Prenasal Thickness, Prefrontal Space Ratio and Other Facial Profile Markers in First-Trimester Fetuses with Aneuploidies, Cleft Palate, and Micrognathia

2016 ◽  
Vol 43 (3) ◽  
pp. 231-240 ◽  
Author(s):  
Merel Bakker ◽  
Margherita Pace ◽  
Els de Jong-Pleij ◽  
Erwin Birnie ◽  
Karl-Oliver Kagan ◽  
...  
Keyword(s):  
Cleft Palate ◽  
First Trimester ◽  
Facial Profile ◽  
Space Ratio

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.

Measurement of inferior facial angle and prefrontal space ratio in first trimester fetuses with aneuploidies: a retrospective study

2019 ◽  
Vol 47 (9) ◽  
pp. 969-978
Author(s):  
Ismail Tekesin ◽  
Oliver Graupner
Keyword(s):  
Intraclass Correlation ◽  
Correlation Coefficients ◽  
First Trimester ◽  
Trisomy 18 ◽  
Ultrasound Images ◽  
Prediction Limit ◽  
2D Ultrasound ◽  
First Trimester Of Pregnancy ◽  
The Mean ◽  
Space Ratio

Abstract Objective To determine whether the measurement of inferior facial angle (IFA) and prefrontal space ratio (PFSR) in two-dimensional (2D) ultrasound images in the first trimester of pregnancy is reliable and to describe these markers in normal and aneuploid fetuses. Methods IFA and PFSR were measured in stored 2D midsagittal images of 200 normal and 140 aneuploid fetal profiles between 11 + 0 and 13 + 6 weeks of gestation. Limits of agreement (LOAs) and intraclass correlation coefficients (ICCs) for inter- and intraobserver differences were calculated. Results The mean IFA in normal fetuses was 76.5° ± 6.3. Between the two measurement rounds of the same observer, the LOAs were −5.4 to 7.1 (obs. 1) and 7.4 to 8.4 (obs. 2). For IFA measurements by the same observer the ICC was 0.88 (obs. 1) and for measurements by two different observers the ICC was 0.74. The mean PFSR was 0.76 ± 0.40 and the intraobserver LOAs were −0.372 to 0.395 (obs. 1) and −0.555 to 0.667 (obs. 2). For PFSR measurements by the same observer the ICC was 0.89 (obs. 1) and for measurements by two different observers the ICC was 0.65. Among aneuploid fetuses, IFA was below the normal range in one third of the cases with trisomy 18. PFSR was below the 95% prediction limit in 16.2% of fetuses with trisomy 21% and 17.9% of fetuses with trisomy 18. Conclusion IFA can be reliably measured in 2D ultrasound images in the first trimester of pregnancy with a high interobserver agreement and may provide information about retrognathia associated with various syndromes and aneuploidies at early stages of pregnancy.

scholarly journals Retronasal triangle: a sonographic landmark for the screening of cleft palate in the first trimester

2010 ◽  
Vol 35 (1) ◽  
pp. 7-13 ◽  
Author(s):  
W. Sepulveda ◽  
A. E. Wong ◽  
P. Martinez-Ten ◽  
J. Perez-Pedregosa
Keyword(s):  
Cleft Palate ◽  
First Trimester ◽  
Retronasal Triangle

Prevention of Orofacial Clefts: Does Pregnancy Planning Have a Role?

2007 ◽  
Vol 44 (3) ◽  
pp. 244-250 ◽  
Author(s):  
Peter A. Mossey ◽  
Janet A. Davies ◽  
Julian Little
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Unplanned Pregnancy ◽  
First Trimester ◽  
Inverse Association ◽  
Orofacial Cleft ◽  
Orofacial Clefts ◽  
Pregnancy Planning ◽  
The United Kingdom ◽  
First Trimester Of Pregnancy

Objective: To investigate the association between pregnancy planning and orofacial clefts in the United Kingdom. Design: Case–control study. Setting: Scotland and the Manchester and Merseyside regions of England. Participants: One hundred and ninety-one children born with nonsyndromic orofacial cleft, 1997 to 2000, and 247 controls. Main outcome measure: Cleft lip with and without cleft palate, and cleft palate. Results: There was an inverse association between planning for pregnancy and orofacial cleft in the offspring (odds ratio [OR] = 0.51, 95% confidence interval [CI] = 0.33–0.79). An unplanned pregnancy together with smoking in the first trimester of pregnancy resulted in almost treble the risk of a child with an orofacial cleft when compared with those who planned their pregnancy and did not smoke (OR = 2.92, CI = 1.50–5.65). Conclusions: Planned pregnancies were associated with a lower risk of orofacial clefts. Isolation of the elements of pregnancy planning implicated in these results is difficult. Current preconception advice needs to reach a wider audience; however, for maximum impact, efforts are needed to reduce the numbers of unplanned pregnancies.

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 First trimester exposure to ambient gaseous air pollutants and risk of orofacial clefts: a case–control study in Changsha, China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wen Jiang ◽  
Wanqin Xie ◽  
Bin Ni ◽  
Haiyan Zhou ◽  
Zhiyu Liu ◽  
...  
Keyword(s):  
Particulate Matter ◽  
Cleft Palate ◽  
Air Pollutants ◽  
Cleft Lip ◽  
Case Control Study ◽  
First Trimester ◽  
Case Control ◽  
Orofacial Clefts ◽  
First Trimester Of Pregnancy ◽  
Control Study

Abstract Background A growing body of studies have investigated the association between air pollution exposure during early pregnancy and the risk of orofacial clefts, but these studies put more emphasis on particulate matter and reported inconsistent results, while research on the independent effects of gaseous air pollutants on orofacial clefts has been quite inadequate, especially in China. Methods A case–control study was conducted in Changsha, China from 2015 to 2018. A total of 446 cases and 4460 controls were included in the study. Daily concentrations of CO, NO2, SO2, O3, PM2.5 and PM10 during the first trimester of pregnancy were assigned to each subject using the nearest monitoring station method. Multivariate logistic regression models were applied to evaluate the associations of monthly average exposure to gaseous air pollutants with orofacial clefts and its subtypes before and after adjusting for particulate matter. Variance inflation factors (VIFs) were used to determine if the effects of gaseous air pollutants could be independent of particulate matter. Results Increase in CO, NO2 and SO2 significantly increased the risk of cleft lip with or without cleft palate (CL/P) in all months during the first trimester of pregnancy, with aORs ranging from 1.39 to 1.48, from 1.35 to 1.61 and from 1.22 to 1.35, respectively. The risk of cleft palate only (CPO) increased with increasing NO2 exposure levels in the first trimester of pregnancy, with aORs ranging from 1.60 to 1.66. These effects sustained and even exacerbated after adjusting for particulate matter. No significant effect of O3 was observed. Conclusions Our study suggested that maternal exposure to CO, NO2, and SO2 during the first trimester of pregnancy might contribute to the development of orofacial clefts, and the associations were potentially independent of particulate matter.

scholarly journals Maternal cigarette smoking before or during pregnancy increases the risk of birth congenital anomalies: a population-based retrospective cohort study of 12 million mother-infant pairs

BMC Medicine ◽  
2022 ◽  
Vol 20 (1) ◽  
Author(s):  
Lili Yang ◽  
Huan Wang ◽  
Liu Yang ◽  
Min Zhao ◽  
Yajun Guo ◽  
...  
Keyword(s):  
Cigarette Smoking ◽  
Cleft Palate ◽  
Congenital Anomalies ◽  
Maternal Smoking ◽  
Cleft Lip ◽  
First Trimester ◽  
Vital Statistics ◽  
Third Trimester ◽  
Maternal Cigarette Smoking ◽  
Increased Risk

Abstract Background The associations of maternal cigarette smoking with congenital anomalies in offspring have been inconsistent. This study aimed to clarify the associations of the timing and intensity of maternal cigarette smoking with 12 subtypes of birth congenital anomalies based on a nationwide large birth cohort in the USA. Methods We used nationwide birth certificate data from the US National Vital Statistics System during 2016–2019. Women reported the average daily number of cigarettes they consumed 3 months before pregnancy and in each subsequent trimester during pregnancy. Twelve subtypes of congenital anomalies were identified in medical records. Poisson regression analysis was used to estimate the risk ratios (RRs) with 95% confidence intervals (CIs) for 12 subtypes of congenital anomalies associated with the timing (i.e., before pregnancy, and during three different trimesters of pregnancy) and intensity (i.e., number of cigarettes consumed per day) of maternal cigarette smoking. Results Among the 12,144,972 women included, 9.3% smoked before pregnancy and 7.0%, 6.0%, and 5.7% in the first, second, and third trimester, respectively. Maternal smoking before or during pregnancy significantly increased the risk of six subtypes of birth congenital anomalies (i.e., congenital diaphragmatic hernia, gastroschisis, limb reduction defect, cleft lip with or without cleft palate, cleft palate alone, and hypospadias), even as low as 1–5 cigarettes per day. The adjusted RRs (95% CIs) for overall birth congenital anomalies (defined as having any one of the congenital malformations above significantly associated with maternal cigarette smoking) among women who smoked 1–5, 6–10, and ≥ 11 cigarettes per day before pregnancy were 1.31 (1.22–1.41), 1.25 (1.17–1.33), and 1.35 (1.28–1.43), respectively. Corresponding values were 1.23 (1.14–1.33), 1.33 (1.24–1.42), 1.33 (1.23–1.43), respectively, for women who smoked cigarettes in the first trimester; 1.32 (1.21–1.44), 1.36 (1.26–1.47), and 1.38 (1.23–1.54), respectively, for women who smoked cigarettes in the second trimester; and 1.33 (1.22–1.44), 1.35 (1.24–1.47), and 1.35 (1.19–1.52), respectively, for women who smoked cigarettes in the third trimester. Compared with women who kept smoking before and throughout pregnancy, women who never smoked had significantly lower risk of congenital anomalies (RR 0.77, 95% CI 0.73–0.81), but women who smoked before pregnancy and quitted during each trimester of pregnancy had no reduced risk (all P > 0.05). Conclusions Maternal smoking before or during pregnancy increased the risk of several birth congenital anomalies, even as low as 1–5 cigarettes per day. Maternal smokers who stopped smoking in the subsequent trimesters of pregnancy were still at an increased risk of birth congenital anomalies. Our findings highlighted that smoking cessation interventions should be implemented before pregnancy.

Sign in / Sign up

Export Citation Format

Share Document