title: Innovations in prenatal genetic testing beyond the fetal karyotype.
abstract: Current trends in prenatal genetic testing will affect nursing practice, education, research, and policy making. Although fetal genetic testing has been the traditional focus, new technologies open the possibility of acquiring genomic information for both parents and offspring, revealing windows onto individuals' lifelong health. Noninvasive prenatal testing of cell-free fetal DNA also has become a reality. Some of the recent advances in detecting cytogenetic and heritable molecular variants in pregnancy are overviewed. Exemplars of prenatal tests are presented and related ethical, legal, and social implications are considered. Educating clinicians with updated genomic knowledge has been outpaced by new technologies and direct-to-consumer marketing of prenatal tests. Implications for nursing are discussed.
authors.affiliation: Department of Health Promotion and Development, University of Pittsburgh School of Nursing, Pittsburgh, PA. Electronic address: safounds@comcast.net.
authors.forename: Sandra
authors.initials: S
authors.lastname: Founds
mesh_terms: D005260:Female; D005820:Genetic Testing; D005826:Genetics, Medical / Q000193:education*; D006291:Health Policy; D006801:Humans; D009736:Nursing Process / Q000458:organization & administration*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000451:nursing*
keywords: Next-generation sequencing; Noninvasive prenatal diagnosis; Noninvasive prenatal testing; Whole genome sequencing