Fetal Medicine: Prenatal Diagnosis and Management / Edition 1

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This new book will enable family practitioners, obstetricians and pediatricians to answer the concerns of the families in their care. It is the first book to make information on this important topic so easily accessible to clinicians. The book is firmly rooted in clinical practice and based on many years of experience, much of it involving the development and implementation of new techniques for examining the fetus in utero. The techniques now available are assessed and better ways to identify pregnancies which are eligible to their application are proposed. The authors describe both the sampling and laboratory techniques available. Other sections cover both predictable and unpredictable pregnancy risks from genetic diseases to abnormal ultrasound, including the possibilities for laboratory evaluation, and the risks and limitations. Throughout the book, the special status of the fetus as a patient is emphasized and the concerns and questions of families are considered, making this the first fully comprehensive and authoritative volume on fetal medicine.

The book contains black-and-white illustrations.

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Editorial Reviews

Doody's Review Service
Description: First published in French in 1989, this book is a compilation of topics relating primarily to prenatal diagnosis and to a lesser extent, obstetrical and perinatal management of abnormal pregnancy. Recognized authors in the field of human genetics have contributed to this volume, which covers both cytogenetic and molecular genetic aspects of prenatal diagnosis to a greater extent than ultrasonography. To the extent that this book outlines our current understanding of fetal development and our ability to evaluate aberrant biology of the fetus, it is a welcome addition to the literature.
Purpose: The purpose is to help primary care physicians respond to questions from pregnant women and the families for whom they care regarding prenatal diagnostic topics. It is directed toward family practitioners, obstetricians, pediatricians, and would probably be a helpful reference for general internists as well. The editor believes that the timing of this book is appropriate because the prenatal diagnostic techniques and genetics that are reviewed are both current and accepted standards in clinical medicine. One of the additional goals of the editor is to define those pregnancies in which our technical advances in prenatal diagnosis should be utilized. The important concepts of population screening and enrichment of pregnancies deserving of invasive diagnostic techniques are also considered in this book.
Audience: The audience includes general practitioners, obstetricians, and pediatricians as well as trainees in these fields and any physician group providing primary care to reproductive-aged women.
Features: The chapters are grouped into four sections: fetal investigative techniques, predictable anomalies, no predictable anomaly risk, and practical applications. The first two parts contain much useful information regarding prenatal diagnostic techniques, laboratory techniques, chromosomal anomalies, and prenatal diagnosis of single gene disorders. In contrast, parts three and four are somewhat less useful to the reader. All chapters contain very useful figures and tabular data to complement the text information. Although appropriate references are cited, they are not as contemporary as they might be, with most articles published through 1990 only.
Assessment: There are a number of recent books and published reviews that cover the clinical information provided in this book. This text can serve as a good reference for generalists and is particularly insightful regarding both cytogenetics and molecular genetics in the context of prenatal diagnosis. Its shortcomings include limited information on clinical management and focused representation of French scientists in a field with an abundance of international experts. General physicians would find this textbook helpful in answering clinical questions related to prenatal diagnosis.

2 Stars from Doody
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Product Details

  • ISBN-13: 9780192619044
  • Publisher: Oxford University Press, USA
  • Publication date: 11/28/1995
  • Series: Oxford Monographs on Medical Genetics Series , #26
  • Edition description: New Edition
  • Edition number: 1
  • Pages: 304
  • Product dimensions: 6.38 (w) x 9.56 (h) x 0.86 (d)

Table of Contents

List of contributors
1 The fetus as patient 4
2 Prenatal diagnosis techniques 21
3 Laboratory techniques 45
Cell culture 45
Techniques of chromosomal analysis 49
Biochemical analysis of fetal samples 54
DNA analysis 62
4 Chromosomal anomalies 91
Definitions and mechanisms 91
Incidence or chromosomal anomalies 92
Cytogenetic indications 95
Problems in cytogenetic diagnosis 101
Direct chromosomal analysis of chorionic villus samples 104
Choice of prenatal sampling techniques for various indications 105
Mental retardation associated with Fragile X 107
5 Prenatal diagnosis of single-gene disorders 113
Inborn errors of metabolism 113
X-linked disorders 128
Congenital adrenal hyperplasias 133
Cystic fibrosis 140
Haemoglobinopathies 150
Haemophilias 159
Duchenne and Becker muscular dystrophies 168
Steinert myotonic dystrophy 181
Fanconi's anaemia 183
Phenylketonuria 185
alpha-1-antitrypsin deficiency 185
Immunodeficiencies 186
Hereditary skin disease 187
6 Diagnosis of neural tube defects 192
7 Ultrasound indications for laboratory testing 203
8 Maternal infection 216
Rubella 218
Toxoplasmosis 228
Herpes 233
Viral hepatitis 240
AIDS 242
Vaccinations 246
9 Prenatal diagnosis and its applications 253
10 Fetal therapy 270
11 Ethical issues 273
A document by the National Consultative Committee of Ethics on problems incurred by prenatal and perinatal diagnosis 275
References 278
Index 279
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