Foundations of Perinatal Genetic Counseling

Abstract The Foundations of Perinatal Genetic Counseling (second edition) provides an overview of the core concepts needed to practice perinatal genetic counseling, including the basics of pregnancy, the genetic counseling appointment, family and pregnancy history, prenatal screening, prenatal diagnosis, common indications, carrier screening, management of high-risk pregnancy, assisted reproductive technology, preimplantation genetic testing, and common situations arising in perinatal genetic counseling. It discusses general obstetrical information as it pertains to perinatal genetic counseling including topics such as calculating gestational age, understanding gravidity and parity, and reproductive options. This book reviews the key components of a perinatal genetic counseling session, how to take a perinatal family, medical, and pregnancy history as well as prenatal risk evaluation based on age, family and pregnancy history, testing results, and ultrasound findings. Detailed descriptions of both prenatal screening and diagnostic testing options including biochemical screening, cell-free DNA screening, amniocentesis, and chorionic villus sampling are delineated as well as an explanation of carrier testing including methods of testing, types of conditions, and indications for testing. This text provides information on the indications for referral to a perinatal genetic counselor such as age-related risks, personal and family history, ultrasound anomalies, teratogen exposure, recurrent pregnancy loss, and preconception counseling. It also reviews the management and types of referrals made in a high-risk pregnancy. Assisted reproductive technology is reviewed as well as descriptions of preimplantation genetic testing types. It also describes common psychosocial and ethical situations encountered in perinatal genetic counseling.