Resumo

CABRERA, María del Carmen; ORTIZ, Gustavo; ALFONSO E, Orlando  e  ESTECHE, Rosana. Edwards’ syndrome: from prenatal diagnosis to the neonatologist. Pediatr. (Asunción) [online]. 2021, vol.48, n.3, pp.216-220. ISSN 1683-9803.  https://doi.org/10.31698/ped.48032021010.

Edwards’ syndrome, or trisomy 18 syndrome, is an autosomal chromosomal disorder characterized by the presence of an extra chromosome 18, with distinctive clinical features. We present a case with a prenatal diagnosis based on obstetrical morphological ultrasound that led to the performance of a fetal echocardiography with findings of a pulmonary valve dysplasia with double injury and interventricular communication. Subsequently, cordocentesis is performed for karyotyping and genetic counseling.

Palavras-chave : Edwards syndrome; obstetric ultrasound; fetal echocardiography; congenital heart disease; karyotype.

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