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Genetic disorders and the fetus: diagnosis, prevention, and treatment, 5th edition
  1. E Sweeney

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    Edited by Aubrey Milunsky. The John Hopkins University Press, 2004, £160.50 (hardback), pp 1177. ISBN 0 8018 7928 0


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    The prospect of a genetic disorder in a pregnancy can often instil abundant confusion and trepidation in the doctors caring for the family, let alone the affected family themselves. Genetic disorders, although often rare as individual conditions, collectively affect a significant number of pregnancies. With our increasing knowledge of the genetic basis of many conditions, the revelation of the human genome, and increasing technological advances available, the options available for diagnosis and management of these conditions are constantly expanding. Against the backdrop of the medical management of these situations the complex ethical issues which arise must be considered with equal importance.

    The 32 chapters of this publication have contributions from international experts in their individual field. Each subject is covered in a comprehensive and easily digested manner and the reference list following each chapter is a valuable resource for those wishing to probe more deeply in to the area in question. The scene is set with an introductory chapter discussing the principles and practices of genetic counselling with particular reference to the areas of pre-conceptual, perinatal, and postnatal counselling. In other chapters, both the benefits and limitations of prenatal testing techniques, such as chorionic villus sampling and amniocentesis, are explored. The difficult area of prenatal diagnosis of sex chromosome abnormalities and the resulting decision making dilemma faced by parents is also addressed. In addition to genetic diagnostic techniques such as chromosome analysis and DNA testing, other modalities are discussed, including ultrasound and maternal serum screening. Two whole chapters are dedicated to maternal serum screening with particular discussion of multi-analyte second trimester maternal serum screening for chromosomal and neural tube defects, and also the increasing adoption of first trimester serum screening together with fetal ultrasound markers. The ultrasound detection of fetal abnormality is well illustrated, and a chapter on fetal magnetic resonance imaging brings this book right up to date with the advances in prenatal imaging technology. While still very much in the research arena, the analysis of fetal cells and fetal DNA and RNA from the maternal circulation holds possibilities for future prenatal diagnosis, and these areas are explored. Chapters on preimplantation genetic diagnosis and fetal therapy discuss the applications of these recent but expanding developments.

    Chapters reviewing the prenatal diagnosis of specific conditions such as fragile X syndrome, cystic fibrosis, various metabolic conditions, and blood disorders allow easy reference to these particular conditions individually. There is also discussion of the prenatal diagnosis of adult onset disorders such as malignancies and neurodegenerative conditions, and the ethical dilemmas that these situations pose are highlighted. The difficult area of termination of pregnancy is well covered along with guidelines, techniques, limitations, and complications.

    As we increasingly turn to electronic sources for information, it is still extremely useful to have an up to date, authoritative, and comprehensive text at hand. This approachable and very readable book will be of great help to geneticists, obstetricians, and paediatricians alike, and would also be of interest to primary care physicians, midwives, and medical students.

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