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PubMedDate not supplied

Semi-objective method for auditory mass screening of neonates.

An instrument called the Accelerometer Recording System (ARS) was developed for graphically recording responses of neonates to auditory stimulation. Its main component, is an accelerometer, which picks up vibrations of the crib, caused by the response movements of the infant. In a pilot study with 400 newborns, a distinct record was registered in all but seven. The ARS seems to offer a semi-objective test procedure which is short, simple and reliable. It promises to be a valid test method for mass screening of newborns for early detection of profound hearing loss.

Acoustic Stimulation↗

PubMed1981

[Rapid screening for neonatal infection by employing new techniques for the use of the nitroblue tetrazolium test (NBT) (author's transl)].

A new method for carrying out the nitroblue tetrazolium test (NBT) has been used on micro-specimens taken from 116 newborn infants for the purpose of carrying out a prospective enquiry into neonatal infection. 44 children aged from 1 to 6 days were selected at random from a population that was said to be normal in the maternity unit and were the control group. 72 children of less than 48 hours of age were made to object of a prospective study of neonatal infection, an enquiry that allowed them to be divided into 3 groups: non-infected, infected and suspect. The study showed a very strong correlation between raised scores (higher than 100) and the presence of an infection, whereas scores in the controls and the non-infected infants were low. This test, which is hardly invasive and easy to introduce as a routine when carried out early is a good screening test for infection and can be best used on the newborn population in a maternity unit.

Bacterial Infections↗

PubMed2004

Diagnosis of hearing impairment: factors of delay.

In a retrospective study based on parents' personal interviews, the diagnosis circumstances were analysed in a group of 88 deaf children (moderate to profound deafness). We reported first the age when the parents emitted doubts, and second the age of diagnosis. It appeared that the age of first suspicions, and of diagnosis, was correlated to the degree of deafness. The population of children was divided in two groups depending on the presence of a delay or not in the diagnosis. The first group (24 children) was diagnosed early because of neonatal screening, or of early suspicions by parents or pediatrician. In the second group (64 children) were a delay was observed, seven causes were identified with variable frequency according to the level of deafness. The first four main causes for delayed diagnosis were: 1) parents, 2) medical refutation, 3) otitis media with effusion (OME), 4) progressive hearing loss. In conclusion, the age of diagnosis and the age of first suspicions were too late. Universal neonatal screening is recommended but do not appear to be the exclusive procedure to reduce the diagnostic's delay. This analysis of the factors of delay, prompted us to recommend: 1) information to parents on deafness, 2) careful attention to parents suspicions, 3) an objective evaluation of auditory function,especially after OME cure and 4) a follow-up of children to identify progressive hearing loss.

Age Factors↗

PubMed1989

Transient primary hypothyroidism in the newborn: experience of the Victorian Neonatal Thyroid Screening Programme.

Between May 1977 and December 1986, the Victorian Thyroid Screening Programme tested approximately 570,000 newborns for congenital hypothyroidism. One hundred and sixty-six cases of primary hypothyroidism, confirmed by formal thyroid function tests, were identified, of which 24 were later found to be transient. In addition, there were two patients with permanent dyshormonogenesis who passed through a stage of being biochemically euthyroid and so could have been diagnosed mistakenly as transient hypothyroidism. Fourteen of the transient cases were due to excessive intake of iodine. In two, this was due to maternal ingestion of iodide during pregnancy and in 12 the babies received large amounts of topical iodine antiseptic. Two cases were caused by maternal anti-thyroid antibodies and in eight instances the cause was unknown. The large number of cases due to the topical application of iodine antiseptic emphasizes the need for caution when using this substance in neonates.

Female↗

PubMed1999

[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism].

BACKGROUND: Symptomatic forms of hyperphenylalaninemia are rare in France since neonatal screening began. CASE REPORT: A child born in Algeria from consanguinous parents was referred at 2 years of age for a severe epileptic encephalopathy with hypotonia. Amino acid chromatography revealed hyperphenylalaninemia due to a dihydropteridine reductase deficiency. Dietary restriction of phenylalanine and oral administration of amine precursors, L-dopa and 5-hydroxytryptophan had poor efficiency on epilepsy and psychomotor delay. CONCLUSION: Diagnosis of hyperphenylalaninemia must be evoked in any children with progressive encephalopathy born in country where neonatal screening is not performed.

5-Hydroxytryptophan↗

PubMed1992

DNA elution and amplification by polymerase chain reaction from dried blood spots.

A quick, sensitive and easily automatizable method for PCR amplification of genomic DNA eluted from dried blood spots is described. DNA is eluted from a 3-mm spot routinely used for neonatal screening of inherited diseases either by boiling or by sonication. A preliminary and brief spot-autoclaving step is mandatory to ensure optimal and reproducible PCR amplifications. Only 1% of the eluted DNA is required for PCR analysis allowing the execution of multiple genetic tests on the same blood spot. The method has been successfully applied to the detection of a known phenylketonuria-causing mutation and will facilitate the analysis of the genetic repository provided by Guthrie's cards stored in neonatal screening laboratories.

Base Sequence↗

PubMed2003

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

Congenital deficiency of carnitine palmitoyltransferase (CPT) II has been known for at least 30 years now, and its phenotypic variability remains fascinating. Three distinct clinical entities have been described, the adult, the infantile, and the perinatal, all with an autosomal recessive inheritance pattern. The adult CPT II clinical phenotype is somewhat benign and requires additional external triggers such as high-intensity exercise before the predominantly myopathic symptoms are elicited. The perinatal and infantile forms involve multiple organ systems. The perinatal disease is the most severe form and is invariably fatal. The introduction of mass spectrometry to analyze blood acylcarnitine profiles has revolutionized the diagnosis of fatty acid oxidation disorders including CPT II deficiency. Its use in expanded neonatal screening programs has made presymptomatic diagnosis a reality. An increasing number of mutations are being identified in the CPT II gene with a distinct genotype-phenotype correlation in most cases. However, clinical variability in some patients suggests additional genetic or environmental modifiers. Herein, we present a new case of lethal perinatal CPT II deficiency with a rare missense mutation, R296Q (907G>A) associated with a previously described 25-bp deletion on the second allele. We review the clinical features, the diagnostic protocol including expanded neonatal screening, the treatment, and the biochemical and molecular basis of CPT II deficiency.

Adult↗

PubMed1990

Long-term follow-up of a cohort of children with alpha-1-antitrypsin deficiency.

We assessed lung function, liver function, and smoking attitudes and behavior in 22 adolescents with homozygous alpha 1-antitrypsin deficiency whose condition had been detected through neonatal screening in the early 1970s. All subjects had normal lung volumes, expiratory flow rates, and diffusing capacity except for two siblings with mild asthma whose values reverted to the normal range after administration of an inhaled bronchodilator. Liver function was normal in all subjects with the exception of one boy who had an isolated elevation of alkaline phosphatase activity. Smoking attitudes, as determined by questionnaire, did not differ from those of 130 control subjects, but smoking initiation rates were significantly lower (p = 0.02). We believe that the issue of neonatal screening for alpha 1-antitrypsin deficiency should be reexamined because augmentation therapy for adults with emphysema is now available, and screening followed by family-based smoking intervention may lead to a nonsmoking life-style. The latter is especially important because the current weight of epidemiologic evidence strongly suggests that in nonsmokers with this condition, severe emphysema may never develop or, if it does, it will do so at a much later age than in smokers.

Adolescent↗

PubMed2003

The feasibility of using ethnicity as a primary tool for antenatal selective screening for sickle cell disorders: pointers from the research evidence.

The Department of Health has announced a linked antenatal and neonatal screening programme for haemoglobinopathies by 2004 in a comprehensive national plan for the National Health Service in Britain. In response the National Screening Committee has commenced development work on how such a programme can best be implemented, including investigation of the effectiveness of a question about ethnic origin as a basis for selection. In addition, two recent health technology assessment reports have assessed alternative options for antenatal and neonatal haemoglobinopathy screening programmes in the United Kingdom. Both reports and commentators have emphasised the importance of developing a standardised instrument for collecting ethnicity data and recommended early development of such work. An examination of the evidence base on the use of ethnicity as a primary screening tool reveals substantial variability in practice and in the quality of data collected, with risk group misclassification as high as 20% against a recommended target of under 5.5%. The literature on the conceptual basis and structure of ethnicity questions, method of assignment in data collection, and level of resolution on categorisation is reviewed to identify the most appropriate content and format of a screening question for the haemoglobinopathies. Question options are evaluated, including the use of an extended 2001 Census classification and a 'non-North European' identifier and a candidate question based on 'family origins' is offered for debate. Finally, issues relating to the testing of the efficiency of an ethnicity question and the operationalising of its use for antenatal sickle cell screening are discussed.

Ethnicity↗

PubMed1993

Brain MRI changes in phenylketonuria. Associations with dietary status.

Following the introduction 30 years ago of neonatal screening and early dietary treatment for phenylketonuria there has been a dramatic decrease in the severity of neurological dysfunction associated with this disorder. However, there is evidence that subtle neurological impairment remains common in early treated subjects and in the last 3 years there have been a number of reports of overt neurological impairment with white matter abnormalities on MRI. The frequency of white matter changes in phenylketonuria, and the relation of these changes to dietary management, have remained unclear. The present study examines MRI findings in 34 subjects aged 8-33 years. Twenty-five subjects had been detected by routine neonatal screening and nine had been missed in the screening programme. At the time of the investigation 16 of the early treated and two of the late treated subjects were still receiving a diet low in phenylalanine. All but two of the 34 subjects showed abnormalities on MRI. In the early diagnosed group it could be shown that the severity of MRI changes (graded 1-5) was significantly and independently associated with phenylalanine concentrations at the time of investigation and the time since dietary treatment had been withdrawn. These data are consistent with studies in animals showing that hyperphenylalaninaemia increases myelin turnover in a dose dependent manner. It is suggested that the effects of phenylalanine on myelin pose a lifelong hazard to the nervous system.

Adolescent↗

PubMed2001

Low incidence of toxoplasma infection during pregnancy and in newborns in Sweden.

To estimate the burden of disease due to congenital toxoplasmosis in Sweden the incidence of primary infections during pregnancy and birth prevalence of congenital toxoplasmosis in 40,978 children born in two regions in Sweden was determined. Women possibly infected during pregnancy were identified based on: 1, detection of specific IgG based on neonatal screening of the phenylketonuria (PKU) card blood spot followed by retrospective testing of stored prenatal samples to detect women who acquired infection during pregnancy and follow up of their children to 12 months: 2, detection of specific IgM on the PKU blood spot. The birth prevalence of congenital toxoplasmosis was 0.73/10,000 (95 % CI 0.15-2.14) (3/40,978). The incidence of primary infection during pregnancy was 5.1/10,000 (95% CI 2.6-8.9) susceptible pregnant women. The seroprevalence in the southern part was 25.7% and in the Stockholm area 14.0%. The incidence of infection during pregnancy was low, as the birth prevalence of congenital toxoplasmosis. Neonatal screening warrants consideration in view of the low cost and feasibility.

Algorithms↗

PubMed2001

Prevalence of congenital Toxoplasma gondii infection among newborns from the Poznań region of Poland: validation of a new combined enzyme immunoassay for Toxoplasma gondii-specific immunoglobulin A and immunoglobulin M antibodies.

We determined the value of a new serological assay detecting Toxoplasma-specific immunoglobulin M (IgM) and IgA antibodies at birth for use in mass neonatal screening. The incidence of congenital infection in newborns was compared with data from an epidemiological investigation on the seroprevalence of Toxoplasma in the studied population. Peripheral blood was collected on Guthrie cards during the first 3 days of life and tested for anti-Toxoplasma IgA and IgM using a noncommercial immunocapture enzyme-linked immunosorbent assay (ELISA). When the screening assay was positive, serum samples from the child and the mother were collected for use in Western blotting comparative immunological profile analysis and traditional serological tests for determination of specific IgG, IgM, and IgA antibodies. From December 1998 to April 2000, 17,653 filter paper samples from live-born neonates were successively screened. Congenital T. gondii infection was finally confirmed in 19 newborns. In traditional assays, 13 of 19 infants were IgM and IgA positive using filter paper eluates at birth, 1 child was positive only for IgM, 1 patient was positive for IgM and borderline for IgA, 1 had an equivocal level of IgA, and 3 cases were confirmed only by the Western blot assay. The prevalence of Toxoplasma-specific IgA and/or IgM in filter paper samples at birth was 1 per 929 live-born neonates (1.08/1,000) or about 1 per 523 children (1.9/1,000) born to nonimmune women with a potential risk of primary T. gondii infection during pregnancy, compared to the actual seropositivity rate of 43.7%. The diagnostic sensitivity of the combined IgA-IgM ELISA using neonatal filter paper specimens was not more than 95%, the positive predictive value of the test was 82.6%, and the diagnostic specificity was calculated to be 99.9%. The combined IgA-IgM ELISA is a valuable method for the diagnosis of congenital toxoplasmosis at birth and fulfills criteria for neonatal screening programs. The method showed a good diagnostic sensitivity in neonates untreated prenatally who were born in an area of high seroprevalence of T. gondii infection.

Animals↗

PubMed1995

Home monitoring of 17 alpha-hydroxyprogesterone levels by filter paper blood spots in patients with 21-hydroxylase deficiency.

BACKGROUND: 21-Hydroxylase (21-OH) deficiency is characterized by an excess of androgen in both sexes and premature skeletal maturation resulting in short adult stature and male infertility. To achieve optimal height in children and fertility in adults, the replacement treatment of 21-OH deficiency with glucocorticoids should be regulated in order to adequately reduce the excess of androgens while minimizing the dose of glucocorticoids required. Neonatal screening for 21-OH deficiency is based on the measurement of the 17 alpha-hydroxyprogesterone (17-OHP) level from blood spotted on filter paper. The aim of this study was to examine whether repeated daily blood sampling on filter paper can assist in improving the monitoring of, and compliance to, 21-OH deficiency treatment. METHODS: During a 5-year period (1989-1994) we instructed 8 patients with 21-OH deficiency (2 males with salt losing, 2 males and 1 female simple virilizing, and 1 male and 2 females with nonclassical 21-OH deficiency) aged 1.3-36 years to sample blood on filter papers 1-4 times a day and send the papers to our neonatal screening laboratory by mail. On 62 occasions we measured both serum and filter paper 17-OHP levels in order to assess the degree of correlation between the two methods. RESULTS: Comparison between the filter paper and serum 17-OHP levels showed a correlation coefficient of r = 0.87. The filter paper levels were almost always higher than the serum levels. The serum 17-OHP levels were < 1 ng/ml whenever the filter paper levels were < 3 ng/ml. On long-term follow-up of 17-OHP filter paper levels we observed major diurnal and day-to-day fluctuations which might not have been noticed on routine follow-up clinic visits. CONCLUSIONS: Filter paper follow-up of 17-OHP levels can assist in optimizing the replacement treatment in patients with 21-OH deficiency while reinforcing compliance and decreasing the need for frequent clinic visits and hospitalizations. By adjusting the glucocorticoid type, dose, and time of administration to each patient we should be able to achieve optimal growth without bone age acceleration in children, to avoid overtreatment, and to improve fertility in adults.

17-alpha-Hydroxyprogesterone↗

PubMed2003

Sulfadiazine and pyrimethamine in the postnatal treatment of congenital toxoplasmosis: what are the options?

Pre- and neonatal screening for congenital toxoplasmosis rests upon the assumption that treatment is beneficial on either acute symptoms or in preventing later reactivation. Postpartum treatment of congenital toxoplasmosis with sulfadiazine and pyrimethamine has remained almost unchanged for 50 years. More recently, sulfadiazine has been substituted by sulfadoxine, which has a much longer half-life and provides a basis for a dose schedule with higher compliance. Newer drugs with potential effects against Toxoplasma gondii, such as azithromycin, atovaquone and clindamycin, require further evaluation in animal models and human studies. No randomized controlled trials have ever been conducted. The available studies are either observational studies of groups of referred patients or observational studies with historical controls accrued over many years, often decades. Pre- and neonatal screening for congenital toxoplasmosis is performed on more than two million pregnant women every year in Europe, North and South America at the estimated cost of more than 500 million annually. The benefit needs to be documented by a prospective, placebo-controlled randomized study, which needs to be organized and financed by the countries performing nationwide, universal screening programs.

Humans↗

PubMed1997

Brain magnetic resonance imaging in congenital hypothyroid infants at diagnosis.

The aim of our study was to investigate the central nervous system (CNS) morphology and myelination with magnetic resonance imaging (MRI) in congenital hypothyroid (CH) infants detected by neonatal screening before replacement therapy. We studied 11 CH infants, 9 girls and 2 boys, mean age 22 days, 3 with aplasia, 5 with ectopia, 2 with hypoplasia of the thyroid gland, 1 with unknown diagnosis. As normal controls 22 term newborns (38 to 41 weeks of gestational age) were studied. MRI studies were performed with a 1.5-T magnet, extremity coil, T1-weighted and heavily T2-sequences axial sections were obtained. No sedation was needed for the MRI studies. MRI brain examination was normal in all patients compared with controls. In particular, no differences in the myelination patterns of the brain were observed between normal subjects and patients with hypothyroidism. Our study shows no morphological brain abnormalities in CH infants detected by neonatal screening before replacement therapy. Perinatal hypothyroidism seems to have no effect on CNS structures.

Brain↗

PubMed2004

Biotinidase deficiency: a treatable leukoencephalopathy.

The clinical history and the neuroradiological findings have been reviewed for 5 patients with biotinidase deficiency. Patients were diagnosed in the UK, where neonatal screening for this disorder is not done. The age at presentation ranged from 4 weeks to 5 months and the median interval between presentation and diagnosis was 5.5 months. The main abnormalities on cerebral imaging were leukoencephalopathy and widening of the ventricles and extra-cerebral CSF spaces. White matter abnormalities included delayed myelination but, in some patients, the increased signal was too great to be explained just by failure of myelination. Subtle subcortical changes were the only abnormality in one patient. Follow-up studies after treatment with biotin showed improved myelination; in one case, this was accompanied by normalisation of the CSF spaces but another patient showed progressive atrophy and cystic degeneration. Most of these patients have neurological sequelae. Biotinidase deficiency should be excluded in all patients with unexplained neurological problems. Neonatal screening provides the best chance of a good outcome.

Biotinidase Deficiency↗

PubMed1994

Blood spot follicle-stimulating hormone during early postnatal life in normal girls and Turner's syndrome.

Although FSH has previously been found to be elevated during infancy in agonadal subjects, it is not known whether perinatal FSH levels are also increased. Neonatal blood spot FSH levels were studied retrospectively in nine full term girls born with Turner's syndrome and compared with presumably normal full term girls born the same week. FSH was measured using a highly specific immunoradiometric assay adapted to blood spots collected at the time of systematic neonatal screening. On day 5-6 after birth, FSH was undetectable (< 1 IU/L) or low (1-4.4 IU/L) in normal girls. Among the nine patients with Turner's syndrome, five had FSH levels below 3 IU/L, and four showed slightly elevated levels, ranging from 4.3-10.9 IU/L. These differences in FSH secretion were not related to differences in karyotype. Among five patients studied longitudinally during the first 6 weeks of life, three showed increases in FSH levels to 14.9-15.9 IU/L during the second week of life. However, this increase was comparable to that seen in some normal girls sampled on a second occasion during the first weeks after birth. One patient with Turner's syndrome still had low FSH (2.5 IU/L) on day 23, but showed some increase to 8.5 IU/L on day 30. We conclude that 1) in Turner patients, perinatal changes in FSH secretion are similar to those in normal girls, although there is already a lack of feedback control by gonadal hormones on the hypothalamo-pituitary axis; and 2) the FSH assay cannot be used for neonatal screening of Turner's syndrome.

Female↗

PubMed1997

Comparison of four different phenylalanine determination methods.

The ISOLAB NCS phenylalanine determination kit has not been widely applied for neonatal screening and patient follow up in Europe until now. This method, based on fluorescence enhancement of a phenylalanine-ninhydrin reaction product by the dipeptide L-leucyl-L-alanine, was compared with three other procedures: (1) The Quantase kit (Shield Diagnostics) for enzymatic determination of phenylalanine, (2) the standard amino acid analysis by means of ion exchange chromatography, and (3) the Guthrie Test as a bacterial inhibition assay (BIA). Only authentic samples from PKU patients were evaluated: once with the NCS kit and at least once with one of the three other methods. There was good agreement between the results obtained by the NCS kit using dried blood specimens and either of the other three methods, as well as between the NCS kit using plasma samples and the Quantase kit and ion exchange chromatography. Plasma sample measurement by NCS proved advantageous because of the option of measuring each microtiter plate twice by resetting the calibrators, i.e. special standards for plasma samples could be used on the same plate. We conclude that this method should prove time saving and cost effective when both neonatal screening and patient follow up are carried out in the same laboratory.

Humans↗