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 Rodriguez, Susana
A1 Gómez Muñoz, Cristina
A1 González Mesa, Ernesto
A1 Lubián López, Daniel María
A1 Jiménez López, Jesús
A2 Medicina
K1 prenatal diagnosis
K1 Cantú syndrome
K1 fetal medicine
K1 trio exome sequencing
K1 ABCC9 variants
K1 rare diseases
K1 variable expressivity
K1 genetic counseling
K1 perinatal mental health
AB Background/Objectives: 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 http://hdl.handle.net/10498/39026
UL http://hdl.handle.net/10498/39026
LA eng
DS Repositorio Institucional de la Universidad de Cádiz
RD 08-nov-2026