Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!
Priya RanganathVineeth VsIkromi RungsungAshwin B DalalShagun AggarwalPublished in: Fetal and pediatric pathology (2022)
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.
Keyphrases
- pulmonary artery
- copy number
- early onset
- pulmonary hypertension
- coronary artery
- genome wide
- pulmonary arterial hypertension
- late onset
- mitral valve
- dna methylation
- aortic valve
- heart failure
- genome wide identification
- intellectual disability
- transcription factor
- single cell
- autism spectrum disorder
- left ventricular
- clinical evaluation