Assessing ethnicity in preconception counseling: genetics--what nurse practitioners need to know

Abstract

Purpose: To define and discuss five genetic disorders--Tay-Sachs, sickle cell anemia, Canavan's disease, thalassemia, and cystic fibrosis (CF)--and to explain the importance of the nurse practitioner's (NP's) assessment of clients' ethnicity during preconception counseling, which should address these genetic conditions.

Data sources: Review of literature from professional journals, professional organizations' Web sites, guidelines from the American College of Obstetricians and Gynecologists, the National Institute of Health Consensus Statement, and the authors' professional clinical experience.

Conclusions: The goal of preconception counseling is to identify potential or actual medical, psychological, or social conditions that may affect the mother or fetus. NPs are often the health care providers that initiate preconception counseling to women in varied primary care settings. NPs must be familiar with ethnicity-related inheritable conditions in order to provide appropriate client information and education and to implement testing and, when needed, referral for genetic counseling to individuals and families at risk for genetic disorders such as Tay-Sachs, Canavan's disease, CF, sickle cell anemia, and thalassemia.

Implications for practice: NPs providing health care to women of child-bearing age should assess the client's use of contraception and intent for future pregnancy. Preconception counseling when indicated should be initiated to all women to increase their potential for healthy pregnancy outcomes. Although a comprehensive personal, family, medical, and psychosocial history and initiation of folic acid are the mainstays of preconception counseling, assessment for risk of ethnicity-related genetic conditions must also be included in prepregnancy health care.