Selected Midline Defect Associations: A Population Study

PEDIATRICS ◽  
1989 ◽  
Vol 84 (2) ◽  
pp. 266-272
Author(s):  
Muin J. Khoury ◽  
José F. Cordero ◽  
Joseph Mulinare ◽  
John M. Opitz
Keyword(s):  
Cleft Palate ◽  
Esophageal Atresia ◽  
Diaphragmatic Hernia ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Imperforate Anus ◽  
Tracheoesophageal Fistula ◽  
Congenital Defects ◽  
Midline Defect ◽  
Midline Defects

Using data from the population-based Metropolitan Atlanta Congenital Defects Program, the association of seven relatively common and easily ascertainable groups of midline defects was studied. These defects were neural tube defects (575 patients), oral clefts (633 patients), omphalocele (141 patients), esophageal atresia/tracheoesophageal fistula (88 patients), imperforate anus (151 patients), conotruncal heart defects (289 patients), and diaphragmatic hernia (75 patients). Known syndromes were excluded from the analysis. Of 1743 infants with at least one midline defect, 86 (4.9%) had at least a second midline defect, and 9 (0.5%) had two additional midline defects. Pairwise analysis of the seven defects shows that, although most midline defects tend to be statistically associated with other midline defects, specific combinations of midline defects are seen. For example, neural tube defects are more strongly associated with cleft lip with or without cleft palate than with cleft palate alone; imperforate anus is more strongly associated with spina bifida than with anencephaly or encephalocele. Moreover, some combinations of defects are not observed (eg, neural tube defect and conotruncal heart defect, clefts and diaphragmatic hernia, omphalocele and esophageal atresia/tracheoesophageal fistula). These data point to the need for further refinement in the study of the association of midline defects in terms of embryologic and pathogenetic mechanisms because most midline defects tend to occur as an isolated defect, some midline defects occur with nonmidline defects (such as limb defects), and specific associations among midline defects are observed.

Demographic factors and associated anomalies in fetuses with neural tube defects

Pteridines ◽  
2013 ◽  
Vol 24 (3) ◽  
pp. 257-263 ◽  
Author(s):  
Tanya Kitova ◽  
Denis Milkov ◽  
Borislav Kitov ◽  
Kristina Kilova ◽  
Soumeya Gaigi
Keyword(s):  
Relative Risk ◽  
Cleft Palate ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Maternal Age ◽  
Winter Period ◽  
Intrauterine Growth ◽  
Facial Shape ◽  
Adrenal Hypoplasia ◽  
Mother’S Age

AbstractThe aim of this study was to identify the types of abnormalities associated with neural tube defects (NTDs) and the magnitude of the risk for their expression under the influence of the following factors: maternal age >35 years, consanguinity and season of conception. One hundred and fifty fetuses were autopsied during the period 2006–2009 at the Center for Maternity and Neonatology, Tunisia. A mother’s age of >35 years increases the probability of intrauterine growth retardation by two-fold [odds ratio (OR) 2.043, confidence interval (CI) 0.880–4.741]. Consanguinity increases the relative risk for abnormalities in the facial shape (OR 3.031, CI 1.279–7.183) and adrenal hypoplasia (OR=2.787, CI 1.140–6.814). The autumn-winter period of conception increases the relative risk for the expression of cleft palate by more than nine times (OR 9.035, CI 1.161–70.258) and by about three times for abnormalities of the excretory tract (OR 2.935, CI 0.954–9.141). The prenatal ultrasound diagnosis of NTDs with risk factors such as maternal age >35 years, consanguinity and conception during the autumn-winter period should be targeted to the search for lower-than-normal fetal weight and abnormalities of the excretory tract and the adrenal glands. The head should be examined with special care for deviations in the cranial perimeter and cleft palate.

scholarly journals Prevalence of congenital defects including selected neural tube defects in Nepal: results from a health survey

2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Shiva Bhandari ◽  
Jamuna Tamrakar Sayami ◽  
Ricky Raj K.C. ◽  
Megha Raj Banjara
Keyword(s):  
Health Survey ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Defects

scholarly journals Somatic and de novo Germline Variants of MEDs in Human Neural Tube Defects

2021 ◽  
Vol 9 ◽  
Author(s):  
Tian Tian ◽  
Xuanye Cao ◽  
Yongyan Chen ◽  
Lei Jin ◽  
Zhiwen Li ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
De Novo ◽  
Wnt Signaling Pathway ◽  
Vital Role ◽  
Congenital Defects ◽  
Lesion Site ◽  
Functional Studies ◽  
Functional Variants ◽  
Cell Assays

BackgroundNeural tube defects (NTDs) are among the most common and severe congenital defects in humans. Their genetic etiology is complex and remains poorly understood. The Mediator complex (MED) plays a vital role in neural tube development in animal models. However, no studies have yet examined the role of its human homolog in the etiology of NTDs.MethodsIn this study, 48 pairs of neural lesion site and umbilical cord tissues from NTD and 21 case-parent trios were involved in screening for NTD-related somatic and germlinede novovariants. A series of functional cell assays were performed. We generated aMed12p.Arg1784Cys knock-in mouse using CRISPR/Cas9 technology to validate the human findings.ResultsOne somatic variant,MED12p.Arg1782Cys, was identified in the lesion site tissue from an NTD fetus. This variant was absent in any other normal tissue from different germ layers of the same case. In 21 case-parent trios, onede novostop-gain variant,MED13Lp.Arg1760∗, was identified. Cellular functional studies showed thatMED12p.Arg1782Cys decreased MED12 protein level and affected the regulation ofMED12on the canonical-WNT signaling pathway. TheMed12p.Arg1784Cys knock-in mouse exhibited exencephaly and spina bifida.ConclusionThese findings provide strong evidence that functional variants ofMEDgenes are associated with the etiology of some NTDs. We demonstrated a potentially important role for somatic variants in the occurrence of NTDs. Our study is the first study in which an NTD-related variant identified in humans was validated in mice using CRISPR/Cas9 technology.

scholarly journals Bajo peso al nacer y defectos congénitos en relación con sitios mineros y campos agrícolas en Sonora, México. Prevalencia 2008-2012

2016 ◽  
Author(s):  
Javier Valdés Hernández ◽  
Aldelmo Eloy Reyes Pablo ◽  
Eduardo Navarrete Hernández ◽  
Sonia Canún Serrano
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Environmental Pollution ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Defects ◽  
Agricultural Fields ◽  
Metal Mining ◽  
Mining Sites ◽  
Irrigation Districts

Resumen: existen evidencias de contaminación ambiental debido a minas y campos agrícolas en Sonora, México. El objetivo de este trabajo es estudiar espacialmente la prevalencia de los defectos al nacimiento, los del tubo neural y el bajo peso al nacer en los municipios donde hay minas de metales y en los distritos de riego. Para ello se emplearon las bases de datos de nacimiento y muerte fetal de 2008 a 2012. Se estimaron tasas de prevalencia nacional, estatal, municipal y por localidad. Se utilizó información georreferenciada del país y los estados, de localidades, ríos, distritos de riego, minas de metales y subcuencas hidrológicas de Sonora. Se encontró que las prevalencias están asociadas con los lugares donde se concentran las actividades económicas y los problemas de contaminación ambiental. Los resultados hacen suponer la probable influencia de estos últimos en la prevalencia de los defectos mencionados y el bajo peso al nacer en todo el estado.Palabras clave: defectos congénitos; defectos del tubo neural; bajo peso al nacer; contaminación ambiental; subcuencas hidrológicas de Sonora; Río Sonora; distritos de riego sonorenses.Low birth weight and congenital defects in connection with mine sites and agricultural fields in Sonora, Mexico. 2008-2012 prevalenceAbstract: there is evidence of environmental contamination due to mines and agricultural fields in Sonora, Mexico. Objective: to spatially study the prevalence of birth defects (bd), neural tube defects (ntd) and low birth weight (lbw) in municipalities in connection with metal mining sites and irrigation districts. Material and methods: databases of birth and stillbirth from 2008 to 2012 were used. Rates of national, state, municipal and local prevalence were estimated. Georeferenced information of the country and, in addition, states cities, rivers, irrigation districts, metal mines and hydrological sub-basins of Sonora was used. Results: prevalences are associated spatially with places where economic activities and environmental pollution problems are concentrated. Conclusions: results suggest the likely influence of environmental pollution in the prevalence of bd, ntd and lbw across the state.Key words: congenital defects; neural tube defects; low birth weight; environmental pollution; Sonora’s hydrological sub-basins; Sonora River; sonoran irrigation districts.

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