Advances in preconception genetic counseling

Abstract

Preconception counseling offers couples contemplating pregnancy the opportunity to identify and reduce potential pregnancy risks, plan care for known risks, and establish early prenatal care. The goal of preconception counseling is to promote physically and emotionally healthy parents in an attempt to ensure optimal prenatal, intrapartum, and postpartum maternal and fetal health. The advantages of addressing these issues prior to conception include the opportunity of giving recurrence or occurrence risk information for informed decision regarding pregnancy, the accessibility of more reproductive options such as preimplantation genetic diagnosis, and the opportunity to make lifestyle, medical, and behavior alterations for optimal maternal and fetal outcome. This article will discuss advances and updates in preconception genetic counseling including risk assessment and potential intervention for concerns identified through evaluation of family history, ethnicity, maternal age, medical and obstetric history, and associated psychosocial and nursing implications. Significant advances have emerged in the areas of cystic fibrosis carrier screening, first trimester screening, preimplantation genetic diagnosis, and detection and treatment of maternal thrombophilia.