EP06.57: Prenatal diagnosis of fetal congenital hepatoblastoma: a case report

Hepatoblastoma, a childhood tumour, occurs in 1/1,000,000 newborns, with a 2:1 male predominance. Often diagnosed late in pregnancy, less than 4% are detected post-birth, affecting treatment and prognosis. Rarely identified in routine prenatal ultrasounds, we report a third trimester case. A 35-year-old with low-risk prenatal care was referred to our fetal medicine service at 37 weeks due to polyhydramnios and increased abdominal circumference found in an outside ultrasound. Our ultrasound identified a female fetus with moderate polyhydramnios (MVP 11 cm) and increased abdominal circumference, along with a vascular, well-defined heterogeneous mass in the right hepatic lobe measuring 5.6 x 3.8 x 5.6 cm. Initial hypotheses included hepatic hemangioma, hepatic hamartoma, and hepatoblastoma based on morphology. The newborn was delivered at 39 weeks with a birthweight of 3,700g. Liver function and hematological tests revealed only elevated alpha-fetoprotein levels (290,453 ng/ml). Computed tomography and liver biopsy confirmed the tumour in the right hepatic lobe, diagnosing fetal and embryonic epithelial-type hepatoblastoma. Right lobectomy was recommended by pediatric surgery, with excellent surgical recovery and normalisation of alpha-fetoprotein levels within 10 days post-surgery. Currently, the child is thriving at home, reaching all milestones, with a prognosis for near 100% survival and full recovery due to early diagnosis and treatment. This case highlights ultrasound's crucial role in timely diagnosis and management of complex fetal conditions, allowing early detection of a hepatic mass, leading to effective treatment and a positive outcome for the newborn. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Publication Details

Journal
Ultrasound in Obstetrics and Gynecology
Published
2024-09-01
DOI
https://doi.org/10.1002/uog.28229
Primary Topic
Epigenetics and DNA Methylation
Type
article
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article

EP06.57: Prenatal diagnosis of fetal congenital hepatoblastoma: a case report

L.J. Souza, A.C. Noldin, Gabrielle PEDRONI, S. Medeiros Duarte et al.
Ultrasound in Obstetrics and Gynecology
Epigenetics and DNA Methylation
article

EP06.57: Prenatal diagnosis of fetal congenital hepatoblastoma: a case report

L.J. Souza, A.C. Noldin, Gabrielle PEDRONI, S. Medeiros Duarte, D.J. Souza, A.F. Silva Francisco de Souza
article en

Abstract

Hepatoblastoma, a childhood tumour, occurs in 1/1,000,000 newborns, with a 2:1 male predominance. Often diagnosed late in pregnancy, less than 4% are detected post-birth, affecting treatment and prognosis. Rarely identified in routine prenatal ultrasounds, we report a third trimester case. A 35-year-old with low-risk prenatal care was referred to our fetal medicine service at 37 weeks due to polyhydramnios and increased abdominal circumference found in an outside ultrasound. Our ultrasound identified a female fetus with moderate polyhydramnios (MVP 11 cm) and increased abdominal circumference, along with a vascular, well-defined heterogeneous mass in the right hepatic lobe measuring 5.6 x 3.8 x 5.6 cm. Initial hypotheses included hepatic hemangioma, hepatic hamartoma, and hepatoblastoma based on morphology. The newborn was delivered at 39 weeks with a birthweight of 3,700g. Liver function and hematological tests revealed only elevated alpha-fetoprotein levels (290,453 ng/ml). Computed tomography and liver biopsy confirmed the tumour in the right hepatic lobe, diagnosing fetal and embryonic epithelial-type hepatoblastoma. Right lobectomy was recommended by pediatric surgery, with excellent surgical recovery and normalisation of alpha-fetoprotein levels within 10 days post-surgery. Currently, the child is thriving at home, reaching all milestones, with a prognosis for near 100% survival and full recovery due to early diagnosis and treatment. This case highlights ultrasound's crucial role in timely diagnosis and management of complex fetal conditions, allowing early detection of a hepatic mass, leading to effective treatment and a positive outcome for the newborn. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Ultrasound in Obstetrics and GynecologyVol. 64(S1)
Centro Universitário de Brusque (BR)
Openalex Percentile: Top 87%
Epigenetics and DNA Methylation
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