Dorsolumbosacral agenesis: Case report and literature review

Abstract

Objetives: To report a case of dorsolumbosacral agenesis and to make a systematic review of the literature focused on prenatal diagnosis. Materials and methods: We report a case of a 32year old pregnant woman, with a 30 week pregnanacy, without prenatal care, the fetus is diagnosed with dorsolumbosacral agenesis. The mother request voluntary termination of pregnancy. A systematic review of the literature focused on prenatal diagnosis of thos condiction is performed. Results: We found 50 papers, 6 met the inclusión critiria. Three of them with prenatal diagnosis. In the first case the diagnosis was made at 13 weeks of gestation and termination of preganancy was requested. In the second case corresponded an biamniotic bicorial twin preganancy. One normal feto and one presented dorsolumbosacral agenesis. The diagnosis was made in the second trimester. The pregnancy continued until 34 week of gestation and the affected neonate had perinatal death. The third case, the diagnosis was made at 18 weeks and a male newborn of 2990gr was born at 37 weeks of gestation. Conclusion: Dorsolumbosacral agenesis is a very severe form of caudal regresión syndrome, with only a few cases reportted in the literature. To the best of our knowladge this is the fourth case reported with prenatal diagnosis.