{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T20:46:31Z","timestamp":1792183591632,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The American College of Obstetricians and Gynecologists (ACOG) recommends spinal muscular atrophy (SMA) carrier screening be offered preconception or prenatally. SMA linked\u2010variant incurs an increased but not absolute risk of being a carrier.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To describe the patient population, clinical recommendations, and follow\u2010up in a cohort with SMA linked\u2010variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study Design<\/jats:title>\n                    <jats:p>This is a retrospective cohort study performed at an urban, academic, tertiary care center of patients with the SMA linked\u2010variant approximately 2017\u20132021. Descriptive statistics characterize the patient population, provider recommendations, and patient follow\u2010up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>There were 856 patients, majority Black (94.2%), who tested positive for the SMA linked\u2010variant. There was documentation of result disclosure to patients in only 62.6% of cases. Genetic counseling (88.8%) and partner testing (62.5%) were most often offered. At least one suggested follow\u2010up was completed by 29.1% of patients, with 162 patients (30.2%) receiving genetic counseling and 61 (11.4%) undergoing partner testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Providers documented disclosure of SMA linked\u2010variant results in only 2\/3 of cases, and patients completed at least some of the offered clinical follow\u2010up in only 1\/3 of cases, both major gaps in care quality. Additional research is needed to understand and improve the suboptimal result review and low rates of patient follow\u2010up.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70276","type":"journal-article","created":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T20:04:26Z","timestamp":1792181066000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Provider Practice and Patient Clinical Follow\u2010Up Among\u00a0Patients With Spinal Muscular Atrophy (SMA) Linked\u2010Variant"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4433-7014","authenticated-orcid":false,"given":"Elizabeth","family":"Critchlow","sequence":"first","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5991-0381","authenticated-orcid":false,"given":"Whitney","family":"Bender","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9312-9024","authenticated-orcid":false,"given":"Melissa","family":"Riegel","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3638-036X","authenticated-orcid":false,"given":"Lorraine","family":"Dugoff","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,16]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33474"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.abb6871"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6228"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001952"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001203\u2010z"},{"key":"e_1_2_11_7_1","unstructured":"Spinal Muscular Atrophy Copy Number Analysis ARUP Consult (2024) 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