{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T19:32:24Z","timestamp":1764963144020,"version":"3.46.0"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"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":[[2023,1,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2022-0026_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Amniotic fluid is essential for proper fetal development. In the case of severe polyhydramnios associated with low fetal growth, a number of different underlying disorders must be considered. One such condition is congenital central hypoventilation syndrome (CCHS) or Ondine\u2019s curse, a rare genetic disease caused by mutation of the PHOX2B gene. The incidence of CCHS is estimated to be 1 case in 200,000 live births. No publications have been made to date on the intrauterine period findings. This precludes an early intrauterine diagnosis and impedes ethically responsible therapeutic options.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2022-0026_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 37-year-old patient presented in her second pregnancy with a small for gestation fetus and severe polyhydramnios evidenced in the third trimester ultrasound (US) study. There were no previous signs of maternal diabetes or fetal abnormalities at US. During the immediate postpartum period, the newborn presented repeated apneas with cyanosis and hypo-responsiveness. Neonatal arterial blood gas testing revealed severe respiratory acidosis requiring orotracheal intubation and admission to the Neonatal Intensive Care Unit. Over the following days, all imaging and functional test findings were within normal ranges. A\n                      <jats:italic>de novo<\/jats:italic>\n                      pathogenic PHOX2B variant was identified.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2022-0026_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Despite a high mortality rate, no neurological sequelae or other systemic diseases were recorded, thanks to multidisciplinary and coordinated follow-up.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2022-0026","type":"journal-article","created":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T13:50:34Z","timestamp":1682689834000},"source":"Crossref","is-referenced-by-count":1,"title":["Staying alert with polyhydramnios; an Ondine syndrome case"],"prefix":"10.1515","volume":"12","author":[{"given":"Maria","family":"Pellis\u00e9-Tintor\u00e9","sequence":"first","affiliation":[{"name":"Department of Obstetrics, Gynaecology and Reproduction , Dexeus Universitary Hospital , Barcelona , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Lucia","family":"Paltrinieri","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Pediatrics , Dexeus Universitary Hospital , Barcelona , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Abul\u00ed","sequence":"additional","affiliation":[{"name":"Unit of Medical Genomics, Department of Obstetrics, Gynaecology and Reproduction , Dexeus Universitary Hospital , Barcelona , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Murillo","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynaecology and Reproduction , Dexeus Universitary Hospital , Barcelona , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariana","family":"Serrano","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynaecology and Reproduction , Dexeus Universitary Hospital , Barcelona , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerard","family":"Albaig\u00e9s","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynaecology and Reproduction , Dexeus Universitary Hospital , Barcelona , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,4,27]]},"reference":[{"key":"2025120518324161884_j_crpm-2022-0026_ref_001","unstructured":"Michael, G, Ross, MHB. Physiology of amniotic fluid volume regulation\u00a0\u2013 UpToDate; 2019, vol 14. https:\/\/www.uptodate.com\/contents\/physiology-of-amniotic-fluid-volume-regulation?csi=eb983077-eb41-4aa4-83c0-640125415a22&source=contentShare [Accessed 6 Feb\u00a02020]."},{"key":"2025120518324161884_j_crpm-2022-0026_ref_002","doi-asserted-by":"crossref","unstructured":"Dubil, EA, Magann, EF. Amniotic fluid as a vital sign for fetal wellbeing. Australas J Ultrasound Med 2013;16:62\u201370.","DOI":"10.1002\/j.2205-0140.2013.tb00167.x"},{"key":"2025120518324161884_j_crpm-2022-0026_ref_004","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":"2025120518324161884_j_crpm-2022-0026_ref_003","doi-asserted-by":"crossref","unstructured":"Sandlin, AT, Chauhan, SP, Magann, EF. Clinical relevance of sonographically estimated amniotic fluid volume: polyhydramnios. J\u00a0Ultrasound Med 2013;32:851\u201363.","DOI":"10.7863\/jum.2013.32.5.851"},{"key":"2025120518324161884_j_crpm-2022-0026_ref_005","doi-asserted-by":"crossref","unstructured":"Magann, EF, Chauhan, SP, Doherty, DA, Lutgendorf, MA, Magann, MI, Morrison, JC. A review of idiopathic hydramnios and pregnancy outcomes. Obstet Gynecol Surv 2007;62:795\u2013802. https:\/\/doi.org\/10.1097\/01.ogx.0000290349.58707.e0.","DOI":"10.1097\/01.ogx.0000290349.58707.e0"},{"key":"2025120518324161884_j_crpm-2022-0026_ref_006","doi-asserted-by":"crossref","unstructured":"Pri-Paz, S, Khalek, N, Fuchs, KM, Simpson, LL. Maximal amniotic\u00a0fluid\u00a0index as a prognostic factor in pregnancies complicated by polyhydramnios. Ultrasound Obstet Gynecol 2012;39:648\u201353. https:\/\/doi.org\/10.1002\/uog.10093.","DOI":"10.1002\/uog.10093"},{"key":"2025120518324161884_j_crpm-2022-0026_ref_008","doi-asserted-by":"crossref","unstructured":"Trang, H, Dehan, M, Beaufils, F, Zaccana, I, Amiel, J, Gaultier, C. The French congenital central hypoventilation syndrome registry: general data, phenotype, and genotype; 2005, vol 127:72\u20139 pp. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15653965 [Accessed 26 Mar 2020].","DOI":"10.1378\/chest.127.1.72"},{"key":"2025120518324161884_j_crpm-2022-0026_ref_009","doi-asserted-by":"crossref","unstructured":"Bardanzellu, F, Pintus, MC, Fanos, V, Marcialis, MA. Neonatal congenital central hypoventilation syndrome: why we should not sleep on it. Literature review of forty-two neonatal onset cases. Curr Pediatr Rev 2019;15:139\u201353. https:\/\/doi.org\/10.2174\/1573396315666190621103954.","DOI":"10.2174\/1573396315666190621103954"},{"key":"2025120518324161884_j_crpm-2022-0026_ref_010","doi-asserted-by":"crossref","unstructured":"Ljubi\u010d, K, Fister, IJr, Fister, I. Congenital central hypoventilation syndrome: a comprehensive review and future challenges. J Respir Med 2014;2014:1\u20138.","DOI":"10.1155\/2014\/856149"},{"key":"2025120518324161884_j_crpm-2022-0026_ref_011","doi-asserted-by":"crossref","unstructured":"Pilliod, RA, Page, JM, Burwick, RM, Kaimal, AJ, Cheng, YW, Caughey, AB. The risk of fetal death in nonanomalous pregnancies affected by polyhydramnios. Am J Obstet Gynecol 2015;213:410.e1\u20136. https:\/\/doi.org\/10.1016\/j.ajog.2015.05.022.","DOI":"10.1016\/j.ajog.2015.05.022"},{"key":"2025120518324161884_j_crpm-2022-0026_ref_012","doi-asserted-by":"crossref","unstructured":"Mangels, R, Blumenfeld, YJ, Homeyer, M, Mrazek-Pugh, B, Hintz, SR, Hudgins, L. 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