Diagnosis of cleft lip-palate during nuchal translucency screening – case report and review of the literature

2012 ◽  
Vol 1 (1-2) ◽  
Author(s):  
Ashwin R. Jadhav ◽  
Ana Monteagudo ◽  
Rosalba Santos ◽  
Ilan Timor
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
First Trimester ◽  
Nuchal Translucency ◽  
3D Ultrasound ◽  
Ultrasound Screening ◽  
Aneuploidy Screening ◽  
Detection Rates ◽  
Cleft Lip Palate

AbstractOrofacial clefts are the most common group of craniofacial anomalies. The detection rate of cleft lip during the mid-trimester, using two-dimensional (2D) ultrasound screening, has improved over the last three decades. However, the detection rates of defects involving the hard palate or isolated cleft palate have remained poor. Over the last decade, many investigators have studied the use of 3D ultrasound to improve the detection rates of these defects. With the increasing use and acceptance of first-trimester aneuploidy screening in the US, there is growing interest in performing first-trimester fetal anatomy surveys. Reports of first-trimester diagnosis of cleft lip and palate are rare, and this aspect of prenatal sonographic diagnosis remains underexplored. We report a case of unilateral cleft lip and cleft palate diagnosed during a routine first-trimester screening at 12 weeks’ gestation and review the pertinent literature on first-trimester diagnosis of cleft lip/palate.

scholarly journals How is the face formed and when it goes wrong: In relation to Cleft Lip/Palate

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Fozia Khan
Keyword(s):  
Cleft Lip ◽  
Normal Development ◽  
Cleft Lip And Palate ◽  
Complex Structure ◽  
First Trimester ◽  
Facial Defect ◽  
Facial Defects ◽  
The Face ◽  
Embryonic Life ◽  
Cleft Lip Palate

The normal development of the face relies upon the correct morphogenesis of structures in utero that usually occurs within the first trimester of embryonic life. The face is a very complex structure involving many genes and factors and with it being such a crucial part of life, both physically and aesthetically and therefore mentally, its important for everything to be just right. However, when the normal process doesn’t go to plan this results in dysmorphogenesis, which cleft lip and palate (CLP) is an example of as the lip/palate doesn’t fuse together and the infant is left with a gap. Although the exact cause of CLP is unknown, it is thought to be a mixture of genetics, environment and the teratogens the mothers are exposed to within the environment. This report will demonstrate the normal development of the face for the purpose of understanding how it goes wrong, resulting in CLP. Since there is still a lot to be understood about CLP it will also shed light on recent advances in relating SHH and certain genes as a possible cause for this dysmorphogenesis. The report will also briefly look at the relation of CLP with the genes associated with syndromic and non-syndromic diseases and the different types of CLP. There are many other facial defects that are a result of dysmorphogenesis, however as CLP is one of the most common yet poorly understood facial defect, it will be the main focus of this report.

Prevalence of Cleft Lip/Palate in the Fangshan District of Beijing, 2006-2012

2018 ◽  
Vol 55 (9) ◽  
pp. 1296-1301 ◽  
Author(s):  
Yanfen Yang ◽  
Hui Liu ◽  
Ruixin Ma ◽  
Lei Jin
Keyword(s):  
Data Analysis ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Upward Trend ◽  
Live Births ◽  
Cleft Lip Palate ◽  
Obstetric Services ◽  
Permanent Residents ◽  
Beijing China

Objective: To estimate the cleft lip with or without cleft palate (CL/P) prevalence among births between 2006 and 2012 in Fangshan district of Beijing, China. Design: Surveillance data analysis. Setting: All hospitals that provide obstetric services in the district. Patients: The CL/P cases presented for this report were from 13 weeks’ gestation to 7 days postpartum. Main Outcome Measures: The CL/P prevalence was defined as the number of cases per 10 000 births, including live births and stillbirths at 28 weeks’ gestation or beyond. Results: The overall CL/P prevalence was 18.9 (95% confidence interval [CI]: 15.1-22.7) per 10 000 births. From 2006 to 2012, the CL/P prevalence was 19.3, 20.2, 10.9, 16.1, 17.5, 25.4, and 22.3 per 10 000 births; annually, no significant change was noted ( Pfor trend = .311). The prevalence of cleft palate, cleft lip, and cleft lip and palate were 3.4 (95% CI: 2.0-5.4), 6.2 (95% CI: 4.2-8.8), and 9.4 (95% CI: 6.9-12.4) per 10 000 births, respectively. The CL/P prevalence among the nonpermanent residents (31.4 per 10 000 births) was 2.31 times that of permanent residents (13.6 per 10 000 births). Among nonpermanent residents, the CL/P prevalence showed an upward trend over the study period ( Pfor trend = .036), that increased from 38.8 (95% CI: 16.5-76.6) per 10 000 births in 2006 to 54.6 (95% CI: 25.7-100.4) per 10 000 births in 2012. Conclusions: The overall CL/P prevalence was stable in the Fangshan district. However, the CL/P prevalence of the nonpermanent residents increased significantly.

Pattern of Cleft Lip and Palate in Hospital-Based Population in Saudi Arabia: Retrospective Study

2008 ◽  
Vol 45 (6) ◽  
pp. 592-596 ◽  
Author(s):  
Aziza Aljohar ◽  
Kandasamy Ravichandran ◽  
Shazia Subhani
Keyword(s):  
Saudi Arabia ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tertiary Care ◽  
Positive Family History ◽  
Care Hospital ◽  
Associated Anomalies ◽  
Cleft Lip Palate ◽  
Isolated Cleft Palate

Objective: To report the patterns of cleft lip and/or cleft palate in Saudi Arabia from data collected at a tertiary care hospital. Design and Setting: King Faisal Specialist Hospital and Research Center, Riyadh. Patients: All the cleft lip and/or cleft palate patients registered in the Cleft Lip/Palate and Craniofacial Anomalies Registry from June 1999 to December 2005. Results: Retrospectively, 807 cases of cleft lip and/or palate were registered. There were 451 boys and 356 girls. Cleft lip and palate was more common (387) than isolated cleft palate (294) and isolated cleft lip (122). Boys predominated in cleft lip and palate and cleft lip; whereas, girls predominated in isolated cleft palate, with boy to girl ratios of 1.6:1, 1.2:1, and 0.9:1 for cleft lip and/or palate, isolated cleft lip, and isolated cleft palate, respectively. The Riyadh region had more cases (32.0%) than the Asir (15.6%) and Eastern (14.6%) regions. Parents of 439 individuals had consanguineous marriages. A positive family history of cleft was seen in 224 cases. Of 238 cases with associated anomalies, 91 had congenital heart disease. Of the children with isolated cleft palate, 40.5% had associated anomalies, whereas only 23.0% of the children with isolated cleft lip or cleft lip and palate had associated malformations. Conclusion: The pattern of cleft observed in this study does not differ significantly from those reported in the literature for Arab populations.

scholarly journals Incidence of Orofacial Clefts in Kumasi, Ghana

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Orofacial Clefts ◽  
Female Ratio ◽  
Live Births ◽  
Male Female Ratio ◽  
Cleft Lip Palate ◽  
History Of

Background. Cleft lip and cleft palate are among the most common orofacial congenital anomalies. This study is to establish Orofacial Clefts Database for Kumasi, Ghana, with a view to extend it to other cities in future to obtain a national orofacial anomaly database. Methods. A descriptive prospective survey was carried out at eleven selected health facilities in Kumasi. Results. The total number of live births recorded was 27,449. Orofacial anomalies recorded were 36, giving an incidence of 1.31/1000 live births or 1 in 763 live births. The mean maternal age of cleft lip/palate babies was 29.85 years (range 18–40 years). The male : female ratio for the orofacial anomalies babies was 1.3 : 1; the male : female ratio was 0.5 : 1 in the cleft lip group, 1.3 : 1 in the cleft lip and palate group, and 4 : 1 in the cleft palate group. The majority of clefts were unilateral (69.4%, n=25), with females (n=14) outnumbering males (n=11). A family history of cleft was recorded with five babies (13.9%). Associated congenital anomalies were recorded in seven (19.4%) cleft lips and/or palates. Conclusion. The incidence of 1 in 763 live births found in this study indicates that cleft lip/palate is a common congenital anomaly in Kumasi.

scholarly journals Assessment of role of consanguinity in formation of cleft lip and cleft palate

2020 ◽  
Vol 11 (SPL3) ◽  
pp. 1027-1031
Author(s):  
Joshini Shanmugam ◽  
Senthil Murugan P ◽  
Suresh V
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chi Square ◽  
Consanguineous Marriages ◽  
Cleft Lip Palate ◽  
Chi Square Test ◽  
History Of ◽  
Autosomal Recessive Diseases

Consanguinity is considered a significant factor in autosomal recessive diseases; it has also been associated with congenital anomalies such as hydrocephalus, polydactilia and Cleft Lip and Palate deformities. The risk of congenital conditions is higher in subjects born of first degree consanguineous parents compared with those of non-consanguineous marriages. The aim of this study is to evaluate the prevalence of consanguinity with formation of cleft lip/ cleft palate formation in Tamil, Telugu population. This is a retrospective study. The details of 86,000 patient records were reviewed and analysed, out of which 76 patients who had undergone surgical treatment for cleft lip and cleft palate deformities between June 2019 to march 2020 were included in this study. The details like age, gender, family history and cleft diagnosis were evaluated and entered in SPSS and analysed through a chi-square test. It was observed that 11% of patients reported with history of consanguineous marriages which was associated with formation of cleft lip/palate. Within the limits of the study, it was concluded that consanguinity had a significant role in formation of cleft lip/cleft palate.

scholarly journals First Trimester Ultrasound Screening: An Update

2010 ◽  
Vol 4 (2) ◽  
pp. 97-116 ◽  
Author(s):  
JD Sonek ◽  
M Glover ◽  
M Zhou ◽  
KH Nicolaides
Keyword(s):  
Gestational Age ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Great Promise ◽  
Ultrasound Screening ◽  
Detection Rates ◽  
Crown Rump Length

Abstract For many years, the main use of ultrasound in the first trimester of pregnancy was to confirm viability and to establish gestational age. Indeed, the crown-rump length measurement in the first trimester remains the most accurate method to estimate the gestational age even today. However, improvements in ultrasound equipment and improvement in our understanding of normal and abnormal fetal development allows us now to perform a much more complete first trimester fetal evaluation. This pertains not only to the diagnosis of fetal anomalies but also to screening for fetal defects. The combination of the nuchal translucency measurement and maternal serum biochemistries (free β-hCG and PAPP-A) has been shown to be an extremely efficient way to screen for fetal aneuploidy. The addition of other first trimester markers such as the nasal bone evaluation, frontomaxillary facial angle measurement, and Doppler evaluation of blood flow across the tricuspid valve and through the ductus venosus improves the screening performance even further by increasing the detection rates and decreasing the false positive rates. Several of the first trimester markers also are useful in screening for cardiac defects. Furthermore, significant nuchal translucency thickening has been associated with a variety of genetic and nongenetic syndromes. A recently described first trimester marker called the intracerebral translucency appears to hold great promise in screening for open spine defects. Finally, it appears that a first trimester evaluation (uterine artery Doppler and the measurement of certain biochemical markers in the maternal serum) significantly improves the assessment of the risk of preeclampsia.

scholarly journals Fatores de Riscos na Fissura Labiopalatina Não Sindrômica

UNICIÊNCIAS ◽  
2021 ◽  
Vol 24 (1) ◽  
pp. 86-93
Author(s):  
Carla Meliso Rodrigues Silvestre ◽  
Renata Cristina Giroto Ferreira da Silva ◽  
Ageo Mario Candido da Silva ◽  
Walkiria Shimoya Bittencourt ◽  
Yolanda Benedita Abadia Martins de Barros ◽  
...  
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Literature Review ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
First Trimester ◽  
Human Beings ◽  
Factors Associated ◽  
Narrative Literature Review

As anomalias craniofaciais representam um grupo amplo de malformações congênitas que afetam uma grande proporção da sociedade mundial. Entre essas se encontram as fissuras de lábio e/ou de palato, anomalia orofacial mais frequente entre os seres humanos que ocasionam problemas estéticos e funcionais nos indivíduos afetados.  A etiologia das fissuras labiopalatinas isoladas ou não-sindrômicas é complexa e multifatorial, associadas à fatores hereditários e ambientais. Este estudo teve como objetivo relatar os fatores genéticos e ambientais associados à etiologia desse tipo de malformação, através de uma revisão narrativa de literatura, a partir das bases de dados: PubMed e Scielo. Os descritores utilizados foram: cleft palate AND cleft lip AND etiology AND risk factors. Incluíram-se artigos nos idiomas inglês e português publicados em periódicos nacionais e internacionais acerca da temática da pesquisa. Baseado na revisão de literatura se pode identificar que os fatores ambientais como: fumo, consumo de álcool, consumo de medicamentos, o não uso de suplementação com polivitamínicos e ácido fólico, exposição a agrotóxicos, idade dos genitores podem aumentar a chance de ocorrência das fissuras labiopalatinas. O acompanhamento gestacional durante o primeiro trimestre gestacional se faz necessário, a fim de monitorar os fatores de risco associados com as fissuras labiopalatinas não sindrômicas.   Palavras-chave: Fissura Palatina. Fenda Labial. Etiologia. Fatores de Risco.   Abstract Craniofacial anomalies represent a broad group of congenital malformations that affect a large proportion of world society. Among them are cleft lip and / or palate, the most frequent orofacial anomaly among human beings that cause aesthetic and functional problems in the affected individuals. The etiology of isolated or non-syndromic cleft lip and palate is complex and multifactorial, associated with hereditary and environmental factors. This study aimed to report the genetic and environmental factors associated with the etiology of this type of malformation through a narrative literature review conducted in October 2020, using the PubMed and Scielo databases. The keywords used were cleft palate AND cleft lip AND etiology AND risk factors. Articles in English and Portuguese published in national and international journals about the research theme were included. Based on the literature review, it can be identified that environmental factors such as smoking, alcohol consumption, medication consumption, the non-use of supplementation with multivitamins and folic acid, exposure to pesticides, age of parents can increase the chance of cleft lip and palate occurrence. Gestational monitoring during the first trimester of pregnancy is necessary in order to monitor the risk factors associated with non-syndromic cleft lip and palate.   Keywords: Cleft Palate. Cleft Lip. Etiology. Risk Factors.

Maternal Drug Use and Infant Cleft Lip/Palate with Special Reference to Corticoids

2003 ◽  
Vol 40 (6) ◽  
pp. 624-628 ◽  
Author(s):  
Bengt Källén
Keyword(s):  
Drug Use ◽  
Cleft Palate ◽  
Early Pregnancy ◽  
Cleft Lip ◽  
First Trimester ◽  
Orofacial Cleft ◽  
Orofacial Clefts ◽  
Maternal Drug Use ◽  
Median Cleft ◽  
Cleft Lip Palate

Objective To study the association between maternal drug use in early pregnancy and orofacial cleft in the infant. Design Register analysis based on prospectively collected information. Patients All delivered women in Sweden July 1, 1995, through December 31, 2001. Main outcome measure Presence of orofacial cleft in infant. Results Prospective information on maternal drug use during the first trimester, as reported in early pregnancy, was studied in 1142 infants with orofacial clefts, isolated or with other malformations, excluding chromosome anomalies. Any drug use was not associated with clefts (odds ratio [OR] = 0.98, 95% confidence interval [95% CI] = 0.85 to 1.13), with isolated clefts (OR = 0.92) with isolated median cleft palate (OR = 1.03, 95% CI = 0.79 to 1.36) or with isolated cleft lip with or without cleft palate (OR = 0.86, 95% CI = 0.71 to 1.05). Reported use of multivitamins, folic acid, or B12 was not associated with a decrease in orofacial cleft risk (OR = 1.00, 95% CI = 0.63 to 1.52). ORs above 2 were seen for some drugs: sulfasalazine, naproxen, and anticonvulsants, but only a few exposed cases occurred. An association between glucocorticoid use and infant cleft was indicated and seemed to be strongest for median cleft palate. Conclusion Maternal drug use seems to play only a small role for the origin of orofacial clefts, at least in Sweden.

scholarly journals Compensation orthodontic treatment of an adult patient with bilateral cleft lip and palate clip. Case Report

2017 ◽  
Vol 23 (2) ◽  
Author(s):  
Otto Madrid ◽  
Isabel-Cristina Jaramillo ◽  
Habib Barhoum
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Clinical Case ◽  
Cleft Lip And Palate ◽  
Bilateral Cleft Lip ◽  
Cleft Lip Palate ◽  
Fixed Appliances ◽  
The University

Clinical case of a 28 year old patient with bilateral cleft lip palate, who was treated during a period of 5 years and 4 months, at the University of Valle postgraduate orthodontic’s clinic of lip and palate, is presented. The patient had undershot jaw, severe mandibular macrognatismo, molar malocclusionclass I and class II right and left, accompanied by severe recumbent and mild retrusión of upper incisors and lower and, multiple malposition and impaction tooth 12. A non - surgical orthodontic plan compensation was developed and accompanied by an initial mandibular treatment, orthopedic expansion and corrective orthodontic treatment, using fixed appliances such as standard braces slot 0.22x0.028 inches, extractions of lower first premolars, typing canines as lateral incisors as well as rehabilitation of the upper front teeth. Satisfactory results were obtained in terms of aesthetic and functional occlusion. Key words: Cleft lip, cleft palate, orthodontic treatment of compensation, bilateral cleft lip and palate.

scholarly journals Prenatal Diagnosis of Fetal Cleft Lip and Palate with Three-Dimensional Ultrasound Information Technology

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Xinglong Deng ◽  
Suhui He ◽  
Qiumei Wu ◽  
Zongjie Weng ◽  
Minmin Yang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cleft Palate ◽  
Detection Rate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ultrasound Examination ◽  
Three Dimensional ◽  
Two Dimensional ◽  
Bilateral Cleft Lip ◽  
Cleft Lip Palate

Objective. To evaluate the three-dimensional ultrasound paper cleft lip and palate deformities in applications in prenatal diagnosis. Methods. 25 cases of cleft lip and palate fetus, 20–32 weeks of gestational age, with the maternal age of 22–44 years, were examined by prenatal ultrasound in our hospital; conventional two-dimensional ultrasound examination was performed after a cleft lip, and the application of three-dimensional ultrasound imaging surface and a transparent imaging showed the alveolar process and the palate of the fetus. Also, the results of two-dimensional ultrasound and postnatal (or after induction) results were compared. Results. Of the 25 cases, there were 6 cases of postpartum induction or simply unilateral cleft lip, 17 cases of unilateral cleft palate, and two cases of bilateral cleft lip palate. There was no significant ( P > 0.05 ) difference of two- and three-dimensional ultrasound detection rate of pure cleft lip; two-dimensional ultrasound cleft palate detection rate was 36.8% (7/19), and three-dimensional ultrasound cleft palate detection rate was 89.5% (17/19). The two methods showed a statistically significant ( P < 0.05 ) difference in the detection rate of cleft palate. Conclusion. Three-dimensional ultrasound can significantly improve the diagnostic accuracy of prenatal cleft palate.

Sign in / Sign up

Export Citation Format

Share Document