Perinatal Genetics - 1st Edition - ISBN: 9780125628556, 9781483264486

Perinatal Genetics

1st Edition

Diagnosis and Treatment

Editors: Ian H. Porter Norma H. Hatcher Ann M. Willey
eBook ISBN: 9781483264486
Imprint: Academic Press
Published Date: 28th January 1986
Page Count: 320
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Perinatal Genetics: Diagnosis and Treatment brings together the proceedings of the 15 Annual New York State Health Department Birth Defects Symposium held on September 30-October 1, 1984 in Albany, New York. The symposium provided a forum for clarifying and rationalizing certain aspects of diagnosis and treatment of perinatal genetic birth defects such as fragile X syndrome, phenylketonuria, and hypothyroidism.

Comprised of 17 chapters, this book begins with an epidemiological review of very early pregnancy loss, focusing on fertilization and implantation; the probability of loss between fertilization and implantation (on about the sixth day), and between implantation and the 14th day (the first day of the expected next period in a non-pregnant woman); and the contribution of chromosomal errors in the sperm, ovum, and zygote to early reproductive loss. The reader is then introduced to cytogenetic abnormalities in spontaneous abortions of recognized conceptions; repetitive spontaneous abortion; and prenatal genetic diagnosis by chorionic villus sampling. Subsequent chapters explore prenatal treatment of biochemical disorders; in vitro fertilization and embryo transfer; and moral issues concerning third trimester pregnancy terminations.

This monograph will appeal to perinatologists, neonatologists, obstetricians, pediatricians, and geneticists and should also serve as a useful guide for health professionals who provide care to pregnant women and their newborns.

Table of Contents



Section I

Very Early Pregnancy: Fertilization and Implantation Frequency and Cause of Loss

Cytogenetic Abnormalities in Spontaneous Abortions of Recognized Conceptions

Repetitive Spontaneous Abortion

Section II

Prenatal Diagnosis of the Fragile X Syndrome

Prenatal Diagnosis and Carrier Detection of Classical Phenylketonuria

Prenatal Genetic Diagnosis by Chorionic Villus Sampling

Section III

Prenatal Treatment of Biochemical Disorders

Fetal Surgery, Old Controversies about New Therapies

Diagnosis and Management of Ambiguous Genitalia in the Newborn

Current Perspectives on Fetal Hydrocephalus

Section IV

In Vitro Fertilization and Embryo Transfer

H-Y Antigen, Sex Determination and Gender Control

Section V

Environmental Factors and Human Birth Defects: Interpretation of Relative Risks in Clinical Genetics

Results of New York State Newborn Hypothyroidism Screening Program

Paternal Age and Genetic Outcome: Implications for Genetic Counseling

Section VI

Pedigrees or Catalogs?

When Are Third Trimester Pregnancy Terminations Morally Justifiable?




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© Academic Press 1986
Academic Press
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About the Editor

Ian H. Porter

Norma H. Hatcher

Ann M. Willey

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