Abstract
This chapter reviews the basic structure and function of our genetic material and the alterations that can lead to benign variation as well as disease. Molecular changes in the DNA can range from simple, nucleic acid substitutions to alteration in gene expression. A discussion of testing strategies follows that reviews the benefits and limitation of each test. A summation of the ideal tissue types for the various fetal genetic tests is included. The chapter concludes with a brief discussion of emerging molecular technologies, including gene editing.
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