Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes

Arteaga‐Vázquez, Jazmín; Luna‐Muñoz, Leonora; Mutchinick, Osvaldo M.

doi:10.1590/s0036-36342012000600006

Cited by 4 publications

(3 citation statements)

References 30 publications

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“…Other authors implicate intra-uterine infection with TORCH organisms as causes for microphthalmia [ 7 , 18 ]. The known environmental causes include alcohol, thalidomide, vitamin A deficiency, and hydantoin [ 1 , 19 , 20 ].…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports

et al. 2018

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BackgroundMicrophthalmia and anophthalmia are rare congenital fetal abnormalities. The combined incidence is estimated at 1 in 10,000 births. These two conditions arise from complex and incompletely understood genetic and/or environmental causes. Prenatal diagnosis is neither frequent nor easy and relies on precise, high-quality ultrasonography. Current antenatal ultrasound protocols for imaging of the fetal eye are inconsistent and inadequate to screen for the spectrum of ocular malformations, and there are no clear guidelines on detection of these rare abnormalities. Our study of two cases highlights the importance of early detection, and we review current practice and suggest a definitive fetal imaging protocol.Case presentationWe present two antenatal cases, one each of microphthalmia and anophthalmia, both diagnosed at the morphology scan at our tertiary fetal medicine unit. In both cases, the parents (a 36-year-old woman of Mauritanian ethnicity and a non-consanguineous partner of Nepalese descent, and a 31-year-old Caucasian woman and non-consanguineous Caucasian partner) elected to terminate their pregnancies and made unremarkable recoveries. Subsequent fetal autopsy confirmed the ultrasound scan findings.ConclusionsWe recommend that antenatal ultrasound guidelines are updated to specify use of a curvilinear transducer (2–9 MHz) to image both orbits in the axial and coronal planes, aided by use of a transvaginal probe when the transabdominal approach is inadequate to generate these images. When applicable, three-dimensional reverse-face imaging should be obtained to aid the diagnosis. The presence, absence, or non-visualization of lenses and hyaloid arteries should be documented in reports and these cases referred for a tertiary-level ultrasound scan and fetal medicine review. Imaging of the orbits should occur from 12 weeks’ gestation. Magnetic resonance imaging and amniocentesis with chromosome microarray testing may provide additional genetic and structural information that may affect the overall morbidity associated with a diagnosis of microphthalmia or anophthalmia.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports

et al. 2018

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“…El efecto protector de la suplementación de ácido fólico para la prevención de las fisuras orales ha sido informado en algunos estudios, incluso a dosis altas (16,17). La epilepsia y los anticonvulsivantes se han identificado como factores para las malformaciones congénitas, entre ellas, las orofaciales (18). La altura sobre el nivel del mar es otro factor mencionado en la literatura (19) .…”

Section: Discussionunclassified

“…Las publicaciones nacionales describen una prevalencia mayor, 1 por 500-700 nacimientos, mientras que la literatura internacional la describe en 1 por 1.000, (3,18,23,24). Otras ciudades en Colombia han publicado su experiencia con programas similares (24)(25)(26)(27).…”

Section: Discussionunclassified

Caracterización de niños operados por labio y paladar hendido en la Orinoquía Colombiana entre 2008 y 2014

Devia¹,

Vacca²,

Pérez-Gutiérrez³

et al. 2017

rev. investig. andin.

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La patología congénita de niños con labio y paladar hendido es frecuente en la región, pero no ha sido caracterizada en la Orinoquía. El objetivo de este estudio fue describir las características de los niños intervenidos en un programa quirúrgico de labio y paladar hendido en Villavicencio. Tipo de estudio: Corte transversal descriptivo. Criterios de inclusión: menores de 18 años operados por labio y paladar hendido. Escenario: Hospital Departamental de Villavicencio, Colombia.

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Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child

Weston

Bromley

Jackson

et al. 2016

Cochrane Database of Systematic Reviews

216

279

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Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes

Abstract: Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

Cited by 4 publications

References 30 publications

Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports

Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports

Caracterización de niños operados por labio y paladar hendido en la Orinoquía Colombiana entre 2008 y 2014

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child

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