RT Journal Article
T1 More than a Diagnosis: How Prenatal Identification of Cantú Syndrome Transformed a Family’s Medical Narrative
A1 Narbona-Arias, Isidoro
A1 Blasco Alonso, Marta
A1 Monís-Rodríguez, Susana
A1 Gómez-Muñoz, Cristina
A1 González-Mesa, Ernesto Santiago
A1 Lubián López, Daniel María
A1 Jiménez-López, Jesús Salvador
K1 Obstetricia
K1 Enfermedades hereditarias
AB Cantú syndrome is a rare autosomal dominant genetic disordercaused by gain-of-function variants in the ABCC9 or KCNJ8 genes. Although its phenotypicexpression is variable and can go unnoticed postnatally, certain ultrasound findingsmay raise suspicion during pregnancy. This article presents a case of prenatal diagnosisthrough exome sequencing, which also enabled retrospective diagnosis in the mother anda previously undiagnosed child, highlighting the clinical and emotional value of diagnosticcertainty in fetal medicine. Methods: We conducted a descriptive observationalstudy based on a case identified at the Fetal Medicine Unit of the Regional UniversityHospital of Málaga. The patient underwent high-resolution ultrasound and trio-basedexome sequencing (fetus and both parents). Results: Prenatal exome sequencing revealeda heterozygous pathogenic variant in ABCC9, consistent with Cantú syndrome, identifiedsimultaneously in the fetus and the mother as part of a trio-based analysis, confirmingmaternal 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 agenetic diagnosis until this study. The prenatal diagnosis allowed for obstetric and neonatalplanning, genetic counselling, and a reinterpretation of the clinical and emotional meaningof previous pregnancies. Conclusions: Prenatal diagnosis of Cantú syndrome enablesanticipation of perinatal complications, planned clinical interventions, and also providesemotional relief and a coherent narrative for families. In scenarios of variable phenotypicexpressivity, fetal medicine may represent a gateway to family diagnosis, with significantclinical and psychosocial implications.
PB MDPI
SN 2077-0383
YR 2025
FD 2025-08-26
LK https://hdl.handle.net/10630/44697
UL https://hdl.handle.net/10630/44697
LA eng
NO 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
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 1 mar 2026