TY - JOUR
AU1 - Lazarin, Gabriel A.
AU2 - Goldberg, James D.
AB - Purpose of review Expanded carrier screening, which detects carriers for a large number of autosomal recessive and X-linked diseases, is increasing in clinical utilization. A recent joint statement from multiple professional societies, in addition to a growing literature base, offers perspective on rationale, decision points, and reasonable methods of implementation. Recent findings Current literature addresses three areas: pre- and posttest education, including optimal use of formal genetic counseling, and differing characteristics of laboratory tests. Surveys of obstetricians and genetics providers also offer insight into optimal practice methods. Summary We review the carrier screening process in chronological sequence – pretest, test selection, and posttest results disclosure – and points to be considered, recommending possible practice protocols based on available literature and our combined laboratory and clinical practice experience.
TI - Current controversies in traditional and expanded carrier screening
JF - Current Opinion in Obstetrics and Gynecology
DO - 10.1097/GCO.0000000000000256
DA - 2016-04-01
UR - https://www.deepdyve.com/lp/wolters-kluwer-health/current-controversies-in-traditional-and-expanded-carrier-screening-7REd3ijvlV
SP - 136
EP - 141
VL - 28
IS - 2
DP - DeepDyve
ER -