{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T08:29:51Z","timestamp":1786350591650,"version":"build-2736575974"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2026-0013_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>This work aims to characterize the clinical manifestations and diagnostic challenges associated with pregnancies affected by congenital myotonic dystrophy through a detailed case report of an individual seen in our center and a comprehensive case series overview.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2026-0013_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A 33-year-old woman presented at 33\u00a0weeks-gestation with symptomatic severe polyhydramnios (AFI 55.2) and an otherwise uncomplicated prenatal course with no anomalies on ultrasound. She underwent amnioreduction, which initially revealed normal genetic testing results (46,XX karyotype and normal microarray). At 34\u00a0weeks, she underwent repeat cesarean delivery for new-onset non-immune hydrops fetalis. Because of the hydrops, severe hypotonia, and respiratory distress requiring intubation of the neonate, further genetic testing was performed and was positive for congenital myotonic dystrophy (1,880 CTG repeats in DMPK). This testing also indicated that the mother had &gt;200 repeats, consistent with myotonic dystrophy type\u00a01.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2026-0013_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Idiopathic polyhydramnios and non-immune hydrops fetalis, even in the absence of structural anomalies, should prompt consideration of neuromuscular conditions such as congenital myotonic dystrophy in the differential diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2026-0013","type":"journal-article","created":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T07:56:16Z","timestamp":1786348576000},"source":"Crossref","is-referenced-by-count":0,"title":["Prenatal manifestations and perinatal outcomes in congenital myotonic dystrophy: clinical patterns and diagnostic implications"],"prefix":"10.1515","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9027-1514","authenticated-orcid":false,"given":"Nawras","family":"Zayat","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology , Division of Maternal-Fetal Medicine, Montefiore Medical Center, Albert Einstein College of Medicine , Bronx , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tori","family":"Aspir","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology and Women\u2019s Health , Montefiore Medical Center, Albert Einstein College of Medicine , Bronx , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliane","family":"Shinder","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology and Women\u2019s Health , Montefiore Medical Center, Albert Einstein College of Medicine , Bronx , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology , Stony Brook University Hospital, Stony Brook University, Renaissance School of Medicine , Stony Brook , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Suskin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology , Division of Medical and Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine , Bronx , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameer","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology , Division of Maternal-Fetal Medicine, Montefiore Medical Center, Albert Einstein College of Medicine , Bronx , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Rabin-Havt","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology , Division of Medical and Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine , Bronx , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pe\u2019er","family":"Dar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology , Division of Maternal-Fetal Medicine, Montefiore Medical Center, Albert Einstein College of Medicine , Bronx , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgios","family":"Doulaveris","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology , Division of Maternal-Fetal Medicine, Montefiore Medical Center, Albert Einstein College of Medicine , Bronx , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,8,10]]},"reference":[{"key":"2026081007561056133_j_crpm-2026-0013_ref_001","doi-asserted-by":"crossref","unstructured":"Soltanzadeh, P. Myotonic dystrophies: a genetic overview. Genes 2022;13:367. https:\/\/doi.org\/10.3390\/genes13020367.","DOI":"10.3390\/genes13020367"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_002","doi-asserted-by":"crossref","unstructured":"Lanni, S, Pearson, CE. Molecular genetics of congenital myotonic dystrophy. Neurobiol Dis 2019;132:104533. https:\/\/doi.org\/10.1016\/j.nbd.2019.104533.","DOI":"10.1016\/j.nbd.2019.104533"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_003","doi-asserted-by":"crossref","unstructured":"Ho, G, Cardamone, M, Farrar, M. Congenital and childhood myotonic dystrophy: current aspects of disease and future directions. World J Clin Pediatr 2015;4:66\u201380. https:\/\/doi.org\/10.5409\/wjcp.v4.i4.66.","DOI":"10.5409\/wjcp.v4.i4.66"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_004","doi-asserted-by":"crossref","unstructured":"Zaki, M, Boyd, PA, Impey, L, Roberts, A, Chamberlain, P. Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. Ultrasound Obstet Gynecol 2007;29:284\u20138. https:\/\/doi.org\/10.1002\/uog.3859.","DOI":"10.1002\/uog.3859"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_005","doi-asserted-by":"crossref","unstructured":"Ismail, KM, Martin, WL, Ghosh, S, Whittle, MJ, Kilby, MD. Etiology and outcome of hydrops fetalis. J\u00a0Matern Fetal Med 2001;10:175\u201381. https:\/\/doi.org\/10.1080\/jmf.10.3.175.181-9.","DOI":"10.1080\/jmf.10.3.175.181-9"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_006","doi-asserted-by":"crossref","unstructured":"Afifi, AM, Bhatia, AR, Eyal, F. Hydrops fetalis associated with congenital\u00a0myotonic dystrophy. Am J Obstet Gynecol 1992;166:929\u201330. https:\/\/doi.org\/10.1016\/0002-9378(92)91365-h.","DOI":"10.1016\/0002-9378(92)91365-H"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_007","doi-asserted-by":"crossref","unstructured":"Strelcovien\u0117, Z, Machtejevien\u0117, E, Minkauskien\u0117, M, Traberg, R. Case report of congenital myotonic dystrophy with multiple prenatal\u00a0sonographic findings. Case Rep Perinat Med 2024;13:20230029. https:\/\/doi.org\/10.1515\/crpm-2023-0029.","DOI":"10.1515\/crpm-2023-0029"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_008","unstructured":"Pezzoli, F, Parigi, S, Moroni, M, Sacchini, M, Mancano, G, Zulli, A, et al.. Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report. Acta Biomed 2023;94:e2023097. https:\/\/doi.org\/10.23750\/abm.v94iS1.13822."},{"key":"2026081007561056133_j_crpm-2026-0013_ref_009","doi-asserted-by":"crossref","unstructured":"Shinar, S, Balakumar, P, Shah, V, Chong, K, Uster, T, Chitayat, D, et al.. Fetal macrocephaly: a novel sonographic finding in congenital myotonic dystrophy. Am J Perinatol Rep 2020;10:e294\u20139. https:\/\/doi.org\/10.1055\/s-0040-1716742.","DOI":"10.1055\/s-0040-1716742"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_010","unstructured":"Silva, CT, Madureira, C, Melo, C, Martins, C, Cardoso, R, Miguel, C, et al.. Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case. Nascer Crescer 2018;27:246\u20138."},{"key":"2026081007561056133_j_crpm-2026-0013_ref_011","doi-asserted-by":"crossref","unstructured":"Glassner, VO, Botvinik, A, Mory, A, Reches, A, Haratz, KK, Fleming, BM, et al.. Diagnostic value of exome sequencing in isolated polyhydramnios. Prenat Diagn 2026;46:771\u20139. https:\/\/doi.org\/10.1002\/pd.70030.","DOI":"10.1002\/pd.70030"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_012","doi-asserted-by":"crossref","unstructured":"Dashe, JS, Pressman, EK, Hibbard, JU. SMFM consult series #46: evaluation and management of polyhydramnios. Am J Obstet Gynecol 2018;219:B2\u20138. https:\/\/doi.org\/10.1016\/j.ajog.2018.07.016.","DOI":"10.1016\/j.ajog.2018.07.016"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_013","doi-asserted-by":"crossref","unstructured":"Rogers, R, Moyer, K, Moise, KJ. Congenital myotonic dystrophy: an overlooked diagnosis not amenable to detection by sequencing. Prenat Diagn 2022;42:233\u20135. https:\/\/doi.org\/10.1002\/pd.6105.","DOI":"10.1002\/pd.6105"},{"key":"2026081007561056133_j_crpm-2026-0013_ref_014","doi-asserted-by":"crossref","unstructured":"Kambara, M, Ibara, S. Chylothorax as a complication of congenital myotonic dystrophy: a retrospective cohort study. Early Hum Dev 2021;158:105396. https:\/\/doi.org\/10.1016\/j.earlhumdev.2021.105396.","DOI":"10.1016\/j.earlhumdev.2021.105396"}],"container-title":["Case Reports in Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2026-0013\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2026-0013\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T07:56:18Z","timestamp":1786348578000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2026-0013\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,1]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,8,10]]},"published-print":{"date-parts":[[2026,1,23]]}},"alternative-id":["10.1515\/crpm-2026-0013"],"URL":"https:\/\/doi.org\/10.1515\/crpm-2026-0013","relation":{},"ISSN":["2192-8959"],"issn-type":[{"value":"2192-8959","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,1]]},"article-number":"20260013"}}