Tratamento das malformações fetais intraútero

Abstract

About 1% of all pregnancies present structural anomalies. During the last three decades, various experimental studies in large animals, associated with the technological advance of diagnostic imaging and fetoscopy equipment, have led to great progress in the knowledge of the pathophysiology of various congenital defects. Such knowledge applied to intrauterine correction of abnormalities has transformed the natural history of several previously fatal diseases, leading to a considerable number of survivors. Fetal intervention, such as open fetal surgery, may be indicated in meningomyelocele or in congenital cystic adenomatoid malformation, and in sacrococcygeal teratoma, which lead to secondary fetal hydropsy. Besides, minimally invasive procedures using fetoscopy may have application in congenital diaphragmatic hernia, in feto-fetal transfusion, in twin pregnancies with an acardiac fetus, in the posterior urethral valve, and in hypoplasia of the cardiac chambers, with good results. Even though open fetal surgery and minimally invasive procedures are still experimental and still need to be fully validated, a correct echographic diagnosis and the patient's referral to tertiary centers providing multidisciplinary fetal care contribute to the survival of fetuses with congenital diseases of usually fatal evolution.

Estudo Das Anomalias Cromossômicas Ocorridas Em Uma Maternidade Nos Anos De 2010 a 2014

“…Entre as trissomias mais frequentes observadas ao nascimento, podemos observar a Síndrome de Down (trissomia do cromossomo 21), precedida pela Síndrome de Edwards (trissomia do 18) (7) . O avanço da genética, nas últimas décadas, permitiu novas descobertas em relação às diversas doenças genéticas.…”