New horizons in neonatal screening : proceedings of the 9th International Neonatal Screening Symposium, & the 2nd Meeting of the International Society for Neonatal Screening, Lille, France, 13-17 September 1993
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書誌事項
New horizons in neonatal screening : proceedings of the 9th International Neonatal Screening Symposium, & the 2nd Meeting of the International Society for Neonatal Screening, Lille, France, 13-17 September 1993
（International congress series, no. 1041）
Excerpta Medica, c1994
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注記
Includes indexes
内容説明・目次
内容説明
This book covers a conference which was attended by representatives from 45 countries all of which are involved in medical prevention following systematic neonatal screening. Several topics were covered such as: what have been the scientific consequences of screening of phenylketonuria and hypothyroidism?; what other illnesses could also benefit from these preventative measures?; how can the new technology be used, with particular regard to molecular biology enabling an individual's genome to be studied at any given moment; should research into an illness be carried out, such as AIDS, simply in order to collect epidemiological information? These questions are discussed openly amongst scientists and national programme coordinators expounding their results, ideas and their differences.
目次
- Part 1 Ethical problems: a new basis for genetic screening policy, N.A. Holtzman
- newborn screening and informed consent, B.M. Knoppers. Part 2 Neonatal screening - programmes and results - long-term follow-up: long-term follow-up of patients with inborn errors of metabolism, R.J. Pollitt
- reproductive effects of inborn errors of metabolism, H.L. Levy. Part 3 Alternative strategies: a programmed clinical screening for inborn errors of metabolism in neonates, J.M. Saudubray et al
- selective detection among the high risk populations, instead of mass screening, proposed for countries with various homogeneous origins and a stratified distribution of abnormal genes, S. Arias. Part 4 Hyperphenylalaninemia: impact of systematic screening of PKU, J. Horst
- intellectual status of young adults with phenylketonuria (PKU), M.G. Beasley et al. Part 5 Hypothyroidism: the impact of systematic screening for congenital hypothyroidism, J.H. Dussault
- congenital hypothyroidism detected by neonatal screening - relationship between biochemical severity and intellectual development, Y. Ichiba and B. Inoue. Part 6 Congential adrenal hyperplasia: congenital adrenal hyperplasia - unsolved questions in neonatal screening, A. Larsson et al
- behavioural and follow-up studies of congenital adrenal hyperplasia, S.A. Berenbaum and B.L. Therrell. Part 7 Galactosemia: galactosemia - early treatment does not prevent long term problems, N.R.M. Buist and D.D. Waggoner
- neonatal screening for galactose metabolic defects, H. Schickling et al. Part 8 Haemoglobinopathies: neonatal screening for haemoglobinopathies in North West London, UK, S.C. Davies et al. Part 9 Cystic fibrosis: clinical evaluation of a cohort of 60 cystic fibrosis children identified through neonatal screening, J. Brouard et al
- neonatal intestinal obstruction and immunoreactive trypsin, C. Pasquet-Ferre et al. Part 10 Neuroblastoma: VMA mass screening for neuroblastoma - its advantages and disadvantages, S. Ogita
- neuroblastoma screening - the North American experience, B. Lemieux et al. Part 11 Hyperlipoproteinemia: neonatal screening for familial hypercholesterolemia by radioimmunoassay of apolipoproteins B and A-1 in dried blood spots, F. Lemmonnier et al. Part 12 Fatty acid oxidation. Part 13 Miscellaneous. Part 14 Developing countries. Part 15 Neonatal screening experiences. Part 16 Prenatal screening. Part 17 Techniques and quality control.
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