Introduction : World statistics show that neural tube defects (NTDs) rank foremost among congenital malformations. In 2002, the first gene of craniorachischisis was found - the Vangl 2 gene. It was found by a cloning loop - tail (LT) gene for the defective closure of the neural tube.
Objective : To epidemiologically characterize the complete spinal dysraphisms: rachishisis, craniorachishisis and iniencephaly.
Materials and Methods : Thirty-three fetuses with complete spinal dysraphisms were examined during the period 2006-2009 at the Center for Maternity and Neonatology - Tunisia. The fetuses were the result of pregnancy terminations for medical reasons, intrauterine fetal death, and spontaneous abortions.
Results : Ten (30.3%), eleven (33.3%) and twelve (36.4%) of the fetuses were respectively carriers of rachischisis, craniorachischisis and iniencephaly. Almost half of the fetuses were from first pregnancy mothers. The deviation in the amount of amniotic fluid (oligoamnios) is an important endogenous risk factor. Exogenous risk factors are the time of conception (seasons) and endemic areas. Consanguinity is also a positive risk factor in 23% of fetuses with complete spinal dysraphisms. A mother`s blood type A+ is the most common for the group (46.2%).
Conclusion : Preceding births of fetuses with complete spinal dysraphisms should motivate obstetricians to explore with caution each following pregnancy. The diagnosis of complete spinal dysraphisms is possible by biochemical tests, ultrasound (12, 22 weeks), MRI and genetic testing. Evidence of a malformation should be followed by the termination of the pregnancy.
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