Skotko Brian G, Capone George T, Kishnani Priya S
Division of Genetics, Department of Medicine, Children's Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA.
Pediatrics. 2009 Oct;124(4):e751-8. doi: 10.1542/peds.2009-0480. Epub 2009 Sep 28.
Many parents of children with Down syndrome (DS) have expressed dissatisfaction with how they learned about their child's diagnosis. DS remains the most common chromosomal condition, occurring in 1 of every 733 births, with the majority of children still diagnosed postnatally.
Our goal was to review systematically all available evidence regarding how physicians should approach the conversation in which they explain DS for the first time to new parents.
We searched online databases from 1960 to 2008, including Medline and PsychInfo, as well as Web sites maintained by academic organizations (eg, American Academy of Pediatrics) and other nonprofit or private organizations (eg, the National Down Syndrome Society), by using the terms "Down syndrome," "trisomy 21," "mongolism," "prenatal diagnosis," "postnatal care," and "delivery of health care." Articles were selected that answered > or =1 research question, established a priori: (1) Who is the best person to communicate the news? (2) When is the best time to share the news? (3) Where is the best place or setting to deliver the news? (4) What information should be delivered? and (5) How should the news be communicated? All studies were evaluated for quality according to the method outlined by the US Preventative Services Task Force. Final recommendations were based on the strength of evidence.
Parents prefer to receive the diagnosis together in a joint meeting with their obstetrician and pediatrician. The conversation should take place in a private setting as soon as a physician suspects a diagnosis of DS. Accurate and up-to-date information should be conveyed, including information about local support groups and resources.
By implementing a few cost-neutral measures, physicians can deliver a postnatal diagnosis of DS in a manner that will be deemed by new parents as sensitive and appropriate.
许多唐氏综合征（DS）患儿的家长对他们得知孩子诊断结果的方式表示不满。DS仍然是最常见的染色体疾病，每733例出生中就有1例发生，大多数患儿仍在出生后被诊断出来。
我们的目标是系统回顾所有关于医生首次向新父母解释DS时应如何进行谈话的现有证据。
我们使用“唐氏综合征”“21三体综合征”“先天愚型”“产前诊断”“产后护理”和“医疗服务提供”等术语，搜索了1960年至2008年的在线数据库，包括医学期刊数据库（Medline）和心理学文摘数据库（PsychInfo），以及学术组织（如美国儿科学会）和其他非营利或私人组织（如美国国家唐氏综合征协会）维护的网站。选择回答了≥1个预先设定的研究问题的文章：（1）谁是传达消息的最佳人选？（2）何时是分享消息的最佳时机？（3）在何处或何种环境下传达消息最佳？（4）应传达哪些信息？（5）应如何传达消息？根据美国预防服务工作组概述的方法对所有研究进行质量评估。最终建议基于证据的强度。
父母更倾向于在与产科医生和儿科医生的联合会议上一起接受诊断结果。一旦医生怀疑患儿患有DS，谈话应在私密环境中进行。应传达准确和最新的信息，包括有关当地支持小组和资源的信息。
通过实施一些不增加成本的措施，医生可以以一种新父母认为敏感且恰当的方式进行DS的产后诊断。
