Abstract

Introduction: Craniosynostosis, defined as the premature closure of one or multiple cranial sutures, has a variable genotype-phenotype association, comprising approximately 180 different syndromes. Reported cases of prenatal diagnosis are relatively rare and detection in the fetal period is difficult, although the incidence is three to five in 10,000 live births. Most cases of craniosynostosis are compatible with survival, although a high mortality rate is observed during the neonatal period in some conditions. Objective: To explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. Method: We conducted a 5-year, multicentre retrospective study and collected data on patients with craniosynostosis diagnosed in the perinatal period. Results: 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 head biometry was closely correlated with deformation of the cranial shape, which was the most frequently detected finding leading to prenatal diagnosis. 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. Conclusion: Prenatal diagnosis of craniosynostosis is difficult, especially when dysmorphic change of the fetal cranium is not evident. Abnormal head biometry and distortion of ventricles in shape could potentially be additional markers of fetal craniosynostosis and consequently increase the prenatal detection rate.

Keywords: Craniosynostosis; Prenatal diagnosis; Ventriculomegaly; Cranial deformation; Screening; Prognosis