Wallace Stephanie E, Gilvary Sara, Smith Michael J, Dolan Siobhan M
Sarah Lawrence College, Bronxville, NY, USA.
Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine/ Montefiore Medical Center, Bronx, NY, USA.
J Genet Couns. 2018 Jun;27(3):656-664. doi: 10.1007/s10897-017-0168-6. Epub 2017 Oct 27.
Families that choose to continue a pregnancy with a prenatal diagnosis of Trisomy 13/18 are a minority that present unique challenges for those in charge of their care. This study investigated the extent to which these patients felt supported by their healthcare providers, and any differences in the perceived level of support experienced by those working with a physician versus those working with a genetic counselor. Two online support groups, SOFT and Hope for Trisomy, distributed an online survey to their members. Means, standard deviations and chi-square analysis were calculated to describe their responses. One-hundred fourteen surveys were included in the final analysis. Respondents were more likely to agree that genetic counselors provided unbiased information in a way that they understood, compared to physicians. Review of qualitative responses found that portrayal of Trisomy 13/18 by healthcare providers used directive language when describing the lethality, morbidity and burden of the condition. Language included terms such as "incompatible with life" and comments on burden to other family members. Healthcare providers can assist families that receive a prenatal diagnosis of Trisomy 13 or 18 by providing up-to-date written resources and connecting them with support groups for parents who have received a similar diagnosis. Our study found that involving genetic counselors in the prenatal care of these patients is likely beneficial.
选择在产前诊断出13/18三体综合征后继续妊娠的家庭是少数群体,这给负责其护理的人员带来了独特的挑战。本研究调查了这些患者在多大程度上感到得到了医疗服务提供者的支持,以及与医生合作的患者和与遗传咨询师合作的患者在感知到的支持水平上是否存在差异。两个在线支持小组,即SOFT和18三体综合征希望组织,向其成员分发了一份在线调查问卷。计算了均值、标准差和卡方分析以描述他们的回答。最终分析纳入了114份调查问卷。与医生相比,受访者更有可能同意遗传咨询师以他们能理解的方式提供了无偏见的信息。对定性回答的审查发现,医疗服务提供者在描述13/18三体综合征的致死率、发病率和负担时使用了指导性语言。这些语言包括“与生命不相容”等术语以及对其他家庭成员负担的评论。医疗服务提供者可以通过提供最新的书面资料,并将接受类似诊断的父母与支持小组联系起来,来帮助那些产前诊断出13或18三体综合征的家庭。我们的研究发现,让遗传咨询师参与这些患者的产前护理可能是有益的。