We studied the effectiveness of pre- and postnatal diagnostics of microcephaly in Lviv region population in order to optimize the revealing of the 657del5 NBN gene mutation’s carriers. During 2001–2006, in course of selective screening of pregnant women with high risk of congenital anomalies of fetus development, 30 cases of microcephaly were diagnosed. It corresponded to 4,1 % of all diagnosed malformations of the central nervous system and 0.06 % of all conducted examinations. Every year in high-risk pregnant women group we revealed from 4 to 8 MC cases, most of them (70–75 %) in terms after 28 weeks of pregnancy. Ultrasound screening of pregnant women is an effective tool of early diagnosis of microcephaly, which enables the pre-delivery revealing of children needing special diagnostics of theNijmegensyndrome.
