{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:06:58Z","timestamp":1784293618139,"version":"3.55.0"},"reference-count":8,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T00:00:00Z","timestamp":1756166400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Cant\u00fa syndrome is a rare autosomal dominant genetic disorder caused by gain-of-function variants in the ABCC9 or KCNJ8 genes. Although its phenotypic expression is variable and can go unnoticed postnatally, certain ultrasound findings may raise suspicion during pregnancy. This article presents a case of prenatal diagnosis through exome sequencing, which also enabled retrospective diagnosis in the mother and a previously undiagnosed child, highlighting the clinical and emotional value of diagnostic certainty in fetal medicine. Methods: We conducted a descriptive observational study based on a case identified at the Fetal Medicine Unit of the Regional University Hospital of M\u00e1laga. The patient underwent high-resolution ultrasound and trio-based exome sequencing (fetus and both parents). Results: Prenatal exome sequencing revealed a heterozygous pathogenic variant in ABCC9, consistent with Cant\u00fa syndrome, identified simultaneously in the fetus and the mother as part of a trio-based analysis, confirming maternal inheritance. The same variant was later detected in the patient\u2019s older daughter, who had been under pediatric evaluation for a suggestive phenotype but had not received a genetic diagnosis until this study. The prenatal diagnosis allowed for obstetric and neonatal planning, genetic counselling, and a reinterpretation of the clinical and emotional meaning of previous pregnancies. Conclusions: Prenatal diagnosis of Cant\u00fa syndrome enables anticipation of perinatal complications, planned clinical interventions, and also provides emotional relief and a coherent narrative for families. In scenarios of variable phenotypic expressivity, fetal medicine may represent a gateway to family diagnosis, with significant clinical and psychosocial implications.<\/jats:p>","DOI":"10.3390\/jcm14176017","type":"journal-article","created":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T10:35:17Z","timestamp":1756204517000},"page":"6017","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["More than a Diagnosis: How Prenatal Identification of Cant\u00fa Syndrome Transformed a Family\u2019s Medical Narrative"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9148-9881","authenticated-orcid":false,"given":"Isidoro","family":"Narbona-Arias","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenue Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Fetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29071 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1199-5459","authenticated-orcid":false,"given":"Marta","family":"Blasco-Alonso","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenue Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Fetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29071 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-7866-4706","authenticated-orcid":false,"given":"Susana","family":"Mon\u00eds-Rodriguez","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenue Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Fetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29071 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina G\u00f3mez","family":"Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenue Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Fetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29071 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7106-092X","authenticated-orcid":false,"given":"Ernesto","family":"Gonz\u00e1lez-Mesa","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenue Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Fetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29071 M\u00e1laga, Spain"},{"name":"Department of Surgical Specialties, University of Malaga, 29010 Malaga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8861-1751","authenticated-orcid":false,"given":"Daniel Mar\u00eda","family":"Lubi\u00e1n-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of C\u00e1diz, 11003 C\u00e1diz, Spain"},{"name":"Department of Obstetrics and Gynecology, Viamed Bah\u00eda de C\u00e1diz Hospital, 11130 C\u00e1diz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7286-8656","authenticated-orcid":false,"given":"Jes\u00fas","family":"Jim\u00e9nez-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenue Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Fetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29071 M\u00e1laga, Spain"},{"name":"Department of Surgical Specialties, University of Malaga, 29010 Malaga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1002\/ajmg.c.31753","article-title":"Cant\u00fa syndrome: Findings from 74 patients in the International Cant\u00fa Syndrome Registry","volume":"181","author":"Grange","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/uog.28755","article-title":"EP18.19: Prenatal diagnosis of Cant\u00fa syndrome during the second trimester due to a novel ABCC9 pathogenic variant: A case report","volume":"64","author":"Vasta","year":"2024","journal-title":"Ultrasound Obs. Gynecol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1097\/MCD.0000000000000219","article-title":"Cant\u00fa syndrome, the changing phenotype: A report of the two oldest Dutch patients","volume":"27","author":"Roessler","year":"2018","journal-title":"Clin. Dysmorphol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/pd.6115","article-title":"Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis","volume":"42","author":"Mellis","year":"2022","journal-title":"Prenat Diagn."},{"key":"ref_5","first-page":"713","article-title":"Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort","volume":"23","author":"Talati","year":"2021","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1186\/s13023-021-02046-2","article-title":"Evaluation of the parents\u2019 anxiety levels before and after the diagnosis of their child with a rare genetic disease: The necessity of psychological support","volume":"16","author":"Kolemen","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1016\/j.ajhg.2012.04.014","article-title":"Cant\u00fa syndrome is caused by mutations in ABCC9","volume":"90","author":"Gilissen","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1038\/ng.2324","article-title":"Dominant missense mutations in ABCC9 cause Cant\u00fa syndrome","volume":"44","author":"Harakalova","year":"2012","journal-title":"Nat. Genet."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/17\/6017\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:32:52Z","timestamp":1760034772000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/17\/6017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,26]]},"references-count":8,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2025,9]]}},"alternative-id":["jcm14176017"],"URL":"https:\/\/doi.org\/10.3390\/jcm14176017","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,26]]}}}