Neonatal examination and screening trial (NEST): a randomised, controlled, switchback trial of alternative policies for low risk infants. (1/1018)

OBJECTIVE: To evaluate the effectiveness of one rather than two hospital neonatal examinations in detection of abnormalities. DESIGN: Randomised controlled switchback trial. SETTING: Postnatal wards in a teaching hospital in north east Scotland. PARTICIPANTS: All infants delivered at the hospital between March 1993 and February 1995. INTERVENTION: A policy of one neonatal screening examination compared with a policy of two. MAIN OUTCOME MEASURES: Congenital conditions diagnosed in hospital; results of community health assessments at 8 weeks and 8 months; outpatient referrals; inpatient admissions; use of general practioner services; focused analysis of outcomes for suspected hip and heart abnormalities. RESULTS: 4835 babies were allocated to receive one screening examination (one screen policy) and 4877 to receive two (two screen policy). More congenital conditions were suspected at discharge among babies examined twice (9.9 v 8.3 diagnoses per 100 babies; 95% confidence interval for difference 0.3 to 2.7). There was no overall significant difference between the groups in use of community, outpatient, or inpatient resources or in health care received. Although more babies who were examined twice attended orthopaedic outpatient clinics (340 (7%) v 289 (6%)), particularly for suspected congenital dislocation of the hip (176 (3.6/100 babies) v 137 (2.8/100 babies); difference -0.8; -1.5 to 0.1), there was no significant difference in the number of babies who required active management (12 (0.2%) v 15 (0.3%)). CONCLUSIONS: Despite more suspected abnormalities, there was no evidence of net health gain from a policy of two hospital neonatal examinations. Adoption of a single examination policy would save resources both during the postnatal hospital stay and through fewer outpatient consultations.  (+info)

Voluntary newborn HIV-1 antibody testing: a successful model program for the identification of HIV-1-seropositive infants. (2/1018)

Harlem Hospital in New York City has one of the highest HIV-1 newborn seroprevalence rates in the United States. We report the results of a program introduced in 1993 and designed to identify HIV-1-seropositive (HIV+) newborns at birth. All new mothers, independent of risk, received HIV counseling that emphasized the medical imperative to know the infant's HIV status as well as their own. Consent was obtained to test the infant; discarded cord blood samples were tested by enzyme-linked immunosorbent assay (ELISA), and when positive, Western Blot confirmation. We compared the number of HIV+ infants identified through voluntary testing with the number reported by the anonymous New York State Newborn HIV Seroprevalence Study. In 1993, 97.8% (91 of 93) of the number of HIV+ infants identified by the anonymous testing were identified through voluntary maternal and newborn testing programs. Eighty-five HIV+ infants were identified before nursery discharge: 50% (42/85) through newborn testing; 14% (12/85) through prenatal testing; 13% (11/85) presented to care knowing their status; 23% (20/85) were known because of a previous HIV+ child. Six additional HIV+ children were diagnosed after hospital discharge (mean age, 5.5 months; range 1.5 through 17 months); four presented with symptomatic disease. The optimal time for identification of the HIV+ pregnant woman is before or during pregnancy, but when this does not occur, voluntary newborn testing can identify many HIV+ infants who would otherwise be discharged undiagnosed from the nursery.  (+info)

Costs, true costs, and whose costs in economic analyses in medicine? (3/1018)

Cost-effectiveness analyses of clinical practices are becoming more common in the development of health policy. However, such analyses can be based on misconceptions and flawed assumptions, leading to flawed policies. We argue that such is the case with the recent recommendations for routine measurement of umbilical cord gases at delivery, a policy based on the assumption that this clinical strategy will pay for itself by reduced malpractice awards. As we demonstrate, this argument reflects the physician's perspective, not that of society or of patients. It also ignores the fact that malpractice awards are largely transfer payments, not cost of healthcare.  (+info)

Costing model for neonatal screening and diagnosis of haemoglobinopathies. (4/1018)

AIM: To compare the costs and cost effectiveness of universal and targeted screening for the haemoglobinopathies; to compare the cost of two laboratory methods; and to estimate the cost effectiveness of programmes at different levels of prevalence and mix of haemoglobinopathy traits. METHODS: A retrospective review of laboratory and follow up records to establish workload and costs, and estimation of costs in a range of circumstances was made in a haematology department and sickle cell and thalassaemia centre, providing antenatal and neonatal screening programmes in Inner London. The costs for 47,948 babies, screened during 1994, of whom 25 had clinically significant haemoglobinopathies and 704 had haemoglobinopathy traits, were retrospectively assessed. RESULTS: The average cost per baby tested (isoelectric focusing and high power liquid chromatography) was 3.51 Pounds /3.83 Pounds respectively; the cost per case of sickle cell disease identified (IEF/HPLC) was 6738 Pounds /7355 Pounds; the cost per trait identified (IEF/HPLC) was 234 Pounds /255 Pounds; the cost per extra case of SCD and trait identified by universal programme varied. CONCLUSIONS: IEF and HPLC are very similar in terms of average cost per test. At 16 traits/1000 and 0.5 SCD/1000 there was no significant identification cost difference between universal and targeted programmes. Below this prevalence, a targeted programme is cheaper but likely to miss cases of SCD. If targeted programmes were 90-99% effective, universal programmes would cease to be good value except at very high prevalence. Greater use of prenatal diagnosis, resulting in termination, and therefore fewer affected births, reduces the cost effectiveness of universal screening. Screening services should aim to cover a screened population which will generate a workload over 25,000 births a year, and preferably over 40,000.  (+info)

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. (5/1018)

BACKGROUND: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inborn error of fatty acid metabolism. Undiagnosed, it has a mortality rate of 20-25%. Neonatal screening for the disorder is now possible but it is not known whether this would alter the prognosis. OBJECTIVE: To investigate the outcome of MCAD deficiency after the diagnosis has been established. METHOD: All patients with a proved diagnosis of MCAD deficiency attending one centre in a four year period were reviewed. RESULTS: Forty one patients were identified. Follow up was for a median of 6.7 years (range, 9 months to 14 years). Nearly half of the patients were admitted to hospital with symptoms characteristic of MCAD deficiency before the correct diagnosis was made. After diagnosis, two patients were admitted to hospital with severe encephalopathy but there were no additional deaths or appreciable morbidity. There was a high incidence (about one fifth) of previous sibling deaths among the cohort. CONCLUSIONS: Undiagnosed, MCAD deficiency results in considerable mortality and morbidity. However, current management improves outcome, supporting the view that the disorder should be included in newborn screening programmes.  (+info)

School attainments in children with congenital hypothyroidism detected by neonatal screening and treated early in life. (6/1018)

OBJECTIVE: Evaluation of school attainments in children with congenital hypothyroidism (CH) detected by neonatal screening and treated early in life. PATIENTS AND METHODS: Text comprehension, mathematics, reading, writing and verbal and spatial memory, as indices of school learning, were evaluated in nineteen 5- to 10-year-old children with CH attending nursery or elementary school. l-Thyroxine substitution (starting dose 8-10 microg/kg body weight per day) was initiated at a mean age of 30+/-10 days of life. The control group included 298 unaffected children matched with the CH children for age and school grade. Thirty per cent of controls were classmates of CH children. Intelligence quotients (IQ), language performances and motor development were evaluated in CH children at age 5 years, and were related to their school attainments. School performances of CH children were also compared with their neonatal serum thyroxine (T4) concentration, and with the social-cultural level of the family. RESULTS: Four out of 19 (21%) children with CH, 3 in the nursery and 1 in the elementary school, displayed a generalized learning disorder. Symbol copy, geometric copy, phrase repetition, dictation writing and spontaneous writing were particularly defective in nursery school CH children, while orthographic error recognition was defective in elementary school CH children. School learning disorders in CH children were significantly correlated with a borderline-low IQ, poor language performances and a low social-cultural level of the family, but not with motor skills or neonatal T4 concentration. CONCLUSION: School attainments of early treated CH children were within the normal range in most affected cases. However, about 20% of CH children, most of them attending nursery school, showed a generalized learning disorder. Low IQ scores and poor language performances at age 5 years were associated with defective learning, mainly in CH children living in a poor social-cultural environment. In this subset of CH children, prompt initiation of speech and psychomotor rehabilitation therapy is recommended in order to prevent subsequent school learning disorders.  (+info)

Pertechnetate scintigraphy in primary congenital hypothyroidism. (7/1018)

Primary congenital hypothyroidism (PCH) is currently detected effectively by heel-stick screening. When elevated thyrotropin (TSH) and/or decreased T4 are found in the blood of neonates, they are recalled, values are confirmed in venous blood and thyroxine replacement therapy (TRT) is immediately instituted, thus cretinism or severe retardation is prevented. However, in a significant percentage of neonates with abnormal blood levels of T4 or TSH, the disorder is transient. To help determine the exact cause of PCH and the possibility of transient PCH, pinhole thyroid imaging is performed 30 min after an intravenous injection of 18.5 MBq (500 microCi) 99mTc-pertechnetate (TcPT). Patients with a nonvisualized gland or patients with images suggesting dyshormonogenesis are reevaluated at age 3-4 y to exclude transient PCH. METHODS: To define the role of TcPT imaging in determining the exact etiology of PCH and the possibility of its being transient, we reviewed data from 103 neonates with PCH who had scintigraphy in our laboratory between 1970 and 1996 and we correlated the results with clinical outcome. RESULTS: Four patterns of thyroid scintigrams were recognized and these determined patient classification: (a) normal in 7 patients with false-positive heel-stick screening but normal venous blood hormone levels; (b) hypoplasia-ectopia in 32 patients requiring lifelong TRT; (c) nonvisualization in 35 patients-32 with agenesis requiring lifelong TRT and 3 with fetal thyroid suppression by maternal antibodies whose TRT was discontinued at a later age; and (d) dyshormonogenesis (markedly increased TcPT concentration) in 29 patients-25 with permanent PCH requiring lifelong TRT and 4 with transient PCH in whom TRT was discontinued. Of the 25 patients with dyshormonogenesis, 12 belonged to five families with two or three siblings having the same disorder. CONCLUSION: TcPT thyroid scintigraphy in the neonate with PCH provides a more specific diagnosis, is useful for selecting patients for re-evaluation to uncover transient PCH and discontinue TRT and defines dyshormonogenesis, which is familial and requires genetic counseling. It is also cost-effective.  (+info)

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis. (8/1018)

AIM: To determine whether pancreatitis associated protein (PAP) is a marker for cystic fibrosis which could be used in neonatal screening for the disease. METHODS: PAP was assayed on screening cards from 202,807 neonates. Babies with PAP > or = 15 ng/ml, or > or = 11.5 ng/ml and immunoreactive trypsinogen (IRT) > or = 700 ng/ml were recalled for clinical examination, sweat testing, and cystic fibrosis transmembrane regulator (CFTR) gene analysis. RESULTS: Median PAP value was 2.8 ng/ml. Forty four cases of cystic fibrosis were recorded. Recalled neonates (n = 398) included only 11 carriers. A receiver operating characteristic curve analysis showed that PAP above 8.0 ng/ml would select 0.76% of babies, including all those with cystic fibrosis, except for one with meconium ileus and two with mild CFTR mutations. Screening 27,146 babies with both PAP and IRT showed that only 0.12% had PAP > 8.0 ng/ml and IRT > 700 ng/ml, including all cases of cystic fibrosis. CONCLUSION: PAP is increased in most neonates with cystic fibrosis and could be used for CF screening. Its combination with IRT looks promising.  (+info)

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