{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T10:50:52Z","timestamp":1792234252485,"version":"4.4.0"},"reference-count":60,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,9,3]],"date-time":"2022-09-03T00:00:00Z","timestamp":1662163200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32AI125222"],"award-info":[{"award-number":["T32AI125222"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (&gt;18\u00a0years old) affected by SMA. Multivariable ordinal logistic regression was used to analyze associations between respondent characteristics and attitudes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of 114 respondents (60% of whom were patients), only 2 were prenatally diagnosed. However, 91% supported prenatal testing and 81% felt there had been a delay in their diagnosis. Overall, 55% would enroll in a phase I trial for fetal antisense oligonucleotide (ASO) while 79% would choose an established fetal ASO\/small molecule therapy. Overall, 61% would enroll in fetal gene therapy trials and 87% would choose fetal gene therapies. Patients were less likely to enroll in a fetal gene therapy trial than parents enrolling a child (OR 0.31,<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.05). Older parental age and believing there had been excessive delay in diagnosis were associated with an interest in enrolling in a fetal ASO trial (OR 1.04, 7.38, respectively,<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.05).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In utero therapies are promising for severe genetic diseases. Patients with SMA and their parents view prenatal testing and therapies positively, with gene therapy being favored.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6228","type":"journal-article","created":{"date-parts":[[2022,8,27]],"date-time":"2022-08-27T10:02:33Z","timestamp":1661594553000},"page":"1409-1419","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9217-1840","authenticated-orcid":false,"given":"Marisa E.","family":"Schwab","sequence":"first","affiliation":[{"name":"Center for Maternal\u2010Fetal Precision Medicine University of California San Francisco San Francisco California USA"},{"name":"Department of Surgery University of California San Francisco San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirley","family":"Shao","sequence":"additional","affiliation":[{"name":"School of Medicine University of California San Francisco San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics University of California San Francisco San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Billie","family":"Lianoglou","sequence":"additional","affiliation":[{"name":"Center for Maternal\u2010Fetal Precision Medicine University of California San Francisco San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Belter","sequence":"additional","affiliation":[{"name":"Cure SMA Elk Grove Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Jarecki","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics University of California San Francisco San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Schroth","sequence":"additional","affiliation":[{"name":"Cure SMA Elk Grove Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte J.","family":"Sumner","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Neuroscience Johns Hopkins University School of Medicine Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tippi","family":"MacKenzie","sequence":"additional","affiliation":[{"name":"Center for Maternal\u2010Fetal Precision Medicine University of California San Francisco San Francisco California USA"},{"name":"Department of Surgery University of California San Francisco San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.002"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(08)60921\u20106"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3233\/jnd\u2010160177"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa146"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.abb6871"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2015.07.004"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24497"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3233\/jnd\u2010190424"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.2147\/tcrm.s172291"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001952"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e318188d069"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887\u2010021\u201002692\u20102"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1702752"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1706198"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25533"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3233\/jnd\u2010180315"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035\u2010017\u20100831\u20109"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2019.08.017"},{"key":"e_1_2_9_20_1","article-title":"Key Considerations for Developing & Integrating Patient Perspectives in Drug Development: Examination of the Duchenne Case Study","author":"Wkd S","year":"2016","journal-title":"Biotechnol Innovat Organ Parent Proj Muscular Dystrophy"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001477\u20107"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/17482631.2021.1904722"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40271\u2010020\u201000415\u2010w"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.01.012"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/1740774517751118"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen\u20102017\u2010020907"},{"key":"e_1_2_9_27_1","doi-asserted-by":"crossref","DOI":"10.1002\/9781394260645","volume-title":"Internet, Phone, Mail, and Mixed\u2010Mode Surveys: The Tailored Design Method","author":"Dillman DA","year":"2014"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.3233\/jnd\u2010200563"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7010020"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.23046"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883\u2010015\u20100473\u20103"},{"key":"e_1_2_9_32_1","unstructured":"Health HMaC.Newborn Screening for Spinal Muscular Atrophy: A Summary of the Evidence and Advisory Committee Decision.\u00a0March\u00a013 2018https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory\u2010committees\/heritable\u2010disorders\/rusp\/previous\u2010nominations\/sma\u2010consumer\u2010summary.pdf"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/hex.12602"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33474"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38031"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2021.100742"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001245\u20103"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001667\u20103"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001498\u20102"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph17238989"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u20101339\u20103"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.01.018"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883\u2010017\u20100853\u2010y"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.3233\/jnd\u2010190403"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.09.007"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa2009965"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1710504"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinthera.2019.03.012"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2009.07.009"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812450750"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1177\/1359104517731899"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1097\/pcc.0000000000000076"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.3233\/jnd\u2010180330"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010019\u20101052\u20102"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201001701\u2010y"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1006\/nbdi.1996.0010"},{"issue":"2","key":"e_1_2_9_58_1","first-page":"115","article-title":"How valid are responses to questions about behaviour in hypothetical illness situations?","volume":"13","author":"Usherwood TP","year":"1991","journal-title":"J Publ Health Med"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12879\u2010018\u20103252\u20100"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.147"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conctc.2018.07.002"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6228","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6228","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6228","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,2]],"date-time":"2024-10-02T18:02:50Z","timestamp":1727892170000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6228"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,3]]},"references-count":60,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1002\/pd.6228"],"URL":"https:\/\/doi.org\/10.1002\/pd.6228","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,3]]},"assertion":[{"value":"2022-05-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}