Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed 
prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 
gene. We report here a de novo prenatal case with clinically and molecularly 
well defined Saethre-Chotzen syndrome due to a TWIST1 deletion. This is the 
first reported case of a deletion encompassing the TWIST1 gene to be diagnosed 
prenatally. We recommend screening for a deletion of the TWIST1 gene if signs of 
coronal craniosynostosis with no clear etiology are observed on ultrasound 
examination.