Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing: A case report.

Background: Most cases of Apert syndrome (AS) are found after birth. Cases of AS diagnosed by ultrasound combined with magnetic resonance imaging (MRI) and whole exome sequencing (WES) during pregnancy are rare.

Methods: We present the case of a 34-year old female patient (gravida 2, para 1) whose fetus was diagnosed with AS during pregnancy. Fetal ultrasound performed at 30, 2/7 wk of pregnancy showed abnormalities. MRI and three-dimensional ultrasound performed at 31, 1/7 wk of pregnancy showed the possibility of AS. Chromosome examination and core family WES were conducted at 31, 5/7 wk of pregnancy. The results showed that FGFR2 in the fetus had a c.755C>G missense mutation in its nucleotide, and AS was confirmed.

Conclusions: This case highlights the importance of imaging examinations. Prenatal ultrasound combined with MRI can identify fetal morphological abnormalities accurately, which can be confirmed by WES.