1. Blackburn, Susan PhD, RN,C, FAAN

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Genetics in Obstetrics and Gynecology, 3rd ed, by J.L. Simpson and S. Elias. Philadelphia: Saunders; 2003. 484 pages.


This book focuses on genetics as applied to obstetrical and gynecological care. The current edition updates the content of previous editions and expands the material on prenatal genetics diagnosis, pre-implantation diagnosis, use of fetal cells in maternal blood, congenital anomalies, breast and ovarian cancer, and sex differentiation. The book is divided into 5 units.


The first unit, General Principles (chapters 1-4), covers basics genetics. Content includes chromosomal abnormalities, molecular and Mendelian genetics, polygenic/multifactorial inheritance, and genetic history taking and counseling. This is not intended to be a basic genetics textbook. Therefore some of the content reviewed in these chapters assumes a prior introduction to basics of genetics and some of the terminology and descriptions may not be completely clear to someone who is a novice in this area.


The second unit (chapters 5-12) is Clinical Genetics. Chapter 5 discusses the genetics of pregnancy loss including timing and recurrence risks and provides a comprehensive review of both genetic and nongenetic etiologies. Chapter 6 examines genetics causes of mental retardation including gene syndromes, autosomal recessive inborn errors of metabolism, and autosomal dominant conditions. This is followed by a chapter focusing on pregnant women who have an underlying Mendelian disorder. With improved understanding and management of many disorders, more women with genetics disorders are surviving to childbearing age and becoming pregnant. This creates challenges to the women, her family, and her care providers. Clinical management and pregnancy considerations are described for pregnant women with disorders such as cystic fibrosis, phenylketonuria, hemoglobinopathies, Marfan syndrome, and others. The role of genetic factors in pre-eclampsia is also discussed in this chapter.


The next 2 chapters focus on genetic aspects of gynecological disorders. Chapter 8 discusses the genetic basis for common gynecologic disorders including many reproductive system anomalies and endometriosis. The following chapter continues the gynecologic focus, examining the genetic basis of gynecologic cancers, including cervical, ovarian, and breasts cancers and gestational trophoblastic disease. This chapter also includes a review of the major classes of cancer-causing genes and a section on genetic counseling and risk assessment with women with breast cancer.


Chapters 10 through 12 review sex differentiation and its disorders. These chapters begin with a review of reproductive embryology and its genetics control. Disorders of sex differentiation covered include gonadal abnormalities (hypogonadotropic hypogonadism), disorders of the external genitalia (female and male pseudohermaphroditism), disorders arising from increased numbers of sex chromosomes, and disorders of the male reproductive tract leading to infertility.


The third unit (chapters 13 through 17) focus on prenatal genetic diagnosis. Chapter 13 describes diagnostic procedures and describes the technique, considerations, and safety of amniocentesis, early amniocentesis, chorionic villus sampling, fetal blood, skin, muscle, and other tissue sampling, fetal liver biopsy, embryoscopy, and ultrasonography. Chapter 14 identifies common indicators for prenatal cytogenetic diagnosis, cytogenetic techniques, maternal serum analyte screening techniques, and fluorescence in situ hybridization (FISH). The use of the different techniques, issues, and accuracy are all addressed. Chapter 15 covers the diagnosis of Mendelian disorders and neural tube defects. The last 2 chapters in this unit focus on newer techniques of pre-implantation genetics diagnosis, used in conjunction with assisted reproductive technologies and the new technologies currently being developed for prenatal diagnosis by intact fetal cells or cell-free DNA in maternal blood.


The final unit (chapter 18) discusses ethical and legal issues in reproductive genetics. Topics include informed consent for genetics procedures, limits of genetics and screening, and an overview of guidelines for decision making. This chapter was brief and could have discussed the many issues in genetics in more depth.


Simpson and Elias have developed a useful reference book for educators and practitioners on recent advances and current genetic aspects of obstetrical and gynecological disorders. This book is not a basic text and not intended to substitute for more general genetics texts. It will be most useful as a reference for educators and clinicians working with pregnant women or in other area of women's healthcare as content on neonatal/pediatric disorders is limited.