Perinatal Genetics

Perinatal Genetics: Diagnosis and Treatment compiles the proceedings of the 15th Annual New York State Health Department Birth Defects Symposium (1984), offering a comprehensive exploration of the diagnosis and management of perinatal genetic disorders. The book addresses critical genetic conditions, including fragile X syndrome, phenylketonuria, and hypothyroidism, and provides both clinical and ethical perspectives on perinatal care. It serves as a resource for understanding how genetic factors contribute to early pregnancy loss and birth defects, while also outlining contemporary diagnostic and therapeutic strategies.

Key Features:

• Reviews epidemiology of very early pregnancy loss and the role of chromosomal errors in sperm, ovum, and zygote.
• Discusses cytogenetic abnormalities in spontaneous abortions and repetitive pregnancy loss.
• Covers prenatal genetic diagnosis techniques, including chorionic villus sampling.
• Explores prenatal treatment of biochemical disorders and management strategies for affected neonates.
• Includes chapters on in vitro fertilization, embryo transfer, and associated ethical considerations for late-term pregnancy terminations.
• Offers a multidisciplinary perspective relevant to perinatologists, neonatologists, obstetricians, pediatricians, and geneticists.
• Provides both clinical guidance and research insights for healthcare professionals involved in the care of pregnant women and newborns.