Book[editors], Mary E. Norton, Jeffrey A. Kuller and Lorraine Dugoff.
Summary: "Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, and Lorraine Dugoff fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers"--Publisher's description.
Contents:
Principles of medical genetics and genomics
Non-Mendelian genetics
Principles of genetic counseling
Cytogenetics: part 1, general concepts and aneuploid conditions
Cytogenetics: part 2, structural rearrangements and reproductive impact
Molecular genetics
Carrier screening
Serum and ultrasound based screening tests for aneuploidy
Cell free DNA screening
Ultrasound markers for aneuploidy
Genetic evaluation of fetal sonographic abnormalities
Chromosomal microarray analysis
Exome and genome sequencing
Prenatal diagnostic testing
Preimplantation genetic screening and diagnosis
Fetal treatment of genetic disorders.