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

(2022) 22:213 Gai et al. BMC Medical Imaging https://doi.org/10.1186/s12880-022-00929-9 Open Access RESEARCH ARTICLE Comparison of prenatal ultrasound with MRI in the evaluation and prediction of fetal orofacial clefts Shuangshuang Gai1,2†, Lixiu Wang2† and Weizeng Zheng3*    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. Keywords: Prenatal diagnosis, Ultrasonography, Orofacial cleft, Magnetic resonance imaging, Predictive value of tests Background Fetal orofacial clefts (OFCs) are the most common congenital craniofacial anomaly, which impacts negatively on the life of the individual, and these defects occur in approximately 1.7 per 1000 live-born babies [1]. In current routine clinical practice, prenatal diagnosis of fetal † Shuangshuang Gai and Lixiu Wang are contributed equally *Correspondence: 3 Department of Radiology, Women’s Hospital, Zhejiang University School of Medicine, Xueshi Rd No.1, Hangzhou 310006, Zhejiang, People’s Republic of China Full list of author information is available at the end of the article OFCs is performed by ultrasound (US) and is reasonably accurate in most cases. With advances in US technologies, it may become easier to accurately diagnose a fetal OFC [2–4]. In future decades, further improvements in the expertise of sonographers should also result in continued increases in detection accuracy and rates [5–7]. OFCs may involve the lip, the primary palate and secondary palate, or the soft palate, and may also involve structures around the oral cavity, which can extend into the facial structures resulting in oral, facial, and craniofacial deformity [8]. However, the isolated cleft palate is difficult to detect on US images, and diagnosis of a cleft lip © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Gai et al. BMC Medical Imaging (2022) 22:213 Page 2 of 7 with or without cleft palate by US is not sufficiently accurate in primary care settings [7, 9, 10]. Fetal imaging is still a burgeoning topic. Magnetic resonance imaging (MRI) is an effective supplement to US and represents a valuable technique for diagnosing fetal facial deformities as MRI has the characteristics of a strong tissue contrast, multi-planar ability, good resolution, and is less affected by human factors [11, 12]. Inutero MRI can provide additional information regarding your baby’s diagnosis when the congenital malformation is detected on fetal ultrasound, and the value of MRI is potentially for isolated cleft palates as well which can be missed on ultrasound [13, 14]. In addition, the previous results demonstrated that the classification and degree of involvement of the cleft palate can be determined by fetal MRI [15]. More importantly, according to previous reports, there is currently insufficient evidence of the predictive probabilities of MRI alone in the diagnosis and classification of OFCs. The present study aimed to collect fetal cases who were diagnosed with OFCs in antenatal or postnatal periods. The aim of this study was to report the predictive probabilities of prenatal US and MRI in the diagnosis of OFCs using larger sample sizes. Moreover, the objective of the present study was to compare the diagnostic values of prenatal US and MRI in the classification of OFCs. Systems (Zhejiang Greenlander I.T. Co., Ltd., Hangzhou, China). Using postnatal physical examination or fetal autopsy as the “gold standard”, we analyzed the relationship between OFCs deformity and prenatal imaging. The true positive rate (TPR) (also called sensitivity), true negative rate (TNR) (also called specificity), positive predictive value (PPV), and negative predictive value (NPV) of OFCs were calculated separately and further compared. Methods Data were assessed using the software package SPSS version 21.0 (IBM SPSS Statistics for Windows, Armonk, NY, USA). The predictive probabilities were assessed by the TPR, TNR, PPV, and NPV. The analyses included student t-tests for continuous variables, Chi-square test for categorical variables. All statistical tests were two-sided, and P-values ≤ 0.05 were considered indicative of a statistically-significant difference. Patients and setting All clinical and imaging data were from patients enrolled at the Women’s Hospital, Zhejiang University School of Medicine, Hangzhou, China. This present study was approved by the Institutional Review Board, Women’s Hospital, Zhejiang University School of Medicine (Approval Number: IRB-2 (...truncated)