Division of Genetics, Department of Medicine, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
Am J Med Genet A. 2009 Nov;149A(11):2361-7. doi: 10.1002/ajmg.a.33082.
We sought to provide evidence-based recommendations to physicians on how to best deliver a prenatal diagnosis of DS to expectant parents. Our study design consisted of searching Medline and PsychInfo from 1960 to 2008, as well as Web sites from academic organizations and other nonprofit or private organizations, using the terms "Down syndrome," "Trisomy 21," "mongolism," "prenatal diagnosis," "postnatal care," and "delivery of health care." Our results showed that a health care professional knowledgeable about DS with specific training in the delivery of sensitive diagnoses should be part of the first conversation. A prenatal diagnosis of DS should be presented in person or at a pre-established time by phone. Physicians should provide accurate information about medical conditions associated with DS and connect parents to local DS support groups and other resources. We conclude that physicians can deliver prenatal diagnoses of DS in a sensitive manner that can be appreciated by expectant parents.
我们旨在为医生提供有关如何向准父母最好地提供唐氏综合征产前诊断的循证建议。我们的研究设计包括从 1960 年到 2008 年在 Medline 和 PsychInfo 上进行搜索,以及在学术组织和其他非营利或私人组织的网站上使用“唐氏综合征”、“21 三体”、“蒙古症”、“产前诊断”、“产后护理”和“医疗保健提供”等术语。我们的研究结果表明,具有唐氏综合征专业知识并接受过敏感诊断传递培训的医疗保健专业人员应参与首次谈话。唐氏综合征的产前诊断应亲自进行,或在事先通过电话安排时间进行。医生应提供有关与唐氏综合征相关的医疗状况的准确信息,并将父母与当地的唐氏综合征支持小组和其他资源联系起来。我们得出结论,医生可以以准父母能够欣赏的敏感方式提供唐氏综合征的产前诊断。