Prenatal diagnosis and further clinical characteristics of spina bifida

ObjectiveTo evaluate the major clinical features of pregnancies with spina bifida as well as to examine the diagnostic efficiency of ultrasonography based on autopsy.MethodsThe investigations were made into the sample of 352 spina bifida diagnosed between 1990–2010 in the Semmelweis University.ResultsThe male: female ratio was 0.85. In 28.8% of all cases a positive obstetric, genetic or medical history was verified. The sensitivity of the maternal serum-AFP screening test was 52.1%. The majority of the cases were diagnosed before the 24th gestational week. Among the associated malformations out of the central nervous system special mentioning should be made of fetal pyelectasia, gastroschisis and pes equinovarus. The risk of recurrence was decreasing during the examined 29 years. Sonography proved to be a reliable method in diagnosing spina bifida.ConclusionThe malformation is more common among girls. Positive history is of great importance in the incidence of spina bifida. MSAFP tests are considered to be useful and necessary in screening, while sonography is the gold standard method in the diagnostics. We can confirm based on a big sample that the periconceptional administration of folic acid reduces the incidence and risk of recurrence of spina bifida.