Background: Craniospinal malformations represent a heterogeneous group of congenital malformations by their morphology and etiology alike. Certain craniospinal malformations could be diagnosed as early as the dawn of ultrasonography and this group of malformations has been the focus of attention ever since.
Aims: The aim of the authors was to review the main characteristics of craniospinal malformations, as well as to evaluate the efficiency of ultrasonography based on autopsy examinations during twelve years.
Study design: The current study comprises the details of 339 pregnancies terminated by induced abortion for craniospinal malformation between 1995 and 2006.
Results: Maternal median age was 27 +/- 5.8 years, ranging from 15 to 47 years. In 24.5% of the cases, there was a positive obstetrical-gynaecological or genetic history. In 68.1% of the cases, ultrasonographic and autopsy findings were completely identical; in 24.2% a partial coincidence was found, but autopsy allowed for further diagnoses, while in 26 cases (7.7%) different findings were obtained by prenatal ultrasonography and fetopathological investigations. In half of the latter 26 cases, induced abortion was suggested due to hydrocephalus confirmed by ultrasonography but not justified by autopsy or the autopsy revealed the presence of other craniospinal malformation(s).
Conclusion: It can be concluded that--in view of the diagnostic efficiency of fetopathological investigations--the ultrasonographic diagnosis of hydrocephalus should be interpreted independently from other craniospinal malformations on the basis of principles of ultrasonographic methodology and at different times.