Antenatal Diagnosis of Fetal Abnormalities -

Antenatal Diagnosis of Fetal Abnormalities

James O. Drife, Dian Donnai (Herausgeber)

Buch | Softcover
363 Seiten
2011 | Softcover reprint of the original 1st ed. 1991
Springer London Ltd (Verlag)
978-1-4471-1856-5 (ISBN)
53,49 inkl. MwSt
In few areas of medicine is progress more spectacular than in the field of prenatal diagnosis. 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.
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.

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

Zusatzinfo XIV, 363 p.
Verlagsort England
Sprache englisch
Maße 170 x 242 mm
Themenwelt Medizin / Pharmazie Gesundheitsfachberufe Hebamme / Entbindungspfleger
Medizinische Fachgebiete Chirurgie Unfallchirurgie / Orthopädie
Medizin / Pharmazie Medizinische Fachgebiete Gynäkologie / Geburtshilfe
Medizin / Pharmazie Medizinische Fachgebiete Pädiatrie
Studium 2. Studienabschnitt (Klinik) Humangenetik
Naturwissenschaften Biologie Genetik / Molekularbiologie
Naturwissenschaften Biologie Zellbiologie
Schlagworte Antenatal Diagnosis • Congenital anomolies • Erbkrankheit • Fetal abnormality • Foetus/Erkrankung • Genetic Disease • Mißbildung • Screening • Ultrasound
ISBN-10 1-4471-1856-1 / 1447118561
ISBN-13 978-1-4471-1856-5 / 9781447118565
Zustand Neuware
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