Perinatal genetics : diagnosis and treatment /

Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor Corporativo: New York State Health Department Birth Defects Symposium Albany, N.Y.
Otros Autores: Porter, Ian H. (Editor ), Hatcher, Norma H. (Editor ), Willey, Ann M. (Editor )
Formato: Electrónico Congresos, conferencias eBook
Idioma:Inglés
Publicado: Orlando, Florida ; London, England : Academic Press, Inc., 1986.
Colección:Birth Defects Institute symposia.
Temas:
Fetus > Abnormalities > Genetic aspects > Congresses.
Prenatal diagnosis > Congresses.
Fetus > Abnormalities > Treatment > Congresses.
Genetic counseling > Congresses.
Abortion > Moral and ethical aspects > Congresses.
F�tus > Malformations > Aspect g�en�etique > Congr�es.
Diagnostics pr�enatals > Congr�es.
F�tus > Malformations > Traitement > Congr�es.
Conseil g�en�etique > Congr�es.
Avortement > Aspect moral > Congr�es.
MEDICAL > Gynecology & Obstetrics.
Abortion > Moral and ethical aspects.
Fetus > Abnormalities > Genetic aspects.
Fetus > Abnormalities > Treatment.
Genetic counseling.
Prenatal diagnosis.
Congress
Conference papers and proceedings.
Actes de congr�es.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Front Cover; Perinatal Genetics: Diagnosis and Treatment; Copyright Page; Table of Contents; Preface; Acknowledgements; SECTION I: PREGNANCY LOSS; CHAPTER 1. VERY EARLY PREGNANCY: FERTILIZATION AND IMPLANTATION FREQUENCY AND CAUSE OF LOSS; INTRODUCTION; THE PROBABILITY OF FERTILIZATION; THE FREQUENCY OF REPRODUCTIVE LOSS; EXPECTATIONS OF SURVIVAL AND LOSS AT EACH STAGE OF GESTATION; THE CONTRIBUTION OF ANEUPLOID* ANOMALIES TO EARLY LOSS; CONCLUSION; REFERENCES; CHAPTER 2. CYTOGENETIC ABNORMALITIES IN SPONTANEOUS ABORTIONS OF RECOGNIZED CONCEPTIONS; REFERENCES.
  • CHAPTER 3. REPETITIVE SPONTANEOUS ABORTIONI. RECURRENCE RISKS; III. CAUSES OF REPETITIVE ABORTIONS; IV. RECOMMENDED CLINICAL EVALUATION; REFERENCES; SECTION II: PRENATAL DIAGNOSIS (Including Chorion Villus Sampling); CHAPTER 4. PRENATAL DIAGNOSIS OF THE FRAGILE X SYNDROME; PRENATAL DIAGNOSIS OF THE FRAGILE X SYNDROME; METHODS; RESULTS; FAMILY HISTORY OF FRA (X) SYNDROME; REFERENCES; CHAPTER 5. PRENATAL DIAGNOSIS AND CARRIER DETECTION OF CLASSICAL PHENYLKETONURIA; SUMMARY; ACKNOWLEDGEMENT; REFERENCES; CHAPTER 6. PRENATAL GENETIC DIAGNOSIS BYCHORIONIC VILLUS SAMPLING; INTRODUCTION.
  • I. History of Chorionic Villus Sampling (CVS)II. Sampling Procedure; III. Cytogenetic Methods; IV. Biochemical Methods; V. Results; VI. Discussion; REFERENCES; SECTION III: PRENATAL MANAGEMENT AND TREATMENT; CHAPTER 7. PRENATAL TREATMENT OF BIOCHEMICAL DISORDERS; Antenatal Therapy for Metabolic Disorders; Methylmalonic Acidemia (MMA); Multiple Carboxylase Deficiency; Abnormalities of Mineral Metabolism; Galactosemia; Congential Adrenal Hyperplasia (CAH); Miscellany and Speculation; REFERENCES; CHAPTER 8. FETAL SURGERY, OLD CONTROVERSIES ABOUT NEW THERAPIES; INTRODUCTION; FETAL TRANSFUSIONS.
  • Current problemswhere do we go from here; references; chapter 9. diagnosis and management of ambiguous genitalia in the newborn; normal sexual development; female pseudohermaphroditism; male pseudohermaphroditism; disorders of testosterone biosynthesis; disorders of testosterone metabolism; other unclassified forms of male pseudohermaphroditism; management of the patient with ambiguous genitalia; references; chapter 10. current perspectives onfetal hydrocephalus; diagnosis; outcome; management; references; section iv: in vitro fertilization and sex determination.
  • Chapter 11. in vitro fertilization and embryo transferrecruitment and selection of the dominant follicle; stimulation of the ovarian/menstrual cycle; references; chapter 12. h-y antigen, sex determination and gender control; a. introduction; b. h-y and the testis; c. abnormalities of sex determination; d. new techniques in the study of sex determination; e. h-y in the control of sex ratio; references; section v: miscellaneous; chapter 13. environmental factors and human birth defects: interpretation of relative risks in clinical genetics; addendum-january 1986; acknowledgements; references.

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