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

Abstract

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.

Inherited thrombophilia and reproductive disorders

“…Until the results of further studies are published, testing for protein C, protein S, and AT deficiencies should be offered only to women with a personal/family history of VTE. Finally, full thrombophilia screening [AT, protein C, protein S, FVL mutation and APC Resistance Assay (APCR), Prothrombin Gene Mutation (G-20210-A, Lupus Anticoagulant (LA) and AntiCardiolipin antibodies (ACLA)] should be offered to women with RM and a common thrombophilic defect (FVL or Pm) diagnosed previously because the co-existence of another defect dramatically increases the risk for VTE and pregnancy complications (25,26). The American College of Obstetricians and Gynecologists (ACOG) did not recommend screening for inherited thrombophilia for women with a history of recurrent fetal loss or placental abruption because it is unclear whether anticoagulation treatment reduces the risk of recurrence.…”

Estudo Das Anomalias Cromossômicas Ocorridas Em Uma Maternidade Nos Anos De 2010 a 2014

“…O diagnóstico definitivo de anomalias congênitas é de fundamental importância para os pais cujos filhos são portadores de alguma anomalia. Apesar da frequência baixa, o diagnóstico definitivo promove o adequado e efetivo aconselhamento genético e reprodutivo, corroborando no provável sucesso perante uma nova gravidez (23) .…”

“…Assim como informar da possibilidade de uma reprodução assistida acompanhada pelo Diagnóstico Genético Pré-Implantação (PGD) para a seleção de embriões não portadores de anomalias cromossômicas, antes de sua implantação (19) . É importante que o profissional de saúde tenha em mente que o Aconselhamento Genético não envolve conhecimentos inacessíveis e pode ser realizado onde não há geneticista (23) . Quando não há geneticista disponível, outro profissional de saúde pode ser treinado para receber as informações necessárias para poder realizar o aconselhamento genético, mesmo que este aconselhamento seja de maneira simples, para dar informações básicas ao casal, que geralmente não dispõe de informação alguma sobre hereditariedade.…”

Das Gendiagnostikgesetz im Spannungsfeld von Humangenetik und Recht

“…13 Aus der strukturellen Aussageungenauigkeit präventivmedizinischer Informationen ergibt sich, dass allgemeine Begründungsmuster wie "Vorsorgen ist besser als heilen" nicht immer zutreffend sein müssen, sondern Vorsorgemaßnahmen ihrerseits wieder mit spezifischen Risiken verbunden sind. 22 Dies gilt insbesondere auch für den Bereich der prädiktiven Gendiagnostik. Auch hier können positive Befunde einen Untersuchungs-und Behandlungsautomatismus auslösen, der möglicher-weise ohne therapeutischen Nutzen, wohl aber mit psychischen und körperlichen Belastungen verbunden ist.…”

“…Im Rahmen prädiktiver Untersuchungen soll über die möglichen Auswirkungen der Kenntnis des genetischen Ergebnisses gesprochen werden, so dass eine informierte individuelle Entscheidungsfindung unter Berücksichtigung der persön-lichen und familiären Situation der ratsuchenden Person möglich wird (4,7,8,11,12,13,15,21,22).…”