2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-First Case of a <em>FBXW11</em>-Related Disorder Diagnosed via Prenatal Whole Exome Sequencing

Pdf Summary

A case study published by Lisa Pilchman, Beverly Coleman, and Julie Moldenhauer of The Children’s Hospital of Philadelphia describes the first instance of a prenatal diagnosis of a FBXW11-related disorder. The study focuses on a 41-year-old woman who presented at 17 weeks and 4 days gestation with a suspected fetal brain malformation. The ultrasound findings indicated dolichocephaly, absent corpus callosum, absent cavum septum pellucidum, and inferior vermian hypoplasia. Amniocentesis and cytogenetic testing were performed, which yielded normal results. As a result, prenatal whole exome sequencing (WES) was offered.<br /><br />The WES revealed a pathogenic variant in the FBXW11 gene, which is associated with various developmental anomalies. Delivery was performed at a tertiary care center due to the fetal imaging findings and genetic diagnosis. The neonate exhibited additional postnatal findings such as aplasia cutis congenita, choanal atresia, tethered spinal cord, laryngomalacia, and heterotaxy. These findings differed from previously reported cases.<br /><br />The study emphasizes the importance of WES as a powerful diagnostic tool for rare genetic diagnoses during pregnancy. It also provides prognostic information to expecting parents. The case contributes to the understanding of the prenatal phenotype associated with FBXW11-related disorders.<br /><br />The study includes tables presenting prenatal ultrasound findings and the result of the WES, as well as figures depicting the fetal brain malformation and genitourinary abnormalities observed. Overall, the study highlights the potential of prenatal whole exome sequencing in identifying and diagnosing rare genetic disorders.

Asset Subtitle

Presenting Author - Lisa Pilchman, MS LCGC; Co-Author - Beverly Coleman, MD, FACR; Co-Author - Julie Moldenhauer, MD, FACOG, FACMG;

Meta Tag

Chromosomal Abnormalities

Congenital Anomaly

Exome sequencing

Genetic Testing

NextGen Sequencing

Prenatal Diagnosis

Ultrasound

Co-Author Beverly Coleman, MD, FACR

Co-Author Julie Moldenhauer, MD, FACOG, FACMG

Presenting Author Lisa Pilchman, MS LCGC

Keywords

prenatal diagnosis

FBXW11-related disorder

fetal brain malformation

ultrasound findings

prenatal whole exome sequencing

pathogenic variant

developmental anomalies

genetic diagnosis

prognostic information

rare genetic disorders