The diagnostic potential of targeted imaging of the fetal pancreas

Objective To report our experience with targeted scans of the fetal pancreas. Methods Targeted scans were performed in 16 cases referred for anatomical or genetic conditions associated with structural pancreatic malformations. Results Four fetuses were evaluated for nephromegaly and macroglossia. In three of them, the pancreas circumference was >90th percentile. Genetic testing revealed Beckwith–Wiedemann syndrome. In the fourth case, the pancreas circumference was normal; exome sequencing revealed two heterozygous ETFDH gene mutations consistent with glutaric acidemia type II. In a case referred for non‐visualization of the gallbladder, the fetal pancreas was not visualized and genetic analysis revealed a mutation in the ONECUT1 gene encoding for HNF6. Targeted scan for heterotaxia revealed three cases with variable degrees of agenesis of the pancreas, one case with a normally structured right sided pancreas and one case with a normal pancreas. Cases referred following a genetic diagnosis included a case of maternal nesidioblastosis with an extremely large fetal pancreas; and five fetuses diagnosed with a TCF2 deletion all with a normal pancreas. Conclusions Prenatal assessment of the fetal pancreas may be a significant factor in prenatal diagnosis and counselling in cases presenting with anatomical and genetic conditions reported post‐natally to be associated with pancreatic structural and functional abnormalities. Key Points What's already known about this topic? Structural aberrations of the pancreas have been reported in association with several congenital malformations and genetic syndromes The prenatal literature regarding imaging of the fetal pancreas is scarce Sonographic imaging of the fetal pancreas is feasible What does this study add? Prenatal ultrasound may detect structural abnormalities of the fetal pancreas Prenatal evaluation of the fetal pancreas has the potential to provide a more accurate prenatal phenotype and affect genetic testing and risk assessment in a wide spectrum of prenatal scenarios