Malformaciones cardíacas en los niños con síndrome de Down

Figueroa, Jesús de Rubens; Magaña, Blanca del Pozzo; Hach, José Luis Pablos; Jiménez, Claudia Calderón; Urbina, Rocío Castrejón

doi:10.1016/s0300-8932(03)76978-4

Cited by 76 publications

(37 citation statements)

References 15 publications

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“…Among the small number of Hispanic male probands whose mothers took a folic acid-containing supplement, 0/42 (0%) had an AVSD compared with 14/126 (11%) whose mothers did not take a folic acid-containing supplement. Thus, the overall frequency of AVSD in Hispanic probands with DS was only 10%, similar to other reports (de Rubens Figueroa et al, 2003; Vida et al, 2005) suggesting a lower inherent risk for AVSD in the Hispanic population.…”

Section: Discussionsupporting

confidence: 89%

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: A report from the National Down Syndrome Project

Bean

Allen

Tinker

et al. 2011

Birth Defects Research Part A: Clinical and Molecular Teratolog

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BACKGROUND Maternal folic acid supplementation has been associated with a reduced risk for neural tube defects, and may be associated with a reduced risk for congenital heart defects, and other birth defects. Individuals with Down syndrome are at high risk for congenital heart defects and have been shown to have abnormal folate metabolism. METHODS As part of the population-based case-control National Down Syndrome Project, 1011 mothers of infants with Down syndrome reported their use of folic acid-containing supplements. These data were used to determine whether lack of periconceptional maternal folic acid supplementation is associated with congenital heart defects in Down syndrome. We used logistic regression to test the relationship between maternal folic acid supplementation and the frequency of specific heart defects correcting for maternal race/ethnicity, proband sex, maternal use of alcohol and cigarettes, and maternal age at conception. RESULTS Lack of maternal folic acid supplementation was more frequent among infants with Down syndrome and atrioventricular septal defects (OR=1.69; 95% CI, 1.08–2.63; P=0.011) or atrial septal defects (OR=1.69; 95% CI, 1.11–2.58; P=0.007) than among infants with Down syndrome and no heart defect. Preliminary evidence suggests that the patterns of association differ by race/ethnicity and sex of the proband. There was no statistically significant association with ventricular septal defects (OR=1.26; 95% CI, 0.85–1.87; P=0.124). CONCLUSIONS Our results suggest that lack of maternal folic acid supplementation is associated with septal defects in infants with Down syndrome.

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Section: Discussionsupporting

confidence: 89%

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: A report from the National Down Syndrome Project

Bean

Allen

Tinker

et al. 2011

Birth Defects Research Part A: Clinical and Molecular Teratolog

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“…3,[5][6][7][8][9][10][11][12][13][14][15][16][17] The types of heart defect may vary according to geographic region. In this study, the most common type was atrial septal defect, which was similar to the findings from other Table 1.…”

Section: Discussionmentioning

confidence: 99%

Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

et al. 2015

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CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the prevalence and profile of congenital heart disease among patients attended at a Down syndrome outpatient clinic in southern Brazil between 2005 and 2013. DESIGN AND SETTING: Cross-sectional study conducted in a referral center. METHODS: Data were retrospectively gathered from the medical files of 1,207 patients with Down syndrome, among whom 604 (50.0%) had been diagnosed with congenital heart disease. These data were subjected to descriptive analysis using the Statistica software. RESULTS: Among the 604 patients with congenital heart disease, 338 (55.8%) were male and 269 (44.5%) were female. The most common heart diseases were atrial septal defect in 254 patients (42.1%); total atrioventricular septal defect in 91 (15.1%); atrial septal defect and ventricular septal defect in 88 (14.6%); ventricular septal defect in 77 (12.7%); patent ductus arteriosus in 40 (6.6%); patent foramen ovale in 34 (5.6%) patients; tetralogy of Fallot in 12 (2%); and other diseases in 8 (1.3%). Pulmonary hypertension was present in 57 (9.4%). Out of the total, 150 patients (24.8%) underwent cardiac surgery. CONCLUSION: The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic (50%) was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity. RESUMO

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“…Of great clinical importance are cardiac malformations, present in 40% to 60% of the patients with T21, because they constitute in the main factors that influence the prognosis [3]. Hematologic alterations [4, 5], mental retardation [6], subnormal height, obesity [7], hearing disorders [8], ophthalmologic disorders [9], and hypothyroidism [10] can affect individuals with the trisomy.…”

Section: Introductionmentioning

confidence: 99%

Comparison of Fetal Nuchal Fold Thickness Measurements by Two- and Three-Dimensional Ultrasonography (3DXI Multislice View)

Freitas

Barros

Negrini

et al. 2012

Obstetrics and Gynecology International

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Purpose. To compare the measurements of fetal nuchal fold (NF) thickness by two-dimensional (2D) and three-dimensional (3D) ultrasonography using the three-dimensional extended imaging (3DXI). Methods. A cross-sectional study was performed with 60 healthy pregnant women with a gestational age between 16 and 20 weeks and 6 days. The 2D-NF measurements were made as the distance from the outer skull bone to the outer skin surface in the transverse axial image in the suboccipital-bregmatic plane of the head. For the 3D we employed the 3DXI multislice view software, in which 3 × 2 tomographic planes was displayed on the screen and the distance between the tomographic slices was 0.5 mm. Maximum, minimum, mean, and standard deviation were calculated for 2D and 3D ultrasonography, as well the maximum and minimum, mean, and standard deviation for the difference between both methods. The Wilcoxon signed-rank test was used to compare the two different techniques. Results. 2D-NF showed a mean of thickness of 3.52 ± 0.95 mm (1.69–7.14). The mean of 3D-NF was 3.90 ± 1.02 mm (2.13–7.72). The mean difference between the methods was 0.38 mm, with a maximum difference of 3.12 mm. Conclusion. The NF thickness measurements obtained by 3D ultrasonography were significantly larger than those detected with 2D ultrasonography.

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Malformaciones cardíacas en los niños con síndrome de Down

Cited by 76 publications

References 15 publications

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: A report from the National Down Syndrome Project

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: A report from the National Down Syndrome Project

Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

Comparison of Fetal Nuchal Fold Thickness Measurements by Two- and Three-Dimensional Ultrasonography (3DXI Multislice View)

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