Background: Aggressive angiomyxoma is a rare entity within mesenchymal cell neoplasms, especially in pregnant women. Its main characteristic is the ability to infiltrate neighboring structures and to recur. Case Presentation: We present the case of a pregnant woman who debuted with a genital prolapse in the second trimester of pregnancy. She was diagnosed with bilateral ovarian teratomas and a pelvic mass of which the diagnosis could not be established until delivery. The route of delivery used was cesarean section since the genital prolapse behaved as a previous tumor. After the puerperium, the patient was referred for consultation to complete the study of the mass. The extension study was carried out with a negative result. The patient underwent surgery for tumor exeresis. Hormonal treatment was not administered according to the patient’s preferences. Conclusions: Aggressive angiomyxoma is a benign neoplasm that should be considered in the differential diagnosis of pelvic tumors in women. In pregnant women, the vaginal route of delivery is not contraindicated as long as the tumor does not obstruct the birth canal. The definitive treatment is surgery, preferably performed in a second stage after delivery.

Succenturiate placenta is a rare anatomical variant characterized by one or more accessory lobes connected to the main placental mass by fetal vessels. While frequently asymptomatic, this condition can lead to serious maternal–fetal complications if not diagnosed prenatally. Early detection through advanced ultrasonographic techniques plays a critical role in guiding obstetric management and reducing adverse outcomes. Objective: To describe and analyze the prenatal diagnosis, sonographic characteristics, clinical management, and maternal–fetal outcomes of succenturiate placenta cases diagnosed over a ten-year period at a tertiary care center. Methods: We conducted a retrospective observational study of nine pregnancies diagnosed with succenturiate placenta between 2014 and 2024. Data collected included maternal demographics, ultrasound findings, type of cord insertion, presence of associated anomalies such as velamentous cord insertion or vasa previa, vaginal or cesarean delivery, complications, and neonatal outcomes. Ultrasound evaluation was scored based on a four-point checklist assessing key diagnostic steps. Results: Five of the nine cases (55.6%) presented isolated succenturiate placenta, while four (44.4%) were associated with velamentous cord insertion. No cases of vasa previa were identified. Obstetric outcomes included three vaginal deliveries (33.3%), two instrumental (22.2%), and four cesarean sections (44.4%), one of which was emergent due to fetal distress. Complications occurred in 44.4% of cases, with intrapartum bradycardia being the most common. One neonatal death was reported due to placental abruption. The quality of the ultrasound diagnosis was high in most cases, though transvaginal scanning was inconsistently applied. Conclusions: Prenatal identification of succenturiate placenta via detailed ultrasound, including color Doppler and targeted assessment of cord insertion, is essential to minimize risks associated with this condition. Standardized diagnostic protocols can improve detection rates and enable timely clinical decisions, ultimately improving maternal and neonatal outcomes.

Background/Objectives: 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.

Peters-Plus syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the B3GLCT gene and characterized by multisystem involvement. Fewer than 100 cases have been reported to date, and only a limited number have been diagnosed prenatally. Prenatal identification is challenging due to the variable and non-specific nature of fetal findings and the frequent absence of detectable ocular anomalies during routine ultrasound. We report a prenatal diagnosis of Peters-Plus syndrome in a monochorionic diamniotic twin pregnancy, based on the progressive identification of early-onset intrauterine growth restriction, rhizomelic limb shortening, craniofacial dysmorphism, and mild central nervous system abnormalities. Standard cytogenetic and chromosomal microarray analyses were normal, prompting extended genetic testing. Prenatal exome sequencing identified a homozygous pathogenic splice-site variant (c.660+1G>A) in B3GLCT in both fetuses, confirming the diagnosis. This case highlights the importance of recognizing suggestive multisystem prenatal findings and the crucial role of advanced genetic testing in achieving an accurate prenatal diagnosis. Early molecular confirmation enables appropriate parental counseling regarding prognosis, recurrence risk, and future reproductive options.

Peters-Plus syndrome is a rare autosomal recessive disorder characterized by multisystem involvement, with a primary manifestation in the anterior segment of the eye. The hallmark feature, Peters anomaly, presents as central corneal opacity with iridocorneal adhesions. Clinically, patients often exhibit the classic triad of anterior chamber defects, short stature, and brachydactyly, accompanied by craniofacial dysmorphisms such as cleft lip and/or palate, hypertelorism, and short palpebral fissures, as well as variable intellectual disability. Skeletal abnormalities include rhizomelic limb shortening, clinodactyly, and restricted growth, frequently responsive to growth hormone therapy. Additional manifestations may involve congenital heart defects, genitourinary anomalies, and endocrine disturbances such as hypothyroidism. Prenatal growth restriction is common, and structural brain anomalies can occasionally be present, though they do not consistently correlate with neurodevelopmental outcomes. Diagnosis is suspected based on characteristic clinical findings and confirmed through the identification of biallelic pathogenic variants in the B3GLCT gene. Genetic counseling is essential due to the autosomal recessive inheritance pattern. Management is individualized, including early corneal transplantation between 3–6 months to prevent amblyopia, treatment of glaucoma or cataracts, and multidisciplinary follow-up addressing ophthalmologic, endocrine, neurologic and developmental needs. Prognosis varies widely depending on the severity of ocular and systemic involvement. This overview underscores the importance of early recognition, genetic confirmation, and comprehensive, patient-centered care in optimizing outcomes for individuals with Peters-Plus syndrome.