Aténé Simonyi

By Artúr Beke and Aténé Simonyi

Currently, noninvasive intrauterine screening for most chromosome abnormalities is available, but ultrasound examinations also play an important role during pregnancy, by drawing the attention to the suspect of a possible abnormality. Fetal ultrasound disorders can be classified into two major groups: (1) Major abnormalities are actually diagnosed malformations that are often associated with certain chromosome abnormalities but may be associated with other disorders (multiplex malformation) and may occur as isolated disorders (e.g., cardiac disorders, duodenal atresia, omphalocele, cystic hygroma (CH)). (2) Minor anomalies (“soft markers”) are not abnormal in themselves but are mild abnormalities that may occur in normal pregnancy but also increase the risk of certain chromosome aberrations. The minor anomalies in the second trimester include thickened nuchal fold (NF), mild ventriculomegaly, pyelectasis, hyperechogenic bowels, hyperechogenic papillary muscle, and shorter long bones. Plexus choroid cyst which is classified as a minor marker does not increase the risk of Down syndrome but increases the risk of trisomy 18 (Edwards syndrome). We want to emphasize the importance of screening of minor and major ultrasound abnormalities in detecting chromosomal abnormalities in the second trimester.

Part of the book: Chromosomal Abnormalities

By Artur Beke, Virág Bartek and Aténé Simonyi

The chapter discusses the aetiology and diagnostics of each fetal craniospinal disorder, particularly neural tube defects, ventriculomegaly, Dandy-Walker and Arnold-Chiari malformation, corpus callosum dysgenesis, iniencephaly, holoprosencephaly, microcephaly and kinked-brainstem. We aimed to highlight the usual ultrasound findings and genetic testing options.

Part of the book: Ectopic Pregnancy and Prenatal Diagnosis