Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases.
Qiu-Xia YuLi ZhenDong-Zhi Li
Published in: Fetal diagnosis and therapy (2024)
The CHARGE syndrome presents non-specific abnormal ultrasound markers in utero. Exome sequencing in the genetic workup will aid in prenatal diagnosis of this syndrome.