{"doi":"10.1002/pd.6228","title":"Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy","abstract":"OBJECTIVE: 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. METHODS: A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA. Multivariable ordinal logistic regression was used to analyze associations between respondent characteristics and attitudes. RESULTS: 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, p < 0.05). 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, p < 0.05). CONCLUSION: 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.","journal":"Prenatal Diagnosis","year":2022,"id":255658,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":20,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9557,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":497695,"name":"Shirley Shao","orcid":"0000-0003-0326-9083","position":1,"is_corresponding":false},{"id":3069,"name":"Li Zhang","orcid":"0000-0002-3617-2627","position":2,"is_corresponding":false},{"id":687735,"name":"Billie R. Lianoglou","orcid":"0000-0002-2661-6642","position":3,"is_corresponding":false},{"id":903872,"name":"Lisa Belter","orcid":"0000-0002-8348-1916","position":4,"is_corresponding":false},{"id":904477,"name":"Jill Jarecki","orcid":null,"position":5,"is_corresponding":false},{"id":903873,"name":"Mary Schroth","orcid":"0000-0002-1720-4849","position":6,"is_corresponding":false},{"id":307684,"name":"Charlotte J. Sumner","orcid":"0000-0001-5088-6012","position":7,"is_corresponding":false},{"id":322878,"name":"Tippi C. MacKenzie","orcid":"0000-0001-5232-809X","position":8,"is_corresponding":false},{"id":439911,"name":"Marisa E. Schwab","orcid":"0000-0001-9217-1840","position":0,"is_corresponding":true}],"reference_count":59,"raw_metadata":null,"created_at":"2026-07-19T00:25:17.224217Z","pmid":"36029101","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}