Comparison of prenatal ultrasound with MRI in the evaluation and prediction of fetal orofacial clefts

BACKGROUND: Orofacial clefts (OFCs) are common craniofacial abnormalities. This study aimed to compare the diagnostic and predictive values of prenatal ultrasonography (US) and magnetic resonance imaging (MRI). METHODS: We reviewed the newborn physical examinations or fetal autopsy data with OFCs. Between January 2013 and December 2018, the diagnoses resulting from prenatal US and MRI examination were compared retrospectively with the postpartum diagnoses. The diagnostic prediction of prenatal imaging was then determined. RESULTS: 334 infants were identified with OFCs by either newborn physical exam or stillborn autopsy. For detection of OFCs by US, the total accuracy (ACC), true positive rate (TPR), true negative rate (TNR), positive predictive value (PPV), and negative predictive value (NPV) were 99.9% (111,178/110,286), 81.9% (230/281), 99.9% (109,948/110,005), 80.1% (230/287), and 99.9% (109,948/109,999), respectively. For MRI, the ACC, TPR, TNR, PPV, and NPV were 99.8% (4,125/4,132), 89.8% (44/49), 99.9% (4,081/4,083), 95.7% (44/46), and 99.9% (4,081/4,086), respectively. When we compared the predictive values between prenatal US and MRI, there were significant differences in the PPV of OFCs (P < 0.05), NPV of OFCs (P < 0.05), TPR of CLO (P < 0.001), PPV of CLP (P < 0.05), and TPR of CPO (P < 0.05). CONCLUSION: Our results suggest that prenatal US could be effective for diagnosing and ruling out fetal OFCs. Diagnostic confidence is significantly improved when fetal MRI is used to assess fetal OFCs as an adjunct to US examination.