SEARCH · PubMed Health

Results for “Neonatal Screening”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 271 records · Page 15Linked to original sources

PubMed2001

[Evaluation of 47,213 infants in neonatal screening for cystic fibrosis, using pancreatitis-associated protein and immunoreactive trypsinogen assays].

OBJECTIVES: The increasing evidence of the benefits of neonatal screening for cystic fibrosis (CF) indicates that this procedure could soon be implemented throughout France. The screening strategy currently used involves the detection of infants with elevated levels of immunoreactive trypsinogen (IRT) (approximately 1% of the population), followed by the detection of CFTR gene mutations. However, genetic analysis has certain drawbacks, the most important of which being the management of heterozygotes, and in France the requirement by law of previous informed consent. In cases of CF, pancreatic alterations are already present in utero. A previous study has demonstrated the value of pancreatitis-associated protein (PAP) as a screening test for CF, and has indicated that a feasible two-stage strategy could involve the following: 1) selection of infants with elevated PAP levels; 2) in this group of infants, subsequent detection of those with elevated IRT levels for direct CF diagnosis by the sweat test thereby avoiding the use of genetic analysis. The study aim was to evaluate this strategy in a large number of neonates. METHODS AND RESULTS: The aforementioned strategy was evaluated in a prospective study involving 47,213 infants in the Provence region of France. In infants with a PAP > 7.5 ng/mL (1.28%), 176 had an elevated IRT level > 700 ng/mL (0.37%). In this limited population sample (0.37% of the total), the sweat test diagnosed five cases of CF. A sixth case involving the monozygous twin of an infant with diagnosed CF remained undetected, probably because of a registration error. Genetic analysis confirmed the diagnosis, and also detected another case in an infant with two CFTR mutations but with a normal phenotype at 20 months of age. As the observed incidence was similar to that which had previously been reported, and as no further case was subsequently detected two years after the end of the study, this indicated that the sensitivity of this screening strategy was satisfactory. Its specificity makes the direct diagnosis of CF cases by the sweat test feasible, without further selection by genetic analysis. CONCLUSION: The PAP/IRT technique for CF detection seems to be suitable for mass screening, without the drawbacks of genetic testing.

Acute-Phase Proteins↗

PubMed1985

Neonatal screening for congenital hypothyroidism by measurement of plasma thyroxine and thyroid stimulating hormone concentrations.

Neonatal screening for congenital hypothyroidism was introduced in the City of Birmingham in 1980 by measuring concentrations of both thyroid stimulating hormone and thyroxine in plasma. Over two years 30 108 babies were tested. Thirty one babies were recalled because of thyroid stimulating hormone concentrations greater than 40 mU/l, of whom 12 were treated with replacement thyroxine. Six babies were found to have low thyroxine concentrations because of reduced thyroxine binding globulin and five raised thyroxine values because of increased thyroxine binding globulin. As a result of this study screening was continued with measurement of thyroid stimulating hormone only as the primary test for congenital hypothyroidism, the thyroxine value being measured only when the concentration of thyroid stimulating hormone exceeded 20 mU/l.

Congenital Hypothyroidism↗

PubMed1983

Development of a filter paper blood spot radioimmunoassay for thyroid stimulating hormone suitable for a regional neonatal screening unit.

The radioimmunoassay described measures TSH in dried whole blood spots collected from neonates onto filter paper Guthrie cards. Microgranular cellulose is added to the precipitating reagent at the critical separation stage of the assay to overcome imprecision caused by the presence of the filter paper sample disc in the tube. The method was developed for a regional neonatal screening unit and has been found to be very reliable during ten months' routine use. It was required to be as precise, sensitive, accurate, rapid, simple, and inexpensive as possible and suitable for use with automatic diluting equipment in order to process large numbers of samples. Other methods were examined for their suitability and found not to fulfil one or more of the above criteria.

Congenital Hypothyroidism↗

PubMed1993

Experience in neonatal screening for congenital hypothyroidism.

From November 1986 to June 1991, 91,683 neonates were screened for congenital hypothyroidism by measuring thyroid-stimulating hormone (TSH). 10,284 neonates were screened with chemical luminoimmunoassay (CLIA), and 80,399 screened with time-resolved fluoroimmunoassay (DELFIA). The critical value of TSH was 20 mU/L. Twenty cases were confirmed to be congenital hypothyroidism. The incidence was 1:4584, with a female to male ratio of 3:2. These patients were treated with thyroid gland desiccant, with a dosage equivalent to L-thyroxin 5-7.5 micrograms/kg/day. Their physical growth and intellectual ability were normal. 81,201 dried blood specimens were tested in single for TSH by DELFIA and T4, T3 and TSH serum testing for those with elevated TSH. No false negative and missing case was found after the screening program started. When frequent fluctuation of T4 and TSH concentration occurred at normal level in some infants, it is better to wait and have a close observation, however the treatment must be started before 3 months of age to avoid the risk of mental retardation.

Congenital Hypothyroidism↗

PubMed1996

Antiepileptic drug treatment during pregnancy and neonatal screening results.

Many antiepileptic drugs induce hepatic metabolic enzymes and thus enhance metabolism of steroid and thyroid hormones. Antiepileptic drugs readily cross the placenta and the foetal liver is metabolically active. We therefore evaluated the neonatal screening results of TSH and 17-hydroxyprogesterone in 34 study children and their matched controls. There were no statistically significant differences in the results between the groups.

17-alpha-Hydroxyprogesterone↗

PubMed1998

Maternal anxiety and attitudes to universal neonatal hearing screening.

Neonatal hearing screening of all babies within the maternity unit is now feasible using transient evoked otoacoustic emission (TEOAE) recording. However, in many maternity units in the United Kingdom, the majority of babies are discharged within the first 48 hours. During the first two days of life, there is a higher proportion of babies in whom emissions cannot be recorded. A universal TEOAE hearing screen has been implemented in Whipps Cross Hospital. As 70% of the babies are discharged from the maternity unit before they are 48 hours old, a two stage screen was implemented, with failure at the initial TEOAE test being followed by a retest after 4-6 weeks. The maternal anxiety caused by this model was investigated in 288 mothers enrolled for the initial TEOAE test. Generally, anxiety was low and attitudes towards the screen were positive. Ninety-seven per cent of mothers considered the screen to be worthwhile at the initial test with 15% feeling it had caused some anxiety but less than 1% being very worried. The mothers who had some anxieties were not dissatisfied with the screen, and within this group there was no increase in the proportion of babies who had failed the initial test. At the retest, two of 57 mothers (3.5%) considered they were very worried, but there was no significant deterioration in attitude towards the screen. Spielberger's State-Trait Anxiety Inventory revealed no significant difference in the anxiety state of the retest group when compared with a control group whose babies had not received a neonatal hearing test. The results of the initial test and the retest did not influence the anxiety state of the mothers. Ways of minimizing anxiety caused to a minority of mothers whilst maintaining positive attitudes to the screen are discussed.

Anxiety↗

PubMed1997

Objective aneuploidy detection for fetal and neonatal screening using comparative genomic hybridization (CGH).

Comparative genomic hybridization (CGH) allows entire genomes to be scanned for whole and segmental aneuploidy and thus may be an appropriate tool for the detection of clinically important abnormalities during fetal and neonatal screening. Criteria to distinguish between significant aberrations and experimental artifacts are essential for these applications. This report describes the use of a t-statistic to detect changes in CGH profiles that differ significantly from variations that occur in CGH profiles of normal samples. Eleven cell lines derived from fetal or neonatal patients were analyzed in this study. Aneuploidies in these lines included trisomies for chromosomes 13, 16, 18, and 21 and monosomy for distal 5p and tetrasomy 18p. Aneuploidy was detected in all samples by using the t-statistic, although the extent of the aneuploid region was not correctly estimated in some cases. A detailed description of the t-statistic fused for making these CGH comparisons is described in a companion paper (Moore et al., Cytometry 28:183-190, 1997.

Aneuploidy↗

PubMed1997

[Neonatal screening for hemoglobinopathies in the Brussels region].

We realised this study in order to determine the frequency of abnormal haemoglobins and to appreciate the need for a neonatal screening for haemoglobinopathies in Brussels. Over a two year-period, 9575 cord blood samples were systematically screened. The study disclosed following results : 40% of newborns were from regions at risk for haemoglobinopathies and abnormal haemoglobins were present in 2.5% of the neonates tested. This frequency is similar to those reported elsewhere in North Europe. The most frequent abnormal haemoglobins were the Hb S, Bart's, C, D and E. Three cases of severe forms of sickle cell anaemia were identified. The frequency of abnormal haemoglobins and Hb S traits combined to the high rate of mixed marriages (16%) justifies the need for a universal screening for haemoglobinopathies in Brussels.

Belgium↗

PubMed1983

[Systematic neonatal screening for mucoviscidosis using an immunoreactive trypsin blood assay. Evaluation of 80,000 tests].

The development of a simple and reliable technique of trypsin radioimmunoassay in blood eluates allowed the neonatal screening for cystic fibrosis in a province of France. The study of the distribution of blood immunoreactive trypsin levels in 79,880 five day-old neonates led to choose a cut-off value of 900 micrograms/l; this choice gives a false positive rate of 3 in 1,000. The evolution of trypsin levels according to age during the first weeks of life leads to select a "two-phase" screening strategy: only neonates whose high neonatal trypsin levels persist after the second week of life (4 in 10,000) will undergo sweat test. Twenty-three cases of cystic fibrosis were diagnosed in this study, which gives an incidence of 1 in 3,470.

Cystic Fibrosis↗

PubMed2003

Hearing assessment in infants and children: recommendations beyond neonatal screening.

Congenital or acquired hearing loss in infants and children has been linked with lifelong deficits in speech and language acquisition, poor academic performance, personal-social maladjustments, and emotional difficulties. Identification of hearing loss through neonatal hearing screening as well as objective hearing screening of all infants and children can prevent or reduce many of these adverse consequences. This report outlines the risk indicators for hearing loss, provides guidance for when and how to assess hearing loss, and addresses hearing referral resources for children of all ages.

Bronchoscopy↗

PubMed1986

Management and outcome of children with congenital hypothyroidism detected on neonatal screening in South Australia.

Thirty-eight congenitally hypothyroid children who were detected in a neonatal screening programme have been treated for a mean period of 3.8 years (range, 0.5-8.5 years) by the maintenance of the free thyroxine index in the upper normal range as the main determinant of the dose of thyroxine. Only excessive elevation of, or serial rises in, thyroid stimulating hormone (TSH) level influenced the dose of thyroxine. This treatment strategy, which aims to avoid the potentially adverse effects of thyroxine overdosage, has often resulted in delayed return of TSH levels to normal, especially in athyrotic children (mean TSH +/- SD at one year of age in athyrotic children, 72 +/- 90 mU/L; in children with ectopic thyroid glands, 24 +/- 16 mU/L; normal range, 0-7 mU/L). The mean thyroxine dose of about 100 micrograms/m2 did not change significantly with age, and is lower than the doses that are sometimes quoted in the literature; athyrotic children require significantly more thyroxine (P less than 0.05) than those with ectopic thyroid glands. Symptoms and signs of congenital hypothyroidism, although subtle, were significantly more common (P less than 0.05 for symptoms and P less than 0.001 for signs) in athyrotic children compared with those with ectopic glands. No physical or developmental abnormality related to congenital hypothyroidism has been demonstrated on follow-up; mean height and weight percentiles approximate the 50th percentile at ages one to six years and mean developmental scores +/- SD at about two years of age by the Griffiths Mental Development Scale and at 4.5-6.5 years by the Wechsler Preschool and Primary Scale are 102.4 +/- 10.4 and 111.2 +/- 12.2, respectively. Long-term follow-up studies are necessary to exclude more subtle developmental and neurological abnormalities.

Age Determination by Skeleton↗

PubMed1991

Early bacteriologic, immunologic, and clinical courses of young infants with cystic fibrosis identified by neonatal screening.

To understand better the events associated with the initiation of lung disease in young children with cystic fibrosis (CF), we prospectively performed a longitudinal study examining the early bacteriologic, immunologic, and clinical courses of 42 children with CF diagnosed after identification by neonatal screening. Serial evaluations included history and physical examination, chest radiographs, throat cultures for bacteria, and determinations of serum immunoglobulin levels and circulating immune complexes. At a mean follow-up age of 27 months, 19% of the children had serial throat cultures positive for Pseudomonas aeruginosa; the first positive culture was found at a mean age of 21 months. In three infants the initial P. aeruginosa isolates were mucoid. As determined by typing with a DNA probe, serial P. aeruginosa isolates from each patient were identical over time but were genetically distinct from isolates recovered from other patients. Of 11 infants with P. aeruginosa, nine (82%) had previous isolates of Staphylococcus aureus or Haemophilus influenzae; all had received prior antibiotic therapy. In comparison with other infants with CF, children with P. aeruginosa grown on serial throat cultures more frequently had daily cough (p less than 0.01), lower chest radiograph scores (p less than 0.05), and elevated levels of circulating immune complexes (p less than 0.01). None of the study infants had persistent hypogammaglobulinemia or hypergammaglobulinemia. We conclude that (1) S. aureus and H. influenzae remain the isolates most frequently recovered from infants with CF; (2) initial recovery of P. aeruginosa by throat culture is often preceded by the onset of chronic respiratory signs; (3) elevations of circulating immune complexes can occur early, often after the initial recovery of P. aeruginosa; and (4) early P. aeruginosa isolates are genetically distinct, demonstrating the lack of cross-colonization in this newborn population.

Antigen-Antibody Complex↗

PubMed1993

[Deafness in children: new modalities of neonatal screening].

The identification of severe-profound hearing loss must be early. Hearing screening programs among neonates use behavioral test (as in France the Veit and Bizaguet Test) or objective methods as ABR (auditory brain stem responses, evoked acoustic emissions). The objective methods give a presumptive diagnosis. A certainty diagnosis is only possible at 5-6 months by a specific audiometric technique in order to adapt better the amplification and the early education of deaf children. The subjective procedures cannot discover mild/moderate hearing loss. In addition there are false-positive and false-negative error rates. Thus we direct our work towards a greater sensitization among parents of general, neonates population, among doctors. Moreover all the infants at high risk have a behavioral audiometry at 5-6 months.

Age Factors↗

PubMed1996

Anemia in infants with congenital hypothyroidism diagnosed by neonatal screening.

Although anemia is a common finding in adult hypothyroid patients, there are no studies on anemia in hypothyroid infants. The aim of this study, therefore, was to review the hematologic status during the first year of life in 50 infants with congenital hypothyroidism detected through the regional neonatal screening program. The mean age at diagnosis was 23.7 +/- 6.5 days and treatment was initially begun with a mean L-thyroxine dose of 6.8 +/- 1.3 micrograms/kg/day. Clinical and haematological assessments were performed at diagnosis, 3, 6 and 12 months of age. The patients were divided in 2 groups based on whether T4 serum concentration at diagnosis was < 3 micrograms/dl (Group A) or > or = 3 micrograms/dl (Group B). Data for hemoglobin (Hb), hematocrit (Ht), red cells count (RCC), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), serum iron and ferritin were expressed as Standard Deviation Score (SDS). Although at diagnosis the mean value of Hb-SDS, Ht-SDS and RCC-SDS were in the low-normal range in both groups, at 3 months of age the values in Group A (Hb -1.9 +/- 0.79; Ht -2.34 +/- 1.02; RCC -1.56 +/- 1.25) were significantly lower than in Group B (Hb -1.14 +/- 0.78, p < 0.005; Ht -1.59 +/- 0.94, p < 0.05; RCC -0.55 +/- 1.32, p < 0.02). A rise of the Hb, Ht and RCC values was observed in both groups from 6 to 12 months. The mean values of MCV-SDS and MCH-SDS were in the normal range at diagnosis in both groups, decrease progressively at 3 and 6 months and returned to normal at 12 months of age; no differences were found between the 2 groups at any time. Mean Hb levels at 3 months of age were correlated with mean serum T4 at diagnosis (r = 0.30, p < 0.05). The present results indicate that anemia is a frequent finding in infants with congenital hypothyroidism and is depended on the degree of neonatal hypothyroidism and imply that hypothyroidism during development may produce persisting changes even after thyroid replacement has begun.

Aging↗

PubMed1999

Ethical, legal and health economic aspects of neonatal screening.

The spectrum of the title of this work is wide, but necessarily so, because of the increasing interaction of the three key components--ethics, law and health economy--in all parts of health systems. Although by nature the key components are different, they are still interdependent. Ethics, as the overall term for values, norms and attitudes of democratic societies, is the basic reference for our controlling of our personal lives, our lives with each other, and our lives with society institutions in the broadest sense. Ethics is the cambrium for control with our general behaviour, but is at the same time the cambrium for the control mechanisms of societies, as expressed in national laws. Health economics is often considered a necessary but value-free part of the spectrum, in accordance with money's very material nature. And yet economics and other resource elements (as organs for transplantation or numbers of special experts) have a strong link to ethics via so-called distributional ethics ("we are able to do more than we can afford"). The main theme for this introduction is ethics. In neonatal screening it relates to two different aspects: one linked to the neonate as an individual who can benefit from early diagnosis of treatable diseases, the other to the neonate as a member of a family line, enabling geneticists later to use the results for genetic mapping of a whole family or of large societal groups.

Denmark↗

PubMed1987

Neonatal screening and mass-spectrometric analysis of hemoglobin variants in Japan.

Using dried blood on filter paper, neonatal screening and mass-spectrometric analysis of hemoglobin variants were carried out in Osaka Prefecture, Japan. The following results emerged. (1) Of 140,597 newborns screened, 28 alpha (1/5,000) and 91 gamma (1/1,500) chain variants were detected. (2) Of 65 gamma chain variants examined, more than half (in 40 samples) were Hb F Yamaguchi (A gamma T 80 Asp----Asn). This fact explains the high incidence of gamma chain variants in the present study. (3) Two new gamma chain variants, Hb F Fuchu (G gamma 21 Glu----Gln) and Hb F Minoo (G gamma 72 Gly----Arg), were detected.

Chemical Phenomena↗

PubMed2005

The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: evidence from the United States Cystic Fibrosis Foundation registry data.

OBJECTIVE: To determine the impact of age and condition at the time of diagnosis on survival of patients with cystic fibrosis (CF). STUDY DESIGN: By mode of diagnosis, 27,692 patients documented in the 1986-2000 CF Foundation Registry were segregated into meconium ileus (MI), prenatal or neonatal screening (SCREEN), positive family history only (FH), and symptoms other than MI (SYMPTOM). Patients in the MI, SCREEN, and SYMPTOM groups were further categorized by initial presenting symptoms into combined respiratory symptoms and malnutrition (RESP + NUTR), RESP, NUTR, other less common symptoms (OTHER), and OTHER + RESP/NUTR. RESULTS: Fifty-five percent of patients in the SCREEN group and 59% of patients in the MI group were diagnosed within age 1 month, as contrasted with 5% in patients in the SYMPTOM group (P < .001). Compared with patients in the SCREEN group, patients in the MI and SYMPTOM groups had significantly greater risks of shortened survival. Patients in the SYMPTOM group presenting with RESP + NUTR had significantly greater risk of shortened survival than the SCREEN group (P < .05). Survival of patients in the SYMPTOM group diagnosed "early," that is, within 1 month of age, did not differ from patients in the SCREEN group but was significantly better than patients in the SYMPTOM group diagnosed beyond age 1 month to 10 years. CONCLUSIONS: Early diagnosis through screening is associated with better survival compared with delayed diagnosis through non-MI symptoms beyond the age of 1 month.

Adolescent↗

PubMed2002

High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland.

Newborn screening for congenital adrenal hyperplasia (CAH) is justified by the sometimes difficult clinical diagnosis and the risks associated with missed diagnosis, particularly the life-threatening salt-wasting crisis. In Switzerland, nationwide screening for CAH by measuring 17-hydroxyprogesterone levels in dried blood spots was introduced in 1992. At the Zurich University Children's Hospital, 50% of the population of Switzerland is screened. The aim of the study was to evaluate the efficiency of the Zurich screening program. Between January 1, 1993, and May 31, 2001, 333,221 newborns were screened for CAH. Thirty-one newborns had CAH (incidence, 1 in 10,749); 30 were detected through screening (sensitivity, 97%). A recall for suspected CAH was performed in only 60 cases, corresponding to a very low recall rate (0.0018%). In 30 recalls CAH was confirmed (positive predictive value, 50%; specificity, 99.99%). Fifteen of 31 patients profited from screening, as CAH had not been recognized clinically. The timely availability of screening results made therapy possible within the first week of life in most cases and helped in preventing salt-wasting crisis in all patients. With a sensitivity of 97%, a specificity of 99.99%, and a positive predictive value of 50%, the Zurich neonatal screening program for CAH can be considered highly reliable.

17-alpha-Hydroxyprogesterone↗