[Fetal diaphragmatic hernia. Clinical and prognostic considerations and early diagnosis]. / Ernia diaframmatica fetale. Considerazioni clinico-prognostiche e diagnosi precoce.

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.

[Cysts of the choroid plexus: personal experience]. / Cisti dei plessi corioidei. Nostra esperienza.

Twenty-six cases of fetal choroid plexus cysts were diagnosed using ultrasonography at the Ultrasound Out-patients clinic of the University of Turin during the period 1989-1991. In 21 of these cases fetal karyotype was ascertained since, as has been reported in the literature, cysts of the choroid plexus may be associated with an anomalous karyotype (trisome 18 or 21). One of the 21 cases had an altered karyotype (trisome 21) (4.2%). The Authors stress the importance of a detailed ultrasound study of fetal morphology since, in the presence of structural anomalies, the incidence of trisome 18 is much higher. On the basis of these data, prenatal diagnosis in the event of the echographic presence of choroid plexus cysts appears to be valid since the risk of chromosome anomalies is much higher than in 35-year-old women.