OF the 1,500 distinguishable human diseases that are genetically determined, a recent review compiled more than 40 for which a prenatal diagnosis was potentially possible.1 This register includes diseases caused by chromosomal aberrations, sex-linked diseases, and metabolic disorders. In contrast to diseases that involve the interaction or blending of many different aberrant genes—polygenetic or multifactorial diseases—and usually appear somewhat later in life (eg, diabetes and atherosclerosis), metabolic diseases usually involve single gene mutations and adhere to the precepts of mendelian genetics. This means that armed with the appropriate information in regard to the dominant and recessive genetic traits, one can predict the statistical probability of the genetic nature of the offspring in regard to the disease entity.
In biochemical terms, the best understood group of genetic diseases are those in which a single gene mutation is involved, usually affecting the expression of an enzyme, hormone, or a particular protein.
Schneck L, Amsterdam D, Volk BW. Antenatal Diagnosis and Therapeutic Trends in Sphingolipidoses. JAMA. 1974;228(5):615–618. doi:10.1001/jama.1974.03230300051034
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