Prenatal Ultrasonographic and Molecular Diagnosis of Apert Syndrome: A case report / 대한산부인과학회지

ABSTRACT

Apert Syndrome is a kind of developmental disorder characterized by the craniosynostosis by synostosis of the coronal suture, bilateral symmetric syndactyly of the limbs (mitten-like hands and feet), midfacial hypoplasia, and variable degree of mental retardation. In 1894, Wheaton did the first description, and in 1906, it was named by Apert. Apert Syndrome is a rare autosomal dominent disorder and the prevalance at birth is estimated from 1100000 to 160000. This syndrome is developed by the result of a mutation in the fibroblast growth factor receptor 2 gene (FGFR 2) located at 10q25.3-26. In familial cases, diagnosis in the first trimester sometimes has been made. But In sporadic cases, mostly it has been diagnosed in the second or third trimester by ultrasonography. In Korea, Apert syndrome is so rare, and it has not yet been reported that Apert syndrome is defined by prenatal molecular diagnosis with ultrasonographic detection. We present a case of prenatal molecular definitive diagnosis of Apert syndrome suspected strongly by ultrasonographic finding with a brief review of literature. Mother of affected fetus was transferred to our hospital at 31(2) weeks' gestation due to abnormal fetal ultrasound finding of severe polyhydroamnios and bilateral syndactyly of hands detected at 26(3) weeks' gestation. We suspected Apert syndrome by fetal ultrasonographic finding, and then confirmed Apert syndrome by DNA analysis of fetal amniocyte from therapeutic amnioredution at 31(4) weeks' gestation.