Diagnóstico prenatal de un caso de trisomía 8 mosaico, asociado a la existencia de un quiste unilateral de plexos coroideos

Abstract

We report a case of trisomy 8 mosaicism, diagnosed by FISH (fluorescent in situ hibridization) after 18 week pregnancy amniocentesis, in a patient whose ultrasound scan showed a unilateral choroid plexus cyst and placental haemangioma.We assessed the foetopathological examination, comparing it with different cases of total and partial trisomies of chromosome 8, paying special attention to the relationship between choroid plexus cyst and chromosomopathies.