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At least 469 records · Page 26Linked to original sources
PubMed1992

Neonatal screening for alpha-thalassemia in southern Taiwan.

Screening peripheral or cord blood from newborn infants has been used for early detection of alpha-thalassemia conditions. The level of hemoglobin Bart's (Hb Bart's) in the blood correlates with the degree of alpha-gene deletion. Hence, the degree of gene deletion in an alpha-thalassemia carrier state can be estimated. Two thousand cord blood samples collected from the Tainan area were screened with cellulose acetate membrane electrophoresis for Hb Bart's. Ninety-nine of the 2,000 samples (4.95%) were positive for Hb Bart's. Concentrations of Hb Bart's varied from 3.2% to 30.7%. Of the 99 cases with Hb Bart's, 22 had Hb Bart's levels of 3.0% to 9.9%; 54 had Hb Bart's levels of 10.0% to 19.9%; and 23 had Hb Bart's levels of 20% to 40%. Routine cord blood screening by hemoglobin electrophoresis is recommended.

Fetal Blood↗
PubMed1992

[Phenylketonuria yesterday and today. Evaluation of the work of systematic neonatal screening].

Phenylketonuria is due in the very great majority of cases to a deficiency in phenylalanine hydroxylase, an enzyme whose cofactor is biopterin. Prenatal screening consists in measuring the concentration of phenylalanine in a sample of dried blood taken after birth (levels are already raised by day 3). Screening, organized by the Association française pour le dépistage et la prévention des handicaps de l'enfant, is very thorough (cover greater than 99%). Treatment involves observance of dietary restriction for at least five years. Results are good. Questions concerning the useful duration of dietary treatment, the level of phenylalanine that should not be exceeded, and the future of girls with PKU remain controversial. When adult, such girls may give birth to retarded children if they do not resume dietary restriction before becoming pregnant. Now that problems of screening, its organization, and the management of diet have been solved, these questions are the new challenge that faces us.

Female↗
PubMed2005

Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight.

OBJECTIVE: In newborn screening programs for congenital adrenal hyperplasia, 17-alpha-hydroxyprogesterone (17OHP) cutoff levels are based on birth weight (BW) or on gestational age (GA). We investigated which approach would result in the greatest specificity and sensitivity. STUDY DESIGN: For the determination of 17OHP, a neonatal 17OHP assay was used in filter paper blood of 9492 newborns. The relationships between 17OHP and BW and between 17OHP and GA were studied by regression analysis. Reference curves with a specificity of 99.95% were constructed with the method that summarizes the distribution by three smoothed curves representing the skewness (L curve), the median (M curve), and the coefficient of variation (S curve). Median cutoff levels for BW and for GA according to the 99.95% reference curves were calculated. RESULTS: Regression analysis showed that GA is a better predictor of 17OHP than BW (R(2) was 50.6 vs. 35.8%, respectively). At a specificity of 99.95%, the calculated median 17OHP cutoff level was lower for GA [12.6 microg/liter (38 nmol/liter)] than for BW [17.6 microg/liter (54 nmol/liter)], thus leading to a greater sensitivity. CONCLUSION: This study demonstrates that GA is a better predictor of 17OHP in newborns and will result in greater specificity than BW despite the fact that the determination of GA might be less reliable than BW.

17-alpha-Hydroxyprogesterone↗
PubMed1991

[Congenital hypothyroidism: organization and coordination of neonatal screening in Italy].

Congenital hypothyroidism (IC) is the most frequent endocrine disease of the infancy and it is caused by primary deficiency of thyroid hormones. The damages derived by protracted hormone deficiency are diffused to all organs and systems and particularly severe for the development of central nervous system. Mental retardation can be prevented by early diagnosis and therapy. Early diagnosis is assured by neonatal thyroid screening performed on all newborns in the first days of life. The progress report on the screening situation in Italy as well as the national coordination realized in this field are presented.

Congenital Hypothyroidism↗
PubMed1994

[Models of the organization of neonatal screening].

The authors evaluate the different organizational strategies of a congenital hypothyroidism screening program. Positive and negative aspects of laboratory screening tests (TSH only, T4-supplemental TSH, TSH and T4), organization strategies (centralization or decentralization), recall and first follow-up criteria are examined. The authors consider that the necessity for an early diagnostic confirmation can be associated with a precise etiologic diagnosis and an evaluation of the prenatal severity of congenital hypothyroidism factors. Some European and North-American experiences are compared with the activity of a regional Italian screening center.

Congenital Hypothyroidism↗
PubMed1993

[Evaluation of a decade of neonatal screening for congenital hypothyroidism in The Netherlands].

OBJECTIVE: Evaluation of the Dutch screening programme for congenital hypothyroidism (CH). DESIGN: Descriptive. SETTING: Nationwide. METHODS: Data on the screening were obtained from the administration body for vaccination and screening results, laboratories and paediatricians to whom infants with positive screening values were referred, during the period from January 1st, 1981 to December 31st, 1990. RESULTS: Of all live births in the Netherlands, 99.5% (1,797,719) were screened for CH. During the study period, 10,165 children (0.57% of all screened infants) were referred. Of the referred children, 529 had primary CH and 53 had congenital thyrotropin deficiency syndrome (CTDS). The prevalences of primary CH and CTDS are 1:3,400 and 1:25,000, respectively. The sensitivity of the programme with respect to detection of primary CH and CTDS was 99% and 74%, respectively. For all forms of CH combined, the specificity of the programme was 99% and the positive predictive value 6%. The positive predictive value was especially low in the group of infants with low T4 and normal thyrotropin values. One of the goals of the programme is to realise the start of treatment in all patients before they reach the age of three weeks. Before the screening programme came into being, the cumulative proportion of patients treated on the 21st day was 6%. After the beginning of the programme, the proportion increased to 54%. In screened patients with a severe form of CH it is currently 72%. CONCLUSION: The screening programme has made a substantial and important contribution to early and effective identification of patients with CH. A number of measures to decrease the number of false-positive results have been taken and others are at present being investigated. Although patients are now treated much earlier than before the programme started, substantial improvement in this respect is still possible. This can only be achieved by a collective effort of performers of the heel puncture, laboratories, administration body for vaccination and screening results, general practitioners and pediatricians.

Congenital Hypothyroidism↗
PubMed1994

Neonatal screening for glucose-6-phosphate dehydrogenase deficiency: sex distribution.

Eight hundred and six newborn infants at high risk for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were screened; 30.2% of the boys and 10.4% of the girls had severe G-6-PD deficiency. Surprisingly, 14% of the enzyme deficient girls had a father from a low risk ethnic group. Girls of high risk mothers should be screened for G-6-PD deficiency regardless of paternal origin.

Fathers↗
PubMed2002

Pilot study for the neonatal screening of fragile X syndrome.

Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5'-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree.

Fragile X Messenger Ribonucleoprotein 1↗
PubMed2002

Distortion evoked otoacoustic emission using GSI 70 analyzer for neonatal screening.

OBJECTIVE: Following the recommendation of the United State National Institute of Health Consensus Conference in 1993, otoacoustic emissions (OAE) are now used internationally for hearing screening. The GSI 70 OAE screener provides the means for carrying out OAE recordings within a short period of time and includes an automatic evaluation of results. The aim of this study was to determine the reliability of recordings in comparison with available standards in brainstem audiometry. METHOD: OAE recorded in 29 hearing-impaired suspected infants and young children (aged 1 months-7 years old) in order to compare the result of the GSI 70 screener with the result of ABR. This study was conducted in the outpatient clinic of the Tokyo University Hospital. RESULT: Our study showed that the GSI 70 screener has higher false negative rate compared with ABR results (P<0.01). Consequently, an OAE measuring method, is also provides high sensitivity and easy to use. However, there was no trend toward increased refer rates with increased age. CONCLUSION: Our findings show that the GSI 70 screener can meet the demands of systematic hearing screening in infants and young children, although there is a tendency to miss cochlear impaired cases.

Audiometry, Evoked Response↗
PubMed1999

[Acoustic distortion products otoacoustic emissions (DPOAE) in neonatal screening].

The purpose of the work was to determine the feasibility of direct nursery DPOAE testing in a universal hearing screening, evaluate the results and calculate the reliability of this test vs. Auditory Brainstem Responses (ABR). To this purpose DPOAE (sweep and I/O test) were performed on 500 children born between January and August 1996 at the Civil Hospital of Mestre, Italy. All the children were examined in the nursery, no matter what the risk factors or specific motivations. Besides determining whether the examination could be performed, its specificity and sensitivity, the time required and any variation depending on the day of testing were also evaluated. In a high percentage of cases (11.2%) it proved impossible to perform the test. In addition, when compared to ABR, the percentage of false positives was rather high (16.2%) and specificity was 84%. As conceived, the test requires 6'09" per ear. Comparison of the differences in results according to day of execution did not appear significant although there was a lower percentage of false positive after the third day of life. DPOAE can be measured in the nursery. The high number of false positives and the frequent need to repeat the measurements, however, increase the amount of time required for this test, thus voiding any time savings over an ABR screening: a test which is rather lengthy by provides a high degree of specificity.

Acoustic Stimulation↗