Preconception and prenatal care

Abstract When adults are diagnosed with a genetic condition or have family members with a genetic condition, they may want to learn about their reproductive risks. Various genetic screens and tests are available before and during a pregnancy to determine the risk for offspring to be affected with genetic conditions, including conditions that are not ascertainable through family history. Depending on the indication for screening or the reason for parental concern, a provider may offer preconception or prenatal carrier screening, prenatal maternal serum screening or diagnostic testing, or in vitro fertilization with preimplantation genetic testing. Pregnancy itself can also influence the progression or severity of genetic disorders. We will highlight the more common of these conditions with recommendations for their management related to reproduction and pregnancy and also provide an overview of prenatal, carrier, and preimplantation genetic screening and testing options.