Asesoramiento genético: Echogenic Bowel

· Echogenic Bowel Contents 1 Qué es? 2 What does it mean? 3 ¿Cuáles son los riesgos?? 4 What should be done? 5 Referencia 6 Notes What is it? cuando, on ultrasound, the fetus' bowel appears to have more echogenicity than the liver, or similar or greater echogenicity than the surrounding bone can be a transient feature What does it mean? most likely etiology is intra-amniotic bleeding and swallowing of the stained fluid by the fetus, followed by its accumulation within the meconium can be indicative of a chromosome abnormality (p. ej.., Síndrome de Down, Cystic Fibrosis) is most often a non-specific finding (seen in fetuses with intestinal obstruction/blockage, congenital cytomegalovirus infection, growth restriction) has been reported as a normal variant during the second trimester can also be indicative of early ascites, fetal hypoxia, placental insufficiency, and meconium peritonitis What are the risks? the risk of Down Syndrome in fetuses with isolated hyperechogenic bowel is 1.4% en "high risk" mujeres (abnormal MSAFP screen, family history of Cystic Fibrosis, and/or AMA), echogenic bowel is associated with: Cystic Fibrosis in 3% of fetuses chromosome abnormalities in 12.4% of fetuses (most data has been collected from this high risk group) 12.5% of fetuses with Down Syndrome have been reported to have echogenic bowel the only abnormal ultrasound finding in 41% of these cases chromosomal abnormalities are more often diagnosed when there are findings in addition to hyperechogenic bowel (multiple abnormalities) What should be done? future ultrasounds should be performed to determine if the finding is transient all women with this ultrasound finding should undergo a fetal karyotype, parental CF mutation studies, and assessment of the presence of a congenital infection Reference Genetic Disorders and the Fetus. 4th Edition Ed. Aubrey Milunsky. 1998 Notas La información de este esquema se actualizó por última vez en 2002. Este material ha sido importado de Wikilibros. "Asesoramiento genético"[ HTTP://en.wikibooks.org/wiki/Genetic_counseling] bajo la Licencia de Documentación Libre GNU. Se concede permiso para copiar, distribuir y/o modificar este documento bajo los términos de la Licencia de Documentación Libre GNU, Versión 1.2 o cualquier versión posterior publicada por la Free Software Foundation; sin secciones invariantes, sin textos de portada, y sin textos de contraportada. Se incluye una copia de la licencia en la sección titulada "Licencia de documentación libre GNU."

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