Prenatal Diagnosis of Fetuses with 4q35 Deletion: Case Series and Review of the Literature

Abstract

Introduction：4q35 deletion is a rare chromosomal syndrome with a wide range of phenotypes, which can be challenging to detect through prenatal ultrasound. This study aims to summarize the fetal phenotypes of patients with 4q35 deletion to provide a reference for prenatal diagnosis of related diseases. Case Presentation: The study included four fetuses with 4q35 deletion, with detailed records of prenatal ultrasound and genetic testing results. These cases included following phenotypes, small for gestational age (SGA) (2/4), cystic hygroma (2/4), single umbilical artery (1/4) and fused kidney (1/4). One case was terminated, while the other three were born and showed no obvious abnormalities at the one-year follow-up. Previous reports have described the fetal phenotype of 4q35 deletion in six patients from five families, with prenatal phenotypes including SGA (2/6), cardiac structural abnormalities (1/6), brain ventriculomegaly (1/6), oligohydramnios (1/6), and multicystic dysplastic kidneys (1/6). Conclusion: Overall, the phenotypes of fetuses with 4q35 deletion are diverse, with SGA potentially being a significant phenotype in these cases.