Fetal diaphragmatic hernia depends on a retarded closing during the first trimester of pregnancy of embryological structures in the chest that lead to the formation of diaphragmatic muscle. The defect occurs in form 1:2,000 to 1:5,000 livebirths and it is associated with other structural abnormalities (neural tube defects, cleft lip/palate, omphalocele, cardiopathy, etc). In 20% of cases it is associated with a chromosomal syndrome. Antenatal ultrasonic diagnosis has been reported, at 18-40 weeks of pregnancy. We describe a case of early diagnosis, at 17 weeks of pregnancy, of fetal diaphragmatic hernia by ultrasound. Plexus choroid cysts were detected too and fetal karyotyping resulted 47XX + 18. Prognosis of pregnancy in all cases of fetal diaphragmatic hernia is poor because fetal and neonatal losses are very heavy.
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