2026-05-27T04:42:20Zhttps://riuma.uma.es/rest/oai/request

oai:riuma.uma.es:10630/446972026-02-03T11:04:02Zcom_10630_2254col_10630_37953

00925njm 22002777a 4500 dc Narbona-Arias, Isidoro author Blasco Alonso, Marta author Monís-Rodríguez, Susana author Gómez-Muñoz, Cristina author González-Mesa, Ernesto Santiago author Lubián López, Daniel María author Jiménez-López, Jesús Salvador author 2025-08-26 Cantú 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 Málaga. 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 Cantú 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’s 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 Cantú 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. Narbona-Arias I, Blasco-Alonso M, Monís-Rodriguez S, Muñoz CG, González-Mesa E, Lubián-López DM, Jiménez-López J. More than a Diagnosis: How Prenatal Identification of Cantú Syndrome Transformed a Family’s Medical Narrative. Journal of Clinical Medicine. 2025; 14(17):6017. https://doi.org/10.3390/jcm14176017 2077-0383 https://hdl.handle.net/10630/44697 10.3390/jcm14176017 Obstetricia Enfermedades hereditarias More than a Diagnosis: How Prenatal Identification of Cantú Syndrome Transformed a Family’s Medical Narrative