Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods

Abstract

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.

Differential diagnosis of syndromic craniosynostosis: a case series

“…In accordance to the literature, in all our cases of Apert syndrome, syndactyly of upper and partly of the lower extremities were diagnosed by ultrasound (Table 1 and Fig. 1c) [17,19,20]. In one case of fetal Saethre Chotzen syndrome, syndactyly was diagnosed only postnatally.…”

“…In our case series, the diagnosis was suspected at the time of the second trimester screening in 9/13 patients and in 4/13 patients between 27 + 0 and 33 + 4 weeks of gestation. However, the diagnosis can be challenging as the extent of the skull deformity can vary and the standardized measurements of the head (biparietal diameter and head circumference) are not necessarily outside the normal range [17]. To confirm the diagnosis, it can be helpful to use a threedimensional ultrasonic skeletal imaging mode to image the Acrobrachycephaly, flat occiput, hypertelorism, flat forehead, midface hypoplasia, asymmetric cranial shape [24], turricephaly [5] Syndactyly, central nervous malformations (dysgenesis of corpus callosum, abnormal gyration) [5,24], neurological development disorders possible Crouzon syndrome Variable; often coronal and sagittal sutures [24] Acrobrachycephaly, (symmetric) midface hypoplasia, hypertelorism [24],…”

“…The basic biometric parameters may be out of range. Depending on the affected sutures the biparietal diameter (BPD) and the cephalic index (CI) can be raised or lower [17]. In our cohort, all cases with Apert syndrome exhibited an abnormal shape of the skull (Figs.…”

Sonographic indicators of isolated fetal sagittal craniosynostosis during pregnancy

“…Gray et al 27 found a wide variation in the normal cephalic index during pregnancy, as did Kurmanavicius et al 28 and Constantine et al 12 who both examined a large number of normal fetuses. This contributes to the explanation as to why craniosynostosis is rarely diagnosed in the second trimester, unless there are other abnormalities present 3,5,25,29 …”

Towards automated extraction of 2D standard fetal head planes from 3D ultrasound acquisitions: A clinical evaluation and quality assessment comparison

“…These two-dimensional (2D) planes allow identification of intracranial landmarks and acquisition of specific biometric measurements which, if absent or outside expected reference ranges, may be indicative of an anomaly. 2 Occasionally, it is not possible to obtain these planes, resulting in an incomplete or suboptimal assessment. 3 Advances in three-dimensional US (3D-US) and multi-planar reconstruction can complement conventional 2D-US and overcome some of its limitations.…”