Antenatal Diagnosis of Fetal Abnormalities

ISBN-13: 9781447118565 / Angielski / Miękka / 2011 / 363 str.

James O. Drife; Dian Donnai

Opis

In few areas of medicine is progress more spectacular than in the field of prenatal diagnosis. New clinical techniques such as chorion villus sampling, detailed ultrasound scanning and cordocentesis are being evaluated by obstetricians, and refinement of biochemical testing is widening the scope of maternal serum screening. In the laboratory, dramatic advances in molecular biology are occurring: families at risk of genetic disease can be investigated with gene probes, and preimplantation diagnosis of the embryo is now becom ing a reality. These technical advances have important ethical and practical implications, among which will be a further increase in public expectations of the standards required of antenatal services. Clini cians will need a high degree of skill to inform healthy women about the options for screening normal pregnancies, and to counsel high-risk women about the benefits and limitations of prenatal diagnosis. Obstetricians, scientists and health service managers will face the difficult task of deciding how prenatal diagnosis can be made available to women in a caring and cost-effective way. Recognising the rapid progress in this field, the Royal College of Obstetricians and Gynaecologists made prenatal diagnosis the subject of its 23rd Study Group. An international panel of leading researchers, whose expertise ranged from molecular biology to philosophy, was invited to participate in a three day workshop, with time for in-depth discussion as well as the presentation of papers."

Spis treści

Section I — Epidemiology and Routine Screening.- 1 Trends in Prevalence of Congenital Abnormalities.- 2 The Northern Regional Fetal Abnormality Survey.- Discussion.- 3 Routine Fetal Anomaly Screening.- 4 Some Practical Issues in the Antenatal Detection of Neural Tube Defects and Down’s Syndrome.- Discussion.- 5 Heterozygote Screening for Cystic Fibrosis.- Discussion.- Section II — Special Techniques: 1.- 6 Chorion Villus Sampling: The MRC European Trial.- 7 Invasive Diagnostic Procedures in the First Trimester.- Discussion.- 8 Cardiac Ultrasound Scanning.- 9 Doppler Ultrasound Studies and Fetal Abnormality.- Discussion.- Section III — DNA Analysis.- 10 Overview of Linkage and Probes.- Discussion.- 11 Diagnosis of Genetic Defects in Eggs and Embryos.- Discussion.- Section IV — Cytogenetic and Biochemical Disorders.- 12 Fetal Karyotyping Using Chorionic Villus Samples.- 13 Prenatal Diagnosis of the Fragile-X Syndrome.- Discussion.- 14 Advances in Diagnosis of Biochemical Disorders.- Discussion.- Section V — Special Techniques: 2.- 15 Cordocentesis.- 16 Intrauterine Therapy.- 17 Magnetic Resonance Imaging (MRI) Scanning.- Discussion.- Section VI — Counselling, Economics and Ethical Issues.- 18 Psychological Implications of Prenatal Diagnosis.- 19 Counselling after Prenatal Diagnosis.- Discussion.- 20 Economic Aspects of Prenatal Diagnosis.- 21 Ethical Aspects of Prenatal Diagnosis.- Discussion.- Section VII — Service Provision.- 22 Organisation of Genetic Services in the Netherlands.- 23 Genetic Services.- 24 National Coordination of Molecular Genetic Services.- Discussion.- 25 Provision of Service: The Obstetrician’s View.- Discussion.- Conclusions and Recommendations.

O autorze

A publication of findings by the Study Group of the prestigious Royal College of Obstetricians and Gynae- cologists, this book shows the rapid developments in prenatal diagnosis and gives recommendations for planning obstetric and genetic counselling, diagnosis and treatment services.