The aim of the study was to explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. We conducted a 5-year, multicenter retrospective study and collected data on patients with craniosynostosis diagnosed in the perinatal period. Of 41 cases, 30 cases (73%) were syndromic craniosynostosis, eight cases (20%) were non-syndromic craniosynostosis and the other three cases (7%) were secondary craniosynostosis of chromosomal deletion syndromes. The prenatal ultrasound detection rate was 61%. Half of the cases of syndromic craniosynostosis detected during the perinatal period were Pfeiffer syndrome; there were also six cases of Apert syndrome, three cases of Crouzon syndrome and other rare form of syndromic craniosynostosis (Beare-Stevenson syndrome, Saethre-Chotzen syndrome, cranioectodermal dysplasia, and thanatophoric dysplasia). Abnormal shape of the skull was the most common finding leading to prenatal diagnosis of craniosynostosis. Abnormal head biometry, which was the second most frequent finding, was closely correlated with deformation of the cranial shape. Three cases presented with ventriculomegaly and exophthalmos but normal cranial shape and size. The overall survival rate of infants with syndromic craniosynostosis was 79%, while all of the infants with non-syndromic craniosynostosis survived. In conclusion, prenatal diagnosis of craniosynostosis is difficult, especially when dysmorphic change of the fetal cranium is not evident. Abnormal head biometry and ventriculomegaly could potentially be additional markers of fetal craniosynostosis and consequently increase the prenatal detection rate.
Keywords: cranial deformation; prenatal diagnosis; prognosis; screening; ventriculomegaly.
© 2018 Japanese Teratology Society.