Diagnostic significance of combined two-dimensional ultrasound and three-dimensional tomographic ultrasound imaging for cleft palate in fetus of 11-13 + 6 weeks: a prospective study.

Abstract

Purpose: Clinical screening for cleft palate in fetus currently focuses on weeks 20-24. It has been shown that cleft palate can be detected by ultrasound in first-trimester anatomy scan, but there are no large-scale samples to validate. This study was to confirm the ability of combined two-dimensional(2D)-ultrasound and three-dimensional(3D)-tomographic ultrasound imaging (TUI) to safely detect an fetal cleft palate at 11-13 + 6 weeks via large-scale samples.

Methods: A prospective study was designed, involving 6870 pregnant women applying 2D-ultrasound transabdominal sweeps of the fetal face in the median sagittal and coronal views of the retronasal triangle with abnormalities of the palatal line detected, followed by an axial view of the superior alveolar eminence and 3D-TUI evaluation. The endpoints were the results of the fetal facial profile assessment for delivery and induction of labor. The accuracy, sensitivity, and specificity of ultrasound for diagnosing a cleft palate at 11-13 + 6 weeks were analyzed.

Results: Among 6870 fetus, a total of 43 different cleft palate types were diagnosed by 2D-ultrasound in three-sections at the 11-13 + 6 weeks, and a total of 6827 cases were diagnosed of negative for cleft palate. Of the 43 cases diagnosed of positive for cleft palate, three cases were false positives compared to endpoint results, with a correct positive predictive value of 93.0%. Of the 6827 cases diagnosed of negative for cleft palate, five cases were false negatives compared to endpoint results, with a correct negative predictive value of 99.0%. The sensitivity and specificity of 2D-ultrasound screening for cleft palate were 84.4%, and 99.9%, respectively. The 43 cases received 3D-TUI scans, and the results showed that 37 cases of cleft palate detected, with a positive predictive value of 86.0%, which was lower than that of 2D ultrasonography (93.0%) (p < 0.05).

Conclusion: It may be feasible and accurate to diagnose cleft palate in fetus at 11-13 + 6 weeks by using combined 2D three sections ultrasound and 3D-TUI scans.