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.
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.
