Prenatal Diagnosis of Craniosynostosis Using Ultrasound

Abstract

Background: Craniosynostosis is typically diagnosed postnatally. Prenatal diagnosis would allow for improved parental counseling and facilitate timely intervention. Our purpose was to determine whether prenatal ultrasound can be used to diagnose nonsyndromic craniosynostosis. Methods: The authors reviewed 22 prenatal ultrasounds of infants known to have nonsyndromic craniosynostosis and 22 age-matched controls. Cross-sectional images at the plane used to measure biparietal diameter were selected and cranial shape of each participant was parameterized and used to discriminate affected patients from controls. The results from quantitative shape analysis were compared with results from a blinded visual inspection alone. Results: Among the 22 patients, the most common diagnosis was sagittal synostosis (n = 11), followed by metopic synostosis (n = 6). The average gestational age at time of ultrasound of controls and synostotic patients was 26 weeks and 6.8 days at the junction of the second and third trimesters. The controls and synostotic cases segregated into statistically different populations by their shape profiles (p < 0.001). An automatic shape classifier using leave-one-out cross-validation correctly classified the 44 images as normal versus synostotic 85 percent of the time (sensitivity, 82 percent; specificity, 87 percent). Cephalic index was a poor indicator of sagittal synostosis (45 percent sensitivity). Visual inspection alone demonstrated only a fair level of accuracy (40 to 50 percent agreement) in identifying cases of synostosis (kappa, 0.09 to 0.23). Conclusions: Craniosynostosis can be identified on prenatal ultrasound with good sensitivity using formal shape analysis. Cephalic index and visual inspection alone performed poorly. CLINICAL QUESTION/LEVEL OF EVIDENCE: Diagnostic, II.

Incorporation of a biparietal narrowing metric to improve the ability of machine learning models to detect sagittal craniosynostosis with 2D photographs

“…Other investigators have described the use of CI alone as a subpar indicator of sagittal craniosynostosis when using ultrasound to diagnose the deformity prenatally. 27 These findings suggest that other metrics are needed to accurately represent the sagittal craniosynostosis phenotype to optimize the objective evaluation of both pretreatment status and posttreatment outcomes. This need has particular significance when developing ML models for the automated diagnosis of sagittal craniosynostosis, for which descriptive metrics rather than brute-force models based on massive data sets will likely provide clinicians and researchers the fastest path to the development of effective and accurate models.…”

A Case of Bilateral Lambdoid and Sagittal Synostosis Diagnosed with Skull Fracture after Vacuum-assisted Delivery: A Case Report and Literature Review

“…Currently, ultrasonography is the most commonly utilized prenatal fetal screening test, but there are still few reports on prenatal cranial sutures [14,16]. In a study of 618 cases of non-syndromic CS, only 2 (0.3%) were reported to have been diagnosed prenatally, and methods for the fetal diagnosis of non-syndromic CS by ultrasonography have not yet been established [4,5,8,18].…”

Can Craniosynostosis be Diagnosed on Physical Examination? A Retrospective Review

“…[31][32][33][34] Craniosynostosis has also been detected on prenatal ultrasound as early as 12 weeks gestation. [35][36][37] Because of the lack of radiation exposure and low cost of this method, there has been a push for the use of ultrasound as first-line imaging to assess suture patency. Cranial ultrasound is limited, however, as images are user-dependent and unlikely to be translatable between institutions.…”

“…Different institutions have published studies comparing cranial ultrasound to CT and report variable sensitivities from 71.4% to 100% 31–34 . Craniosynostosis has also been detected on prenatal ultrasound as early as 12 weeks gestation 35–37 . Because of the lack of radiation exposure and low cost of this method, there has been a push for the use of ultrasound as first-line imaging to assess suture patency.…”