Clinical outcomes of newborn screening for cystic fibrosis.
(9/1018)
AIM: To determine how early diagnosis of cystic fibrosis, using neonatal screening, affects long term clinical outcome. METHODS: Fifty seven children with cystic fibrosis born before neonatal screening was introduced (1978 to mid 1981) and a further 60 children born during the first three years of the programme (mid 1981 to 1984), were followed up to the age of 10. The cohorts were compared on measures of clinical outcome, including height, weight, lung function tests, chest x-ray picture and Shwachman score. RESULTS: Age and sex adjusted standard deviation scores (SDS) for height and weight were consistently higher in children screened for cystic fibrosis than in those born before screening. At 10 years of age, average differences in SDS between groups were 0.4 (95% CI -0.1, 0.8) for weight and 0.3 (95% CI -0.1, 0.7) for height. This translates to an average difference of about 2.7 cm in height and 1.7 kg in weight. Mean FEV1 and FVC (as percentage predicted) were significantly higher in the screened cohort at 5 and 10 years of age, with an average difference of 9.4% FEV1 (95% CI 0.8, 17.9) and 8.4% FVC (95% CI 1.8, 15.0) at 10 years. Chest x-ray scores were not different between the groups at any age, but by 10 years screened patients scored an average 5.3 (95% CI 1.2, 9.4) points higher on the Shwachman score. CONCLUSION: Although not a randomised trial, this long term observational study indicates that early treatment made possible by neonatal screening may be important in determining subsequent clinical outcomes for children with cystic fibrosis. For countries contemplating the introduction of neonatal screening for cystic fibrosis, its introduction to some areas in a cluster randomised design will permit validation of studies performed to date. (+info)
Prevalence and clinical significance of cardiac murmurs in neonates.
(10/1018)
AIM: To determine the prevalence and clinical significance of murmurs detected during routine neonatal examination. METHODS: In a two year prospective study, 7204 newborn babies underwent routine examination by senior house officers. All those with murmurs underwent echocardiographic examination. All babies presenting later in infancy were also identified, to ascertain the total prevalence of congenital heart disease in infancy. RESULTS: Murmurs were detected in 46 babies (0.6%) of whom 25 had a cardiac malformation. The most common diagnosis was a ventricular septal defect, although four babies had asymptomatic left heart outflow obstruction. A further 32 infants from the same birth cohort had a normal neonatal examination but were found to have a cardiac malformation before 12 months of age. CONCLUSIONS: The neonatal examination detects only 44% of cardiac malformations which present in infancy. If a murmur is heard there is a 54% chance of there being an underlying cardiac malformation. Parents and professionals should be aware that a normal neonatal examination does not preclude a clinically significant cardiac malformation. The detection of a murmur should prompt early referral to a paediatric cardiologist for diagnosis or appropriate reassurance. (+info)
Presentation of congenital heart disease in infancy: implications for routine examination.
(11/1018)
AIM: To investigate the performance of routine neonatal and 6 week examinations for detecting congenital heart disease. METHODS: A retrospective review of findings on clinical examination was conducted of a cohort of live born infants with congenital heart disease in one health region in 1987-94. RESULTS: Of 1590 babies with congenital heart disease, 523 (33%) presented before neonatal examination because of symptoms or non-cardiac abnormalities. 1061 underwent routine neonatal examination which was abnormal in 476 (45%), but only 170 were referred directly for diagnosis. Of 876 discharged with no diagnosis, 306 presented or died undiagnosed before 6 weeks. At 6 weeks 252 of 569 babies underwent a second routine examination which was abnormal in 164 (65%). CONCLUSIONS: Routine neonatal examination fails to detect more than half of babies with heart disease; examination at 6 weeks misses one third. A normal examination does not exclude heart disease. Babies with murmurs at neonatal or 6 week examinations should be referred for early paediatric cardiological evaluation which will result either in a definitive diagnosis of congenital heart disease or in authoritative reassurance of normal cardiac anatomy and function. (+info)
Screening for cystic fibrosis and its evaluation.
(12/1018)
Cystic fibrosis (CF) is a recessively inherited disorder for which screening has been proposed. A number of different screening strategies have been suggested, including prenatal, preconceptional, school and neonatal carrier screening, as well as screening of newborns to identify affected infants. We discuss the advantages and disadvantages of these strategies, and identify gaps in knowledge relevant to decisions to introduce a screening programme for cystic fibrosis. Screening to identify carriers during the newborn period or among school age children is inadvisable, mainly on psychosocial and cost-effectiveness grounds. Although early diagnosis of CF may improve prognosis, current scientific evidence is not sufficient to support screening newborns to identify affected infants. of the remaining two options, prenatal screening has a practical advantage because of existing facilities, while with screening before conception all reproductive options are, in principle, open to detected carrier couples. If adequate pre- and post-test counselling can be provided, both two types of screening could be introduced. (+info)
Evaluating newborn screening programmes based on dried blood spots: future challenges.
(13/1018)
A UK national programme to screen all newborn infants for phenylketonuria was introduced in 1969, followed in 1981 by a similar programme for congenital hypothyroidism. Decisions to start these national programmes were informed by evidence from observational studies rather than randomised controlled trials. Subsequently, outcome for affected children has been assessed through national disease registers, from which inferences about the effectiveness of screening have been made. Both programmes are based on a single blood specimen, collected from each infant at the end of the first week of life, and stored as dried spots on a filter paper or 'Guthrie' card. This infrastructure has made it relatively easy for routine screening for other conditions to be introduced at a district or regional level, resulting in inconsistent policies and inequitable access to effective screening services. This variation in screening practices reflects uncertainty and the lack of a national framework to guide the introduction and evaluation of new screening initiatives, rather than geographical variations in disease prevalence or severity. More recently, developments in tandem mass spectrometry have made it technically possible to screen for several inborn errors of metabolism in a single analytical step. However, for each of these conditions, evidence is required that the benefits of screening outweigh the harms. How should that evidence be obtained? Ideally policy decisions about new screening initiatives should be informed by evidence from randomised controlled trials but for most of the conditions for which newborn screening is proposed, large trials would be needed. Prioritising which conditions should be formally evaluated, and developing a framework to support their evaluation, poses an important challenge to the public health, clinical and scientific community. In this chapter, issues underlying the evaluation of newborn screening programmes will be discussed in relation to medium chain acyl CoA dehydrogenase deficiency, a recessively inherited disorder of fatty acid oxidation. (+info)
Screening in child health.
(14/1018)
Screening programmes in child health have evolved on the basis of individual enthusiasm and professional consensus, rather than being based on objective evidence of benefit. Three reviews have been carried out in the UK over the past 10 years. The only programmes which show robust evidence of effectiveness are those for PKU and hypothyroidism. The value of screening for hearing loss and vision defects is widely accepted, but there are many unresolved issues. Programmes for detection of congenital dislocation of the hip, congenital heart disease and growth disturbances are of doubtful value. Early identification of developmental problems is stressed by parents, but screening may not be the best way to achieve this. The UK programme of well-child care places increasing emphasis on promotion of physical and emotional health; screening tests should either be subjected to quality monitoring, or removed from the programme if they cannot fulfil the classic criteria of Wilson and Jungner. (+info)
Randomised controlled trial of effect of Baby Check on use of health services in first 6 months of life.
(15/1018)
OBJECTIVE: To evaluate the effect of Baby Check, an illness scoring system for babies of 6 months or less, on parents' use of health services for their baby. DESIGN: Randomised controlled trial. SETTING: 13 general practices in Glasgow. SUBJECTS: 997 newly delivered mothers, randomised to receive either Baby Check and Play It Safe, an accident prevention leaflet (n=497), or Play It Safe alone (control group, n=500). MAIN OUTCOME MEASURES: Data on consultations and referrals extracted from general practice notes after 6 months. RESULTS: At the time of recruitment, maternal characteristics were similar for both groups (mean maternal age 29 years; deprivation categories 6 and 1 in both groups; 424 (45%) mothers were primiparous). At 6 months, general practice notes were available for 467 (94%) of the Baby Check group and 468 (94%) of the control group. The number of general practitioner consultations did not differ between the groups: median number of consultations was 2 (interquartile range 1 to 4) in the Baby Check group, and 2 (1 to 3) in the control group. Use of out of hours services did not differ significantly between the two groups (86 v 85; P=0.93). CONCLUSION: Distributing Baby Check to an unselected group of mothers does not affect use of health services for infants up to 6 months of age. (+info)
Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening.
(16/1018)
BACKGROUND: Central Middlesex Hospital, in northwest London, has screened neonates for hemoglobinopathies, using the established manual technique of isoelectric focusing (IEF) since 1989. Recently, this laboratory has faced a large increase in the number of samples tested per year. This study compared the detection of hemoglobin abnormalities between the existing manual IEF method and that of automated cation-exchange HPLC to determine the reliability of HPLC and whether an automated system would save time in the laboratory. METHODS: Over a 15-month period, 25 750 blood samples, collected by heel prick onto filter paper, were tested using HPLC, and the results were compared with those obtained with IEF. RESULTS: HPLC and IEF each identified 568 patients with FAS, 151 with FAC, 49 with FAD-Punjab, 23 with FS, 3 with FC, 6 with FSC, 5 with FE, and 1 with FD. IEF detected 62 patients with FAE, whereas HPLC detected 63. This additional FAE was observed on repeat IEF. One additional heterozygote detected by HPLC was initially not observed by IEF, but was detected on repeat IEF. HPLC detected all but six cases of Hb Barts observed by IEF. One double heterozygote and four heterozygotes were detected by IEF, but not by HPLC. The detection of hemoglobin variants expressed at low concentrations was comparable for the two methods, and carryover was not observed in routine analysis on HPLC. CONCLUSIONS: HPLC is a sensitive, efficient, and time-saving alternative to IEF for the neonatal screening of common hemoglobinopathies. (+info)