Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester: a case report

Abstract Background: Craniosynostosis is one of the symptoms of Apert syndrome which is largely attributed to the disruptions of the fibroblast growth factor receptor 2 (FGFR2) gene. The prenatal diagnosis of Apert syndrome typically depends on the ultrasound imaging at the late pregnancy, which is unfavorable for the early diagnosis. Case presentation: In this pedigree, craniosynostosis, oligohydramnios and syndactyly of hands and feet were observed at the 20th week of gestation. Whole-exome sequencing followed by Sanger sequencing was performed on the affected fetus. A de novo FGFR2 mutation was identified which was classified pathogenic. Apert syndrome was diagnosed on the basis of fetal ultrasound imaging and whole-exome sequencing as early as the 20th week of gestation. Conclusions: The combination of ultrasound scans and Whole-exome sequencing made it available to diagnose Apert syndrome at the second trimester.