新生儿筛查发现镰状细胞特质时与父母分享的遗传信息。

IF 1.3 Q3 PEDIATRICS
International Journal of Pediatrics Pub Date : 2024-02-22 eCollection Date: 2024-01-01 DOI:10.1155/2024/8910397
Narcisse Elenga
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引用次数: 0

摘要

新生儿镰状细胞病筛查的主要目的是在症状出现之前诊断出疾病并开始早期治疗。为了回答 "当新生儿筛查发现镰状细胞性状时,需要向父母传达哪些遗传信息 "这一问题,我们使用自制的在线问卷进行了一项调查。我们收到了法国和法国海外省 122 名医护人员和镰状细胞病协会成员的回复。我们的结果表明,人们对这一问题的立场大同小异。所传达的信息并不一致,而且是基层倡议的结果。如果由一个多学科团队在专门咨询的框架内提供这些信息,就能减少这些信息带来的负面影响。至少应在三个关键时期提供有关镰状细胞性状的信息:新生儿期、青春期早期和青春期晚期,因为此时生殖影响变得非常重要。新生儿筛查项目应开发相关系统,使转诊医生能以电子方式轻松获取新生儿筛查结果。统一做法应有助于更好地分析这种咨询对家庭项目的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Information to Share with Parents when Newborn Screening Reveals the Presence of Sickle Cell Trait.

The primary purpose of newborn screening for sickle cell disease is to diagnose the disease before the appearance of symptoms and to initiate early treatment. To answer the question "What genetic information needs to be communicated to parents when newborn screening reveals the presence of a sickle cell trait," we conducted a survey using a self-administered online questionnaire. We received responses from 122 healthcare workers and members of sickle cell disease associations, in France and French overseas departments. Our results showed similar positions on this issue. The information conveyed is not consistent and is the result of grassroots initiatives. The negative consequences generated by this information could be reduced when this information is delivered by a multidisciplinary team, within the framework of a dedicated consultation. This information on sickle cell trait status should be given in at least three key periods: the neonatal period, early adolescence, and later adolescence, when reproductive implications become important. Neonatal screening programs should develop systems that allow referring physicians to easily access the results of neonatal screening electronically. Harmonization of practices should allow a better analysis of the consequences of this counselling on family projects.

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来源期刊
CiteScore
3.90
自引率
0.00%
发文量
0
审稿时长
4 weeks
期刊介绍: International Journal of Pediatrics is a peer-reviewed, open access journal that publishes original researcharticles, review articles, and clinical studies in all areas of pediatric research. The journal accepts submissions presented as an original article, short communication, case report, review article, systematic review, or letter to the editor.
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