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

Abstract

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.

A Novel Mutation of NONO-Associated X-linked Syndromic Intellectual Developmental Disorder-34 in a Fetus

“…This suggests that the proportion of mothers with this phenotype appearing before childbirth is relatively small. However, in regard to fetal macrocephaly in the prenatal setting, in addition to MRXS34, Beckwith-Wiedemann syndrome, which is a rare overgrowth syndrome manifesting as macrocephaly, needs to be excluded [12].…”

Craniofacial phenotyping with fetal MRI: a feasibility study of 3D visualisation, segmentation, surface-rendered and physical models

“…Yet, apart from several narrative and pictorial reviews [7][8][9], there has been only a limited number of dedicated original studies focusing specifically on fetal MRI of craniofacial features. Zemet (2020), Gai (2022), Arangio (2013) and co-authors, confirmed the added diagnostic value of fetal MRI for evaluation of fetal craniofacial anomalies in retrospective studies comparing MRI and US [10][11][12]. Other studies have focussed on the MRI imaging of specific features, pathology and measurements within the craniofacial anatomy, for example; the orbits [13][14][15]; orofacial clefts, including cleft lip and palate [16][17][18][19][20][21]; inner, middle and external ear structures [22][23][24][25]; the upper and lower jaw [26][27][28]; and skull shape deformities to include craniosynostosis [29][30][31].…”

Diagnostic Methods for the Prenatal Detection of Cleft Lip and Palate: A Systematic Review

“…Therefore, a precise prenatal diagnosis of cleft lip and palate is essential for establishing comprehensive treatment plans, making accurate prognostic predictions, and providing necessary counseling to parents [2,7].…”

“…Accordingly, in 2001, two-dimensional (2D) ultrasound screening became universally used by government guidelines [9], and after 2007, technology underwent extensive development with the availability of three-dimensional (3D) ultrasound [10] (see Figure 1) [3]. However, cleft palate alone is difficult to detect on ultrasound imaging, and the diagnosis of cleft lip with or without cleft palate by ultrasound is not accurate enough in primary care settings [7]. Ultrasound detection results have certain limitations due to factors such as gestational age, amniotic fluid volume, and maternal obesity of pregnant women [11,12].…”

“…In addition, it is important to note that in utero MRI could be a useful tool for supplementing the diagnosis when fetal ultrasound detects a congenital malformation, especially significant in cases of isolated cleft palates that might not be detected by ultrasound alone [7].…”