Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!. (2nd January 2023)

• Record Type: Journal Article
• Authors: Ranganath, Priya; VS, Vineeth; Rungsung, Ikromi; Dalal, Ashwin; Aggarwal, Shagun
• Is Part Of: Fetal and pediatric pathology. Volume 42:Number 1(2023)
• Page Start: 103
• Page End: 109
• Publication Date: 2023-01-02
• Subjects: PLD1 -- right heart developmental defect -- non-immune fetal hydrops -- exome sequencing -- fetal autopsy; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2022.2058660
• Languages: English
• ISSNs: 1551-3815

Abstract

Abstract: Background: : Non-immune fetal hydrops (NIFH) is an etiologically heterogeneous condition. Cardiac anomalies are one of the common causes of NIFH. Cardiac anomalies can be isolated, multifactorial malformations or have a genetic basis. PLD1 variants have been associated with developmental defects involving the right heart. We present a NIFH with a PLD1 associated right heart malformation. Case report: : We describe a spontaneously aborted 14 weeks old NIFH fetus with a rudimentary right ventricle, pulmonary valve atresia and pulmonary artery stenosis found at fetopsy. After a normal microarray, whole exome sequencing revealed a homozygous missense variant c.2023 C > T (p. Arg675Trp) in the PLD1 gene. Conclusion: Detailed fetopsy and genetic evaluation in this NIFH allowed an etiological explanation, further corroborated the association of PLD1 gene variants and developmental right heart defects, and that this defect can be associated with NIHF.