Published online Feb 6, 2021. doi: 10.12998/wjcc.v9.i4.912
Peer-review started: September 18, 2020
First decision: November 23, 2020
Revised: December 6, 2020
Accepted: December 16, 2020
Article in press: December 16, 2020
Published online: February 6, 2021
Processing time: 121 Days and 4.6 Hours
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.
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.
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.
Core Tip: Apert syndrome (AS) during pregnancy is rare. We present a case of AS diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing in late pregnancy. Our case also shows that S252W mutation of AS is related to syndactyly and craniofacial dysplasia, and suggests that young paternal age is also related to AS. We reviewed the three-dimensional fetal ultrasound at 23, 5/7 wk of gestation and found some suspicious images such as craniosynostosis and raised forehead. This shows that improved awareness of AS and prenatal imaging are important.