Accurate diagnosis of prenatal cleft lip/palate by understanding the embryology

Smarius, Bram; Loozen, C.S.; Manten, Wendy; Bekker, Mireille N.; Pistorius, L. R.; Breugem, Corstiaan C.

doi:10.5662/wjm.v7.i3.93

Cited by 61 publications

(83 citation statements)

References 24 publications

(33 reference statements)

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“…Although 3-D US is optimized for rapid reconstruction, it may sacrifice the anatomical detail in favor of realtime display. 33 In contrast, 13,14,23 some scholars have reported that an isolated CL may be more difficult to detect on MRI than on US, due to the partial volume averaging in MRI, which results in lower spatial resolution. 33 However, the present findings contradicts this, in which all isolated cleft cases were detectable by MRI, but missed by US.…”

Section: Discussionmentioning

confidence: 99%

“…However, this method is not suitable for evaluating of the palate, hence a fetal CP can be easily missed by US . A review in 2017 revealed that the detection rate of US for fetal CP was only 0‐1.4% …”

Section: Introductionmentioning

confidence: 99%

“…2,13 A review in 2017 revealed that the detection rate of US for fetal CP was only 0-1.4%. 14 In addition to US, magnetic resonance imaging (MRI) may be very relevant for this condition, due to its high soft tissue resolution, large field of view, nonionizing radiation, and nonrestriction by fetal position and amniotic fluid. [15][16][17][18][19][20] Although several studies have been conducted on the accuracy of US and MRI for the detection of fetal anomalies, 16,17,[21][22][23][24] there is no such study on the accuracy of MRI in determining the type of cleft.…”

Section: Introductionmentioning

confidence: 99%

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Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging

et al. 2019

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Objective This study aims to evaluate the accuracy of magnetic resonance imaging (MRI) in diagnosing orofacial clefts and proposes specific signs for determining the type of cleft. Methods Pregnant women in whom fetal facial malformations are suspected by ultrasonography (US) underwent 1.5 T MRI. The accuracy of the prenatal US and MRI diagnosis was compared with the postnatal findings. Results A total of 71 fetuses were included in the final analysis, which comprised of 35 cases of isolated cleft lip, six cases of cleft lip and alveolus, 21 cases of cleft lip and palate, four cases of isolated cleft palate, and five normal fetuses. MRI was more sensitive than US (MRI 100%, US 77.5%; Fisher's exact test: MRI vs US P=0.000). The accuracy of MRI for all types was 100%. Specific signs (Inverted T, L/anti‐L, U, and “Notch” signs) were proposed, indicating the normal hard, unilateral cleft, bilateral cleft, and cleft soft palates, respectively, which can facilitate the identification of different types of cleft palates. Conclusion MRI can accurately diagnose the type of cleft based on typical signs, which can serve as a definite diagnostic modality and an effective supplement of US.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging

et al. 2019

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“…The frequencies of dermatoglyphic patterns on the fingers and palms have been studied for many years as potentially sensitive indicators of generalized prenatal developmental delay or instability [7][8][9][10]. Because there exists an embryological overlap in the chronologies of the formation of the lip and palate in utero (4th-9th week) [11,12] and dermatoglyphics (6th-24th week) [13][14][15][16], numerous studies have examined dermatoglyphic traits in nonsyndromic clefting in multiple populations. Many have reported altered frequencies of dermatoglyphic patterns [16][17][18][19][20][21][22][23][24][25][26][27][28][29][30] or increased pattern asymmetry [22,24,27,28,[31][32][33][34][35][36] between cleft cases, unaffected relatives, and/or controls.…”

Section: Introductionmentioning

confidence: 99%

Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns

et al. 2020

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Dermatoglyphic patterns on the fingers often differ in syndromes and other conditions with a developmental component, compared to the general population. Previous literature on the relationship between orofacial clefts-the most common craniofacial birth defect in humansand dermatoglyphics is inconsistent, with some studies reporting altered pattern frequencies and/or increased asymmetry and others failing to find differences. To investigate dermatoglyphics in orofacial clefting, we obtained dermatoglyphic patterns in a large multiethnic cohort of orofacial cleft cases (N = 367), their unaffected family members (N = 836), and controls (N = 299). We categorized fingerprint pattern types from males and females who participated at five sites of the Pittsburgh Orofacial Cleft study (Hungary, United States of America (Pennsylvania, Texas), Spain, and Argentina). We also calculated a pattern dissimilarity score for each individual as a measure of left-right asymmetry. We tested for group differences in the number of arches, ulnar and radial loops, and whorls on each individual's hands, and in the pattern dissimilarity scores using ANOVA. After taking sex and site differences into account, we did not find any significant pattern count differences between cleft and non-cleft individuals. Notably, we did observe increased pattern dissimilarity in individuals with clefts, compared to both their unaffected relatives and controls. Increased dermatoglyphic pattern dissimilarity in individuals with nonsyndromic orofacial clefts may reflect a generalized developmental instability.

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“…Clefts can appear as unilateral left, unilateral right, and bilateral; these types of clefting present in the following ratio: 6:3:1. (Smarius et al, 2017) According to the international perinatal database of typical oral clefts, the presence of a cleft lip with or without cleft palate is approximately 10 in 10,000. There is strong evidence that there is considerable international variation of prevalence, most likely due to differences in access to healthcare.…”

Section: Public Abstractmentioning

confidence: 99%

Expanding the occlusal phenotype of non-syndromic orofacial clefting

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I would like to thank my wife for all the support, encouragement, and patience as we have traveled all over the country in pursuit of my goals. She deserves so much credit for my success and I am truly grateful to have her by my side. I would also like to thank my parents, Steve and Bobbie, and sister, Lexi, for showing me what it means to work hard and giving me all the support and resources to guide me on the road to success. Big shout out to my extended family, friends, faculty, staff and co-residents that have seen me grow through this entire process. Many thanks are also due to my thesis director Dr. Lina Moreno, and to my other thesis committee members as follows: Dr. Brian Howe, for his help with training in the collection of intraoral data and critically evaluating and improving my thesis document. To Dr. Mary Marazita for the invaluable opportunity to work with the largest data set in orofacial clefting and control populations existing to date, and finally to Dr. Veerasathpurush Allareddy for bringing his expertise in diagnoses and treatment of craniofacial anomalies and for critically evaluating my thesis document. Special thanks also to Derek Blanchette for providing statistical support for data analysis and result reporting, and to Joel Anderton for his work on survey design, data collection, coordination and calibration results.

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Accurate diagnosis of prenatal cleft lip/palate by understanding the embryology

Cited by 61 publications

References 24 publications

Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging

Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging

Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns

Expanding the occlusal phenotype of non-syndromic orofacial clefting

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