The diagnostic potential of targeted imaging of the fetal pancreas

Abstract

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 PointsWhat'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 828 -Prenatal Diagnosis.

Potential prognostic value of hsa-miR-18a in hepatocellular carcinoma and the underlying key down-stream gene CHRM2: a comprehensive bioinformatic analysis*

“…Visualization was conducted in R. The gene expression matrix, enrichment plots and differential expression boxplot were depicted by "ggplot2" R package [22]. The venn diagram was drawn with "VennDiagram" R package [23].…”

Improving the prenatal diagnosis of Beckwith–Wiedemann syndrome

“…Other findings such as characteristics of the omphaloceles themselves (smaller, containing bowel only), large placenta, and specific organomegalies should also raise suspicion for BWS and trigger genetic counseling and targeted molecular testing. 2 Four reports in this issue, [3][4][5][6] BWS can be caused by different molecular mechanisms 2,7 and the contributions of each are mostly derived from postnatal or combined postnatal and prenatal testing data. Those showed that the most common cause is loss of methylation of imprinting control region 2 (IC2) on the maternally inherited chromosome in 50%, uniparental paternal disomy of chromosome 11 in 20% which can be mosaic, gain of methylation of imprinting control region 1 (IC1) on the maternally inherited chromosome in 5%, or heterozygous deletions of 11p15.5 in about 2%.…”

“…Gilboa et al 4 pay particular attention to measurements of the circumference of the fetal pancreas. In four cases referred for nephromegaly and macroglossia, that also had elevated human chorionic gonadotropin on maternal serum screen, the three with an enlarged pancreas were confirmed to have BWS while the fourth, with a normally sized pancreas, was diagnosed with a different condition.…”

“…Other findings such as characteristics of the omphaloceles themselves (smaller, containing bowel only), large placenta, and specific organomegalies should also raise suspicion for BWS and trigger genetic counseling and targeted molecular testing 2 . Four reports in this issue, 3–6 complemented by a review on omphaloceles in the “What To Tell Prospective Parents” series, 1 add new informative data on several aspects of the prenatal diagnosis of BWS, including what features are more commonly seen and what the expected yields are of recommended diagnostic strategies.…”

“…While organomegaly of kidneys, liver, and placenta are usually focused on by ultrasound, other organs are also enlarged in BWS. Gilboa et al 4 . pay particular attention to measurements of the circumference of the fetal pancreas.…”