Thirty cases of cervical cystic hygroma were diagnosed in the first trimester of pregnancy. Karyotype analysis was available in 29 (97 per cent). Fifteen (52 per cent) had a chromosomal abnormality. The ultrasound appearance was described as posterior cervical, lateral cervical, or cervical hygroma with hydrops. Of the 14 euploid embryos, six were electively aborted, two are undelivered, and six have been delivered as phenotypically normal infants. In cases in which the chromosomes were normal and the pregnancy continued, all lesions resolved by 18 weeks.
The pathogenesis of the prune belly syndrome is unclear. The proposed etiologies include a distal obstructive uropathy or a mesodermal defect of the anterior abdominal wall and urinary tract. Detection of increased intravesicular pressure might identify those fetuses with an obstructive etiology who, therefore, would benefit from shunting.
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