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Results for “Neonatal Screening”

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PubMed1998

Rapid risk household screening by neonatal arm circumference: results from a cohort study in rural Burkina Faso.

Neonatal arm circumference (NAC) and other attributes of the newborn and its household were analysed as potential predictors of child death in a cohort of 1367 newborn children representing the majority of births in a rural area of Burkina Faso from 1992 to 1994. During 3872 person years observed 264 children died, resulting in an average mortality rate of 6.8% per year. 90 mm was chosen as the best cut-off to differentiate low NAC associated with high mortality from normal NAC. The hazard ratio of children with low NAC (15.7%) compared to others was 1.7 (P < 0.001) in Cox regression. Kaplan-Meier curves of cumulative survival showed that this higher risk lasted throughout the first two years of life. Multivariate Cox regression comparing NAC with other variables known or suspected to influence child survival yielded a model including mother's death, twin birth, affiliation to a particular health centre, home delivery and birth during the rainy or harvest season as other significant risk factors beside NAC. Protective factors were mother's participation in antenatal care despite considerable distance to the health centre, medium household size (5-7 members) and household cash crop production. We propose a simple risk score for rapid household screening in rural Burkina Faso and comparable settings elsewhere for identifying households at risk of experiencing child death. As much of the other variables' contribution to the explanation of survival pattern is absorbed by NAC in more parsimonious models, even simpler screening strategies based on NAC make sense. In the study area risk households will be offered periodical home visits by the local nurse promoting immunization, treatment of illness and strengthening the mothers' competence to recognize and manage frequent health problems of their children as part of a 'Shared Care' concept.

Anthropometry↗

PubMed2002

Respiratory infections with Pseudomonas aeruginosa in children with cystic fibrosis: early detection by serology and assessment of risk factors.

CONTEXT: Patients with cystic fibrosis (CF) are susceptible to lower respiratory tract infections with Pseudomonas aeruginosa and typically acquire this organism in early childhood. Once P aeruginosa infection is established, eradication may be impossible, and progressive lung disease often aggravates morbidity and mortality risks. The ability to diagnose CF by genetic testing at birth makes it possible to determine the temporal sequence of events that result in P aeruginosa-associated pulmonary infections. OBJECTIVE: To evaluate the longitudinal relationship between the production of an antibody response against P aeruginosa and clinical factors associated with P aeruginosa pulmonary infections in patients with CF diagnosed in early life. DESIGN, SETTING, AND PATIENTS: Serum samples and oropharyngeal cultures (protocol cultures) were obtained at 6-month intervals from April 15, 1985, to April 15, 2000 (or for up to 180 months depending on their enrollment date) from 68 patients at 2 centers in Madison and Milwaukee, Wis, diagnosed through the Wisconsin CF Neonatal Screening Project, a longitudinal cohort study. Additional cultures were obtained at examining physicians' discretion (all cultures). MAIN OUTCOME MEASURES: Time to serum IgG, IgA, and IgM antibody titer of at least 1:256 against P aeruginosa, assessed by enzyme-linked immunosorbent assay using cell lysate, exotoxin A, and elastase as antigens; time to organism isolation from respiratory samples; time to Wisconsin Cystic Fibrosis Radiograph (WCXR) score of 5 or more. RESULTS: The median time to an antibody titer of at least 1:256 was 17.8, 24.2, and 70.9 months for cell lysate, exotoxin A, and elastase, respectively. The rise of anti-cell lysate and anti-exotoxin A titers to 1:256 or more occurred a mean of 11.9 (P<.001) and 5.6 (P =.04) months, respectively, before the isolation of P aeruginosa for all cultures and 18.2 (P<.001) and 11.9 (P =.006) months, respectively, before protocol cultures. There was no significant difference between the rise of anti-cell lysate and anti-exotoxin A titer and a WCXR score of 5 or more (P =.24 and.32, respectively). Treatment with long-term, non-Pseudomonas oral antibiotics and integration of CF infants with older, chronically infected patients were associated with a significantly increased risk of P aeruginosa pulmonary infection. CONCLUSIONS: In CF patients diagnosed through neonatal screening, P aeruginosa pulmonary infections occurred 6 to 12 months before the organism was isolated from respiratory secretions. The longitudinal monitoring of P aeruginosa antibody titers, in concert with WCXR score, should facilitate diagnosis and treatment of P aeruginosa pulmonary infections in young children with CF.

ADP Ribose Transferases↗

PubMed1991

Accuracy and reliability of two methods of screening for hypoglycemia in neonates.

Two hundred and six neonates were screened for hypoglycemia using two glucose test strips and their results compared with a simultaneous blood sugar obtained from the Beckman's glucose analyser. Both test strips, Reflotest hypoglycemia and the Reflolux (BM test glycemia 20-800) gave rapid estimates of blood sugar readings. In this study, these two strips were assessed in their accuracy and reliability to detect neonatal hypoglycaemia (blood sugar levels less than 2.2 mmol/L). The sensitivity and specificity of the two test strips are 0.82 and 0.90 for Reflotest, and 0.88 and 0.81 for Reflolux respectively. Hence we conclude that both Reflotest and Reflolux are sensitive in detecting blood sugar levels at or below 2.2 mmol/L (40 mg/dl) although Reflolux is less specific. A laboratory result is mandatory before the diagnosis and prognosis of hypoglycemia is made.

Birth Weight↗

PubMed1983

A study of the high-risk registry for sensorineural hearing impairment.

In the medical evaluation, rehabilitation, and education of the hearing impaired, the first line of defense is the high-risk factor screening for sensorineural damage of all neonates. The most efficacious means of neonatal screening for those factors affecting sensorineural hearing damage is the employment of a high-risk registry. Based on a retrospective study of 109 children with sensorineural loss, high-risk factors and how improved use of the high-risk registry permits earlier detection (and statistically more successful rehabilitation) for such auditory-impaired children are discussed. The importance of pediatric screening of all neonates for hearing loss, in addition to use of the high-risk registry, is evidenced by the fact that only 46% of the children retrospectively identified in our study would have routinely appeared among the high-risk infants were the registry used alone.

Adolescent↗

PubMed2004

Diagnostic effectiveness of simultaneous thyroxine and thyroid-stimulating hormone screening measurements. Thirteen years' experience in the Northeast Italian Screening Programme.

OBJECTIVES: To evaluate the effectiveness of thyroid-stimulating hormone (TSH) and thyroxine (T4) measurements at neonatal screening for congenital hypothyroidism, we compared our false-negative results with those we would have obtained if we had used TSH screening alone. SUBJECTS AND METHODS: Between January 1989 and December 2001 745,258 newborns were screened (98.3% of total born) for congenital hypothyroidism in northeast Italy. T4 and TSH were measured simultaneously on blood spots collected after birth. Between 1989 and 1998, semi-quantitative total T4 (tT4) and TSH concentrations were measured by radiolabelled immunological assay and, from 1999 to 2001, using time-resolved fluorometer Delfia instruments (EG&G Wallac Oy, Finland) and fluoroimmunometric assay (Delfia neonatal hTSH and T4 kits). RESULTS: Ten neonates were missed by our screening programme (normal tT4 and TSH) and classified as false negatives; these infants were diagnosed later in life with central hypothyroidism. If we had measured TSH alone in our screening programme, we would have missed an additional 21 patients with low tT4 and normal TSH; of these, four were affected by central hypothyroidism and 17 were diagnosed within the second month of life as affected by primary hypothyroidism with delayed TSH rise. CONCLUSIONS: Simultaneous T4 and TSH measurements at neonatal screening can miss patients affected by central hypothyroidism. However, this screening procedure allows identification of cases of central hypothyroidism with low T4 values and those neonates affected by primary hypothyroidism with delayed TSH rise who we would have missed by using the TSH measure alone.

Birth Weight↗

PubMed2005

Quality of life of children with cystic fibrosis.

OBJECTIVE: To review health-related quality of life (QOL) and associated issues and to describe a study investigating "Child Health Questionnaire" (CHQ) scores in relationship to newborn screening (NBS) for cystic fibrosis (CF) and markers of disease severity. METHODS: A total of 36 patients from 10-15.5 years old who were enrolled in the screened or control group of the Wisconsin CF Neonatal Screening Project completed the CHQ. Scale scores comprised the dependent variables. Independent variables included study group and measures of disease severity. Analyses included Fisher's exact, 2-sample Wilcoxon, and t tests. RESULTS: QOL did not differ significantly between the screened and control groups for any of the scales. None of the comparisons of CHQ scale scores across measures of disease severity were significant in this small sample, but the CHQ and power were limiting. CONCLUSIONS: Our results did not demonstrate a benefit of CF NBS on QOL; however, the CHQ may not be adequately sensitive to QOL in children with CF with disease severity comparable to our sample. The Cystic Fibrosis Questionnaire, a recently validated CF-specific QOL measure for pediatric samples, is likely to provide a more informative evaluation of the effects of CF NBS on patients' QOL.

Activities of Daily Living↗

PubMed2006

Early assessment of hypothalamic-pituitary-gonadal function in patients with congenital hypothyroidism of central origin.

CONTEXT: Early recognition of gonadotropic dysfunction could enable well-timed growth and maturation and prevent damage to gonads and external genitalia. The adaptation of the Dutch neonatal screening program for congenital hypothyroidism in the mid 1990s resulted in enhanced detection of congenital hypothyroidism of central origin (CH-C), with high likelihood of multiple pituitary hormone deficiency, including gonadotropin (Gn) deficiency. OBJECTIVE: We analyzed GnRH test results and baseline Gn and sex hormone measurements in 15 infants with CH-C to examine these diagnostic tools for assessment of the integrity of the hypothalamus-pituitary-gonad axis in young infants. DESIGN: In a nationwide prospective study (1994-1996), patients were referred to our department if neonatal CH screening results were indicative of CH-C. When CH-C was confirmed, GnRH tests and baseline Gn and sex hormone measurements took place at the age of 3 months, when euthyroid status had been accomplished by T4 supplementation, and if necessary, cortisol supplementation was installed. SETTING: The study took place at the Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam (referral center). PATIENTS: The study included 15 neonates (five girls and 10 boys) with CH-C, detected by neonatal screening, in whom investigation of the hypothalamus-pituitary-gonad axis could be performed at 3 months of age. MAIN OUTCOME MEASURES: Results of GnRH tests and baseline Gn and sex hormone measurements were assessed. RESULTS: GnRH tests at 3 months of age showed a pattern indicative of endogenous GnRH stimulation in nine infants and a blunted response in six. Baseline Gn and sex hormone concentrations except estradiol (P = 0.053) were significantly different between responders and nonresponders. CONCLUSIONS: The GnRH test and baseline measurements of Gn and sex hormone serum concentrations at 3 months of age are promising options in the assessment of hypothalamic-pituitary-gonadal function in infants with CH-C of both sexes.

Congenital Hypothyroidism↗

PubMed2000

Venepuncture versus heel lance for blood sampling in term neonates.

BACKGROUND: Heel lance has been the conventional method of blood sampling in neonates for screening tests. Neonates undergoing this procedure experience pain. Despite various studies evaluating the role of pharmacological and non-pharmacological interventions to date, there are no effective and practical methods to alleviate pain from heel lance. OBJECTIVES: To determine whether venepuncture or heel lance is less painful and more effective for blood sampling in term neonates. SEARCH STRATEGY: Systematic search in accordance with Cochrane Neonatal Collaborative Review Group. All randomized controlled trials which compared pain response to venepuncture vs. heel lance were searched using MEDLINE, Embase, CINAHL, the Cochrane Library, reference lists of identified trials and personal files. No language restrictions were applied. SELECTION CRITERIA: Randomized controlled trials which compared pain response to venepuncture vs. heel lance were selected for this review. DATA COLLECTION AND ANALYSIS: Data regarding the primary outcome of pain response to venepuncture vs. heel lance as assessed by validated pain measures were abstracted. Secondary outcomes including the need of repeat blood sampling, bruising/hematoma at local site, and parental perception of their own anxiety and infant's pain were also abstracted. All data were analysed using Revman 3.1. When possible, meta-analysis was done using relative risk (RR) and event rate difference (ERD), along with their 95% confidence intervals (CI). If ERD was significant, number needed to treat (NNT) was calculated. MAIN RESULTS: Two trials were eligible for inclusion in the review. One study using Neonatal Infant Pain Scale (NIPS) and one study using Neonatal Facial Action Coding System (NFCS) and cry duration showed statistically significantly lower pain scores for venepuncture as compared to heel lance. In one study, maternal anxiety was noted to be higher in the venepuncture group as compared to heel lance group prior to the procedure; however, after observing the procedure, mothers rated their infant's pain to be lower in the venepuncture group. A meta-analysis was performed on the need for at least one additional skin puncture to obtain the required amount of blood using venepuncture as compared to heel lance. The relative risk for requiring more than one skin puncture for venepuncture versus heel lance was 0.19 [95% confidence interval (CI) 0.10, 0.38]. The risk difference was -53% (95% CI -66%, -40%). The number needed to treat (NNT) to avoid one repeat skin puncture was 1.9 (95% CI 1.5, 2.5). REVIEWER'S CONCLUSIONS: Venepuncture, when performed by a trained phlebotomist, appears to be the method of choice for blood sampling in term neonates. For each two venepunctures instead of heel lance, the need for one additional skin puncture can be avoided. In view of the promising results derived from small studies with some methodological limitations, further well designed randomized controlled trials need to be conducted. The interventions should be compared in settings where several individuals perform the venepuncture and/or the heel lance.

Blood Specimen Collection↗

PubMed1984