Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors

摘要

The objective of this document is to provide recommendations for genetic evaluation and counseling of couples with recurrent miscarriage (RM). The recommendations are the opinions of the multidisciplinary Inherited Pregnancy Loss Working Group (IPLWG), with expertise in genetic counseling, medical genetics, maternal fetal medicine, internal medicine, infectious disease, cytogenetics, and coagulation disorders. The IPLWG defines RM as three or more clinically recognized consecutive or non-consecutive pregnancy losses occurring prior to fetal viability (<24 weeks gestation). These recommendations are provided to assist genetic counselors and other health care providers in clinical decision-making, as well as to promote consistency of patient care, guide the allocation of medical resources, and increase awareness of the psychosocial and cultural issues experienced by couples with RM. The IPLWG was convened with support from the March of Dimes Western Washington State Chapter and the University of Washington Division of Medical Genetics. The recommendations are U.S. Preventive Task Force Class III, and are based on clinical experiences, review of pertinent English-language published articles, and reports of expert committees. This document reviews the suspected causes of RM, provides indications for genetic evaluation and testing, addresses psychosocial and cultural considerations, and provides professional and patient resources. These recommendations should not be construed as dictating an exclusive course of medical management, nor does the use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the circumstances of a specific case, should always supersede these recommendations.