Plea for systematic prenatal genes panel testing when facing isolated craniosynostosis on fetal imaging

Area of Science:

• Medical Genetics
• Fetal Imaging
• Craniosynostosis

Background:

• Prenatal diagnosis of craniosynostosis is challenging, especially in Crouzon syndrome due to subtle fetal skull deformities.
• Syndromic craniosynostosis is often diagnosed when associated anomalies are present, making isolated cases difficult to detect.

Discussion:

• This case highlights a fetus with Crouzon syndrome presenting with isolated scaphocephaly on ultrasound.
• The specific FGFR2 gene variant (c.1646A>C in exon 14) was identified, linking the phenotype to the genotype.
• The observation underscores the potential for syndromic craniosynostosis to mimic isolated forms prenatally.

Key Insights:

• Syndromic craniosynostosis, like Crouzon syndrome, may present as isolated craniosynostosis on prenatal imaging.
• Systematic prenatal genetic panel testing is valuable even when craniosynostosis appears isolated.
• Early and accurate diagnosis through genetic testing aids in appropriate management and counseling.

Outlook:

• Further research into prenatal genetic screening for craniosynostosis is warranted.
• Integrating advanced imaging and genetic testing can improve diagnostic accuracy for fetal skull abnormalities.
• This approach can help differentiate syndromic from non-syndromic craniosynostosis, guiding clinical decisions.