Nonisolated diaphragmatic hernia in Simpson‐Golabi‐Behmel syndrome. (24th January 2018) - Chong, Karen
Abstract: Objective: Congenital diaphragmatic hernia (CDH) is associated with Simpson‐Golabi‐Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of nonisolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy, and family history in confirming this diagnosis. Method: Retrospective review of 3 cases of SGBS type I in a single tertiary care centre. Family history, fetal ultrasound, autopsy findings, and genetic testing for GPC3 was performed for each case. Results: Fetal ultrasound findings in the second trimester were CDH, omphalocele, increased nuchal fold, renal anomaly, and cleft lip and palate. Fetal autopsy confirmed the prenatal ultrasound findings and also showed dysmorphic facial features and premalignant lesions on renal and gonadal histology. Microarray and DNA analysis of the GPC3 gene confirmed the diagnosis of SGBS type I in each case. Conclusion: Nonisolated CDH in a male fetus suggests a diagnosis of SGBS type I. Fetal autopsy, pedigree analysis, and genetic testing for GPC3 are all essential to confirming the diagnosis. The histological findings of ovotestes and nephroblastomatosis indicate that cancer predisposition is established early in fetal life. Abstract : What's already known about this topic? Simpson‐Golabi‐Behmel syndrome (SGBS) type I is an X‐linked condition difficult to diagnose based on fetal ultrasound findings. Whole exome sequencing and microarray analysis have recently been used to aid prenatal diagnosis of single gene disorders. What does this study add? Family history and fetal autopsy can help target genetic testing for GPC3 . Cancer predisposition may be seen on fetal histopathology in SGBS type I.