 pmol/L (SD 7.3 pmol/L). There was no significant difference in mean FT4 concentration between boys and girls. FT4 concentrations increased linearly with birth weight or with gestational age, as expressed by multiple linear regression: FT4 (pmol/L) = 0.0016 birth weight (g) + 0.6931 gestational age (weeks) - 4.8772. Only gestational age significantly affected the FT4 value. For five hypothyroid infants tested on day three postpartum, FT4 values were all below the 1st percentile of values from healthy neonates. Thus, when the neonatal concentration of thyrotropin is above normal, FT4 measured in the same sample can provide a reliable earlier diagnosis of hypothyroidism.

Birth Weight↗
PubMedDate not supplied

[Standardized sonographic investigation of the lumbar spine in 247 newborns].

Open dysraphism is generally known before birth due to prenatal screening but occult spinal malformation often remains unrecognized. Nevertheless, newborns with occult dysraphism could be easily diagnosed by ultrasound, which might be performed additionally to the neonatal screening of the hips. Early surgical treatment or close neuropediatric follow-ups could be administered as a consequence. As part of a prospective study-design, we screened the spinal cord of 247 newborns by ultrasound. Parents were interviewed about a positive family history, a folate intake during pregnancy, amniocentesis or chorionbiopsy. Clinically, cutaneous stigmata usually associated with occult spinal dysraphism were evaluated. An orthopedic and pediatric examination followed. The sonographic investigation was done in prone position using a newly designed positioning device. The sonographic examination was performed within 5 minutes and longitudinal and transversal pictures were taken for documentation. In all of the 247 examined newborns we were able to visualize the cartilageous structures of the spinal cord and the dural sack detailly. Dependent on the position of the newborn, variations of the width of the dural sack could be noted. Thus a newly designed positioning device helped to standardize the examination situation. We did not find any pathological changes of the spinal cord. Nevertheless ultrasonography provides a useful diagnostic tool in investigating the newborn where occult spinal dysraphism is expected.

Female↗