Clinical Case Anencephaly Caused by Folate Deficiency - Two Case Reports and Review of the Literature

Anencephaly represents a severe defect of development of the neuraxis, in which the developing forebrain and variable amounts of the brainstem are exposed in utero and fail to develop or are destroyed. Patient SM, 27 years of age, referred to our clinic for obstetrical ultrasound. The patient had no previous ultrasound examination in the current pregnancy. At the presentation time, the pregnancy age established by ultrasound was of 13 weeks of gestation. The fetal medicine specialist concluded that the fetus had anencephaly. The couple decided the termination of pregnancy. Patient PC came to our hospital for prenatal care. The first ultrasound examination was performed at 10 weeks of pregnancy. The fetal-medicine specialist identified the same severe cranial malformation as in the previous case: anencephaly. The peculiarity of this case was the early ultrasound diagnosis. The question that arises from the two situations is: why anencephaly? The answer for both cases may be: folate deficiency. Both mothers didn’t receive any folate supliment before conception or during pregnancy. Ultrasound is the gold standard for anencephaly diagnosis. Prenatal detection was followed by termination of the pregnancy. The main cause of anencephaly could be folate deficiency for both cases.