{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T10:33:23Z","timestamp":1752230003157,"version":"3.40.5"},"reference-count":10,"publisher":"American Academy of Pediatrics (AAP)","issue":"Supplement_1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,7,1]]},"abstract":"<jats:p>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\u2019s 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 \u201cNewborn Screening, Diagnosis, and Treatment for Pompe Disease\u201d 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.<\/jats:p>","DOI":"10.1542\/peds.2016-0280f","type":"journal-article","created":{"date-parts":[[2017,6,30]],"date-time":"2017-06-30T08:36:03Z","timestamp":1498811763000},"page":"S46-S50","source":"Crossref","is-referenced-by-count":5,"title":["The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening"],"prefix":"10.1542","volume":"140","author":[{"given":"Andrea M.","family":"Atherton","sequence":"first","affiliation":[{"name":"Children\u2019s Mercy Hospital, Kansas City, Missouri; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra","family":"Day-Salvatore","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, Saint Peter\u2019s University Hospital, New Brunswick, New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"on behalf of the Pompe Disease Newborn Screening Working Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2017,7,1]]},"reference":[{"issue":"5","key":"2021121007440429600_B1","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"Kishnani","year":"2006","journal-title":"Genet Med"},{"issue":"3","key":"2021121007440429600_B2","first-page":"179","article-title":"Genetic counseling in Pompe disease.","volume":"30","author":"Taglia","year":"2011","journal-title":"Acta Myol"},{"issue":"1","key":"2021121007440429600_B3","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1007\/s10897-013-9631-1","article-title":"Newborn screening: education, consent, and the residual blood spot. 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