The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening

遗传咨询 医学 疾病 新生儿筛查 基因检测 产前诊断 医疗保健 家庭医学 医学遗传学 儿科 怀孕 病理 遗传学 内科学 胎儿 经济增长 经济 基因 生物
作者
Andrea M. Atherton,Debra Day‐Salvatore
出处
期刊:Pediatrics [American Academy of Pediatrics]
卷期号:140 (Supplement_1): S46-S50 被引量:3
标识
DOI:10.1542/peds.2016-0280f
摘要

An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient’s health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease. Although the need for genetic counseling after a positive newborn screen for Pompe disease is recognized, the role that genetic counseling plays for both families of affected patients and health care teams is not fully understood. Consistent best genetic counseling practices also are lacking. The guidance in this article in the “Newborn Screening, Diagnosis, and Treatment for Pompe Disease” supplement is derived from expert consensus from the Pompe Disease Newborn Screening Working Group. It is intended to help guide genetic counseling efforts and provide a clear understanding of the role for families or carriers of Pompe disease identified through NBS; explain special considerations (eg, diagnosis of late-onset Pompe disease before the appearance of symptoms) and the impact and implications associated with a diagnosis (eg, determination of genetic risk and carrier status and preconception counseling); and provide health care teams caring for patients with a framework for a standardized approach to genetic counseling for patients and at-risk family members.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
Rr完成签到,获得积分20
刚刚
刚刚
刚刚
bkagyin应助神勇芷巧采纳,获得10
刚刚
CYY发布了新的文献求助10
1秒前
赶紧毕业发布了新的文献求助10
3秒前
4秒前
xujiamei发布了新的文献求助10
4秒前
科目三应助wangying采纳,获得30
4秒前
5秒前
爱听歌的白开水完成签到 ,获得积分20
5秒前
Akim应助Accepted采纳,获得10
5秒前
dellajj发布了新的文献求助10
6秒前
7秒前
8秒前
斯文败类应助n0rthstar采纳,获得10
9秒前
搜集达人应助甜美的成败采纳,获得10
10秒前
hopen发布了新的文献求助10
10秒前
10秒前
cx发布了新的文献求助10
11秒前
14秒前
15秒前
FYm完成签到,获得积分10
16秒前
织心完成签到,获得积分10
16秒前
cx完成签到,获得积分20
17秒前
善学以致用应助李大侠采纳,获得10
17秒前
聪明安筠完成签到,获得积分10
18秒前
20秒前
21秒前
hehe完成签到,获得积分10
21秒前
科研楠完成签到,获得积分10
22秒前
23秒前
23秒前
洛洛完成签到,获得积分10
23秒前
23秒前
buxiangshangxue完成签到 ,获得积分10
23秒前
23秒前
内向天宇完成签到,获得积分10
24秒前
25秒前
27秒前
高分求助中
【此为提示信息,请勿应助】请按要求发布求助,避免被关 20000
All the Birds of the World 4000
Production Logging: Theoretical and Interpretive Elements 3000
Musculoskeletal Pain - Market Insight, Epidemiology And Market Forecast - 2034 2000
Am Rande der Geschichte : mein Leben in China / Ruth Weiss 1500
CENTRAL BOOKS: A BRIEF HISTORY 1939 TO 1999 by Dave Cope 1000
Density Functional Theory: A Practical Introduction, 2nd Edition 840
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 物理 生物化学 纳米技术 计算机科学 化学工程 内科学 复合材料 物理化学 电极 遗传学 量子力学 基因 冶金 催化作用
热门帖子
关注 科研通微信公众号,转发送积分 3749268
求助须知:如何正确求助?哪些是违规求助? 3292508
关于积分的说明 10076921
捐赠科研通 3007951
什么是DOI,文献DOI怎么找? 1651910
邀请新用户注册赠送积分活动 786900
科研通“疑难数据库(出版商)”最低求助积分说明 751906