TY - CHAP M1 - Book, Section TI - Preconception Carrier Screening A1 - McCarthy, Jeanette J. A1 - Mendelsohn, Bryce A. PY - 2016 T2 - Precision Medicine: A Guide to Genomics in Clinical Practice AB - Even before a child is conceived, much (but certainly not all) of the information needed to determine a future child's risk of having a genetic disease is already present in the genomes of his or her parents. For dominant diseases, the parent may be affected and the concept of screening does not apply. For recessive diseases, parents can carry a pathogenic mutation in one of their genes and will typically be unaffected and unaware that they carry a mutation. But if a child inherits both pathogenic mutations from two carrier parents, they are at risk of the disease (refer to Appendix 3 for more information on inheritance). For this reason, much of the advancement in Genomic and Precision Medicine has occurred in the field of prenatal and preconception carrier testing of prospective parents. This chapter will deal with these advancements and their practical use by nongeneticist physicians and practitioners such as primary care providers, obstetricians, pediatricians, midwives, and fertility specialists. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1134734651 ER -