Narbona-Arias Isidoro, Blasco-Alonso Marta, Monís-Rodriguez Susana, Muñoz Cristina Gómez, González-Mesa Ernesto, Lubián-López Daniel María, Jiménez-López Jesús
Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenue Arroyo de los Angeles S/N, 29011 Malaga, Spain.
Research Group in Maternal-Fetal Medicine Epigenetics Women's Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29071 Málaga, Spain.
J Clin Med. 2025 Aug 26;14(17):6017. doi: 10.3390/jcm14176017.
Cantú syndrome is a rare autosomal dominant genetic disorder caused by gain-of-function variants in the or 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. 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). Prenatal exome sequencing revealed a heterozygous pathogenic variant in , 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. 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.
坎图综合征是一种罕见的常染色体显性遗传病，由 或 基因的功能获得性变异引起。尽管其表型表达具有变异性，出生后可能未被注意到，但某些超声检查结果在孕期可能会引起怀疑。本文介绍了一例通过外显子组测序进行产前诊断的病例，该方法还对母亲和一名先前未确诊的儿童进行了回顾性诊断，突出了胎儿医学中确诊的临床和情感价值。我们基于在马拉加地区大学医院胎儿医学科确诊的一例病例进行了描述性观察研究。该患者接受了高分辨率超声检查和基于三联体的外显子组测序（胎儿及父母双方）。产前外显子组测序在 中发现了一个杂合致病性变异，与坎图综合征一致，在基于三联体分析中同时在胎儿和母亲中被鉴定出来，证实了母系遗传。后来在患者的大女儿中也检测到了相同的变异，她因具有提示性表型一直在接受儿科评估，但直到本研究才得到基因诊断。产前诊断有助于进行产科和新生儿规划、遗传咨询，并重新诠释既往妊娠的临床和情感意义。坎图综合征的产前诊断能够预测围产期并发症、规划临床干预措施，还能为家庭提供情感慰藉和连贯的解释。在表型表达可变的情况下，胎儿医学可能是通向家庭诊断的途径，具有重大的临床和社会心理意义。
