P859: A fetus with Diamond-Blackfan anemia and HLHS: Expanding the cardiac phenotype

Conclusion: This case highlights the importance of prenatal genetic testing and ultrasound screening of DNAH9 variant.The prenatal findings also contributes to the knowledge of ultrasonographic markers associated with pathogenic DNAH9 variant.As 3D ultrasonography advances, prenatal ultrasonographic markers and genetic testing may enable earlier detection and diagnosis, potentially improving genetic counseling, targeted testing, and shared decision-making with patients.Introduction: DNAH9 gene plays an important role in the development and function of cilia, the hair-like structures on many cell surfaces in the body.The pathogenic variant of DNAH9 gene has been associated with primary ciliary dyskinesia (PCD), laterality defects, and congenital heart disease.There is limited information about prenatal and ultrasonographic findings associated with pathogenic variant of DNAH9 gene.In addition, an incidental finding in this case was RPGRIP1L, a variant of uncertain significance (VUS), currently thought to be a gene modifier.In this case, we highlight the need for further understanding of RPGRIP1L variant and pathogenic variant of DNAH9 in prenatal screening, ultrasound markers, and diagnosis.Case Presentation: A.R.R is a 32-year-old Gravida 1 at 20 weeks and 4 days gestation who presented with fetal findings of complex fetal cardiac defects and heterotaxy syndrome with dextrocardia on prenatal ultrasound.The findings included atretic tricuspid and pulmonary valves and parallel outflow tracts from the morphologically right ventricle, suggesting transposition of the great arteries with a large atrioventricular septal defect.