Fetal uvula: navigating and lightening the soft palate using HDlive (original) (raw)

Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review

Ultrasound in Obstetrics and Gynecology, 2010

Objectives To systematically review the diagnostic accuracy of second-trimester transabdominal ultrasound in detecting orofacial clefts in low-and high-risk populations and to compare two-dimensional (2D) with three-dimensional (3D) ultrasound techniques. Methods MEDLINE and EMBASE were searched for articles published in English, Dutch, French or German using the keywords 'cleft' and 'ultrasound' or 'screening' or 'sonogram' and 'prenatal' or 'antenatal' or 'fetus' to identify cohort studies and randomized trials in order to assess the detection rate by prenatal ultrasound of cleft lip and palate in high-risk and low-risk pregnant women. Results Of 451 citations identified, 27 met the criteria for the systematic review, 21 involving unselected lowrisk populations and six involving high-risk populations. In the selected studies there was diversity in the gestational age at which the ultrasound examination was performed and there was considerable variety in the diagnostic accuracy of 2D ultrasound in the low-risk women, with prenatal detection rates ranging from 9% to 100% for cleft lip with or without cleft palate, 0% to 22% for cleft palate only and 0% to 73% for all types of cleft. 3D ultrasound in high-risk women resulted in a detection rate of 100% for cleft lip, 86% to 90% for cleft lip with palate and 0% to 89% for cleft palate only. Conclusions 2D ultrasound screening for cleft lip and palate in a low-risk population has a relatively low detection rate but is associated with few false-positive results. 3D ultrasound can achieve a reliable diagnosis, but not of cleft palate only.

Modern Practice for Accurate Prenatal Detection of Cleft Lip & Cleft Palate; Literature Review

Introduction: Orofacial clefts, including cleft lip and/or palate are prevalent congenital anomalies forming between the 4th and 12th week of gestation which show varying incidences worldwide. Orofacial clefts can be syndromic or non-syndromic with both environmental and genetic factors increasing the risk of developing these structural defects. Management involves a multidisciplinary team to addresses structural, functional, cosmetic and psychological aspects of these defects which require early and accurate diagnosis during gestation. This literature review aims to identify imaging techniques and modalities including 2D, 3D and MRI to accurately diagnose cleft lip and palate.

A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

Journal of Medical Genetics, 2012

Objectives To systematically review the diagnostic accuracy of second-trimester transabdominal ultrasound in detecting orofacial clefts in low-and high-risk populations and to compare two-dimensional (2D) with three-dimensional (3D) ultrasound techniques. Methods MEDLINE and EMBASE were searched for articles published in English, Dutch, French or German using the keywords 'cleft' and 'ultrasound' or 'screening' or 'sonogram' and 'prenatal' or 'antenatal' or 'fetus' to identify cohort studies and randomized trials in order to assess the detection rate by prenatal ultrasound of cleft lip and palate in high-risk and low-risk pregnant women. Results Of 451 citations identified, 27 met the criteria for the systematic review, 21 involving unselected lowrisk populations and six involving high-risk populations. In the selected studies there was diversity in the gestational age at which the ultrasound examination was performed and there was considerable variety in the diagnostic accuracy of 2D ultrasound in the low-risk women, with prenatal detection rates ranging from 9% to 100% for cleft lip with or without cleft palate, 0% to 22% for cleft palate only and 0% to 73% for all types of cleft. 3D ultrasound in high-risk women resulted in a detection rate of 100% for cleft lip, 86% to 90% for cleft lip with palate and 0% to 89% for cleft palate only. Conclusions 2D ultrasound screening for cleft lip and palate in a low-risk population has a relatively low detection rate but is associated with few false-positive results. 3D ultrasound can achieve a reliable diagnosis, but not of cleft palate only.

Ultrasound antenatal diagnosis of cleft palate by a new technique: the 3D ?reverse face? view

Ultrasound in Obstetrics and Gynecology, 2005

Objective To assess the clinical value of a novel threedimensional (3D) ultrasound technique, the reverse face view (3D RF view), in the antenatal categorization of facial clefting and in particular clefting of the hard palate. Methods Eight cases of suspected orofacial clefting were examined by 3D surface rendering. The fetal lips and alveolar ridge were examined in the frontal plane and the face was then rotated through 180 • on the vertical axis to examine the secondary palate by the 3D RF view. Results In each case described, we were able to visualize the fetal face, lips and palate and make an antenatal diagnosis as to whether the palate was affected. In all cases, the antenatal diagnosis was subsequently confirmed. In one case with a left-sided cleft in the lips and alveolar ridge and an intact hard palate, the correct diagnosis was made but a cleft in the soft palate was missed. Conclusion Although clefts of the lips and alveolar ridge are readily diagnosed on high-quality antenatal ultrasound, visualization of the fetal palate using existing techniques is unreliable. In the patients described here, the 3D RF technique allowed relatively straightforward assessment of the fetal palate with a high degree of accuracy.

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

World Journal of Methodology

Cleft lip with or without cleft palate (CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams.

Pregnancy outcomes of patients diagnosed as having cleft lip or/and cleft palate in antenatal screening

Eastern Journal of Medicine, 2022

from the uvula to the incisive foramen, which is from back to front (1, 3). Approximately 70% of CL±P malformations are isolated, and 30% are associated with multiple congenital anomalies, syndromes, and chromosomal anomalies of unknown cause (4). Genes associated with orofacial clefts are often velocardiofacial syndrome (TBX1, COMT), CHARGE syndrome (CHD7), and Apert syndrome (FGFR2), but CL±P has been associated with nearly 500 genetic abnormalities in the Online Mendelian Inheritance in Man (OMIM) database (3, 5). CL±P can be diagnosed in the first trimester with two-dimensional (2D) ultrasound maxillary gap and retronasal triangular images in sagittal and ABSTRACT To evaluate the obstetric outcomes of extra ultrasonographic anomalies in patients with cleft lip or/and cleft (CL±P) palate. This retrospective study was conducted in a tertiary referral hospital between December 2017 and March 2021. The patients were analyzed under three groups as follows: isolated CL±P (group 1), CL±P with ultrasonographic anomalies with mild fetal and neonatal consequences (group 2), and CL±P with ultrasonographic anomalies with severe fetal and neonatal consequences (group 3). Fourty cases were analyzed. The abnormal karyotype result (16.7%) were 46,x,t (t15;16)(q26;24), monosomy 18, trisomy 13, 46, XX, 21ps +. In the central cleft, ultrasonographic anomalies were seen in nine patients, which was statistically significantly higher than in isolated CL±P (p=0.004). Seven patients with extra ultrasonographic anomalies underwent termination, one patient with anencephaly died in utero. Preterm birth was the most common obstetric complication in all groups (n=9, 27.2%). In group 3, polyhydramnios was observed statistically significantly more frequently than in group 2 (p=0.033), and the first minute APGAR score was statist ically significantly lower than in group 1 and 2 (p=0.003). The fifth minute APGAR score was statistically significantly lower and the need for the neonatal intensive care unit was statistically significantly higher than group 1 only (p=0.004 and p=0.007, respectively). Polyhydramnios is not found in isolated cases, but only in cases with additional anomalies. Patients with CL±P with either major or minor additional ultrasonographic anomalies have worse fifth minute Apgar results and a greater need for the NICU.

Accuracy of prenatal three-dimensional ultrasound in the diagnosis of cleft hard palate when cleft lip is present

Ultrasound in Obstetrics & Gynecology, 2011

K E Y W O R D S: cleft lip and palate; diagnostic test; prenatal diagnosis; three-dimensional ultrasound ABSTRACT Objective To investigate the accuracy of prenatal axial three-dimensional (3D) ultrasound in predicting the absence or presence of cleft palate in the presence of cleft lip. were 81 cases with a prenatal two-dimensional (2D) ultrasound screening diagnosis of unilateral or bilateral cleft lip at 22-25 weeks of gestation referred to our tertiary care center. Of these, 79 fetuses were included in this prospective study and two were excluded. Axial 3D ultrasound imaging of the fetal palate was performed and the diagnoses were compared with clinical findings at delivery. The frequencies of intact and cleft palate, the degree of association between the prenatal predictions and postnatal findings and the probability of detection of cleft lip and palate were determined.