Risk factors associated with congenital defects that alter hearing or vision in children born in the city of Bogotá between 2002 and 2016.

INTRODUCTION: Congenital defects affecting the auditory and visual capacity of newborns represent a public health problem as they result in substantial disability, directly impacting the quality of life of newborns and their families. OBJECTIVE: To evaluate risk factors associated with congenital defects that alter hearing or vision in newborns in the city of Bogotá between 2002 and 2016. METHOD: Data from the Bogotá Birth Defects Surveillance and Follow-up Program was used, which consolidated data regarding 167 ECLAMC study (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, in spanish) variables in a case-control design to identify risk factors for birth defects after parents provided signed informed consent. Cases were defined as any newborn (alive or stillborn) with a weight greater than 500 g with any visual or hearing abnormality. Controls were defined as newborn in the same hospital and month with no birth defects. Groups were formed according to the case presentation as follows: isolated eye anomaly, isolated ear anomaly, polymalformative, syndromic, and teratogenic. RESULTS: In total, 402,657 births were reviewed, of which 968 cases had some congenital defects that alter hearing or vision. An association was found between the presence of defects and prematurity, as well as between syndromic cases and increasing maternal age. When comparing cases and controls with the risk of having a birth defect, multiparity had an odds ratio (OR) of 1.47 (95% CI: 1.27-1.71), acute respiratory infection had an OR of 2.41 (95% CI: 1.04-5.58), low maternal education level had an OR of 1.34 (95% CI:1.10-1.62), low paternal education had an OR of 1.42, (95% CI:1.17-1.73), manual labor in the maternal occupation had an OR of 1.31 (95% CI:1.03-1.67), and a history of congenital anomalies in the family had an OR of 1.55 (95% CI:1.19-2.00). CONCLUSION: This research allowed the identification of epidemiological data and significant risk factors for congenital defects that alter hearing or vision in the population of Bogotá.

Increased tissue factor and thrombomodulin expression and histopathological changes in placentas of pregnancies with preeclampsia.

INTRODUCTION: Preeclampsia has a global frequency of 2-8% and a frequency of 10% in developing countries. In Colombia, preeclampsia causes 42% of maternal mortality. Alterations in placental homeostasis have been proposed to be involved in its pathophysiology. The aim of this study was to compare mRNA and protein levels of tissue factor (F3) and thrombomodulin (THBD) and the histopathological findings of placentas. MATERIALS AND METHODS: We studied 16 placentas from patients with preeclampsia and 19 term placentas with uncomplicated pregnancy. An expert pathologist, who was masked to the group assignment, conducted an evaluation to determine specific histological changes. Assessments of mRNA and protein levels of F3 and THBD were performed using real-time PCR and ELISA, respectively. RESULTS: Cases and controls differed in the frequency of decidual arteriopathy (p = 0.027), acute infarction (p = 0.001) and hyperplasia of the syncytiotrophoblast (p = 0.0017). Cases had increased levels of F3 mRNA (p = 0.0124) and protein (p <  0.0001) and THBD mRNA (p <  0.0001) and protein (p <  0.0001). CONCLUSION: In placenta of patients with preeclampsia, we detected abnormal expression of F3 and THBD with increased protein and mRNA levels. The role of these molecules in the pathogenesis of this disease and in alterations of hemostatic and histopathological aspects of placentas need further studying.

Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with Down syndrome.

UNLABELLED: Down syndrome is the most frequent aneuploidy in live births, with an overall frequency of 1/600-700 births. The overexpression of cystathionine ß-synthase is thought to participate in the presentation of some phenotypes observed in Down syndrome. OBJECTIVE: The aim of this study was to compare the expression levels of cystathionine ß-synthase and histopathological observations from placentas of infants with Down syndrome and healthy newborns. MATERIALS AND METHODS: Six placentas of fetuses/infants with Down syndrome and sixteen placentas of healthy fetuses were studied. Cystathionine ß-synthase mRNA and protein expression were performed by real-time PCR and immunohistochemistry, respectively. RESULTS: We observed an increase in cystathionine ß-synthase mRNA expression (p = 0.0465) and protein levels (p = 0.009) in placentas of fetus/infants with Down syndrome compared with controls. Significantly more circinate edges (p = 0.0007) and trophoblast inclusions (p = 0.0037) were observed in the group with Down syndrome compared with control group. CONCLUSION: The results demonstrate overexpression of cystathionine ß-synthase mRNA and protein in placentas of fetuses/infants with trisomy 21. Further histological abnormalities were found in placentas of patients with Down syndrome, suggesting an alteration in the development of placenta.

Detección de ácidos nucleicos fetales en plasma materno: hacia un diagnóstico prenatal no invasivo / Detection of fetal nucleic acids in maternal plasma: toward a non-invasive prenatal diagnosis

A partir del descubrimiento de la presencia de ácidos nucleicos fetales libres circulantes en el plasma materno se ha generado un gran interés sobre su origen, naturaleza y posibles usos médicos. En este artículo de revisión realizamos un amplio y conciso resumen sobre los resultados de los estudios de ADN y ARN fetal libre en plasma materno, sus perspectivas futuras, principalmente orientadas hacia el diagnóstico prenatal no invasivo, área donde se espera un impacto importante en el futuro inmediato. También se reportan resultados prometedores en la evaluación de la función placentaria y como marcadores predictores y de severidad en complicaciones del embarazo (AU)

The discovery of circulating free fetal nucleic acids in maternal plasma has sparked wide interest in their origin, characteristics and possible medical uses. This review provides a comprehensive and concise summary of the results of studies of free fetal DNA and RNA in maternal plasma and discusses future possibilities for their use, mainly aimed at non-invasive prenatal diagnosis, an area where this discovery is expected to have a major impact in the very near future. Promising results have been reported in the assessment of placental function and in the use of these nucleic acids as predictive markers of the severity of pregnancy complications (AU)