The clinical content of preconception care: genetics and genomics
Received 17 June 2008; received in revised form 22 September 2008; accepted 25 September 2008.
The prevalence of paternal and maternal genetic conditions that affect pregnancy varies according to many factors that include parental age, medical history, and family history. Although some genetic conditions that affect pregnancy are identified easily early in life, other conditions are not and may require additional diagnostic testing. A complete 3-generation family medical history that includes ethnicity information about both sides of the family is arguably the single best genetic “test” that is applicable to preconception care. Assessment of genetic risk by an experienced professional has been shown to improve the detection rate of identifiable risk factors. Learning about possible genetic issues in the preconception period is ideal, because knowledge permits patients to make informed reproductive decisions. Options that are available to couples before conception include adoption, surrogacy, use of donor sperm, in vitro fertilization after preimplantation genetic diagnosis, and avoidance of pregnancy. Future technologic advances will increase the choices that are available to couples.
aNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD
bDepartment of Family Medicine, Boston University Medical Center, Boston, MA
Reprints: W. Gregory Feero MD, PhD, Chief, Genomic Healthcare Branch, National Human Genome Research Institute, Building 31, Room 4B09, 31 Center Dr, Bethesda, MD 20892
Supported in part by the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Conflict of Interest: Benjamin D. Solomon, MD; Brian W. Jack, MD; and W. Gregory Feero, MD, PhD have no conflict of interest including grants, honoraria, advisory board membership, or share holdings.
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