Antenatal and Neonatal Screening [Second Edition]

Abstract

“Antenatal and Neonatal Screening”, has been largely modified since it was first published in 1984, but the approach remains the same. The focus is the prevention of disease, and the reduction of serious morbidity and mortality. The book has four parts, the first dealing with the principles of screening, the second with screening for specific disorders (antenatal or neonatal screening), the third describing clinical procedures used in screening, and the last discussing ethical aspects and presenting conclusions from the editors. Thirty different contributors have participated to the production of this book, the majority from UK. The first part (57 pages) of the book deals with the principles of screening. It gives a thorough explanation of what screening involves, with definitions having been modified since the first edition, and presents epidemiological methodologies using one or multiple parameters, clearly indicating what can be obtained by such screening methodologies and how to perform them. The second and main part (335 pages) deals with screening for specific disorders in populations or subpopulations. It is divided into three subchapters for antenatal screening, antenatal or neonatal screening, and purely neonatal screening. Each chapter follows a common structure: the disorder is first described, its birth prevalence given, and then the relevant screening and diagnostic tests are largely discussed including quantitative estimates of their performance whenever possible; flow charts of screening strategies are given making it easily read. The antenatal subchapter presents: neural tube defects, Down’ syndrome, X-linked disorders, Tay-Sachs disease, acquired infections, disorders associated with hyperglycemia in pregnancy, disorders associated with high blood pressure, and acquired hematologic disorders; a large addition has been included in this part since the 1st edition. The second subchapter deals with diseases that can be screened in either the antenatal or neonatal period: genetic hematological diseases, rhesus and other hemolytic diseases, and cystic fibrosis; this part also gives a new aspect of screening, with pre-implantatory screening procedures being described. The last part concerning neonatal screening presents phenylketonuria and other inherited metabolic defects, congenital hypothyroidism, and congenital dislocation of the hip. Obviously, this chapter cannot be exhaustive, and there are a large number of potentially screenable diseases that are not presented. The choice of diseases is not always clearly understandable. The third part (140 pages) deals with the management of pregnancy and describes the procedures used for that purpose: ultrasound and specific ultrasonic scanning for congenital abnormalities, amniocentesis and chorionic villi sampling, fetal blood and tissue sampling, and continuous electronic fetal monitoring. This chapter is very well documented, and a large amount of data about the procedures is discussed. The last small fourth chapter deals with ethical aspects and conclusions and a summary from the editors. This book gathers together a large amount of data about antenatal and neonatal screening. It is easy to consult and give a very thorough review of antenatal and neonatal methodologies and procedures. It should be of a great value to anyone concerned with screening procedures: obstetricians, public health doctors, fetal medicine doctors, epidemiologists, health care providers.... Claude Dorche Antenatal and Neonatal Screening [Second Edition] Nicholas Wald, Ian Leck (Editors), Oxford University Press, ISBN 0-19-262826-7, Hardcover, 591 pages, £ 75.00 Hum Genet (2002) 110 :386 DOI 10.1007/s00439-002-0694-6

DOI: 10.1007/s00439-002-0694-6
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@article{Dorche2002AntenatalAN, title={Antenatal and Neonatal Screening [Second Edition]}, author={Claude Dorche}, journal={Human Genetics}, year={2002}, volume={110}, pages={386-386} }