ULTRASONOGRAPHIC MARKERS IN CHROMOSOMAL ABNORMALITIES
Sifakis S*
*Corresponding Author: Stavros Sifakis, MD, 228 Oulaf Palme Street, 71410 Heraklion, Crete, Greece; Tel.: +302810392609; Fax: +302810212915; E-mail: sifakis@excite.com
page: 31

Abstract

Many sonographically identified markers, associated with chromosomal disorders including amongst others, short femur, short humerus, increased nuchal fold thicken­ing, pyelectasis, echogenic bowel, echogenic cardiac foci, and choroids plexus cysts, have been described. In the first trimester of pregnancy, a common feature of many chro­mosomal defects is the increased nuchal translucency (NT) thickness, but in later stages of pregnancy each chromo­somal defect has its own syndromal pattern of abnormali­ties. Over the last 15 years, several studies have shown that genetic sonography may detect 70-80% of the fetuses with Down’s syndrome (DS), as well as a significant pro­portion of fetuses with other chromosomal abnormalities, and by evaluating the presence or absence of multiple aneuploidy markers. Genetic sonography has been pro­posed as a way of adjusting the risk for DS, and therefore, the need for amniocentesis, in high-risk for aneuploidy pregnant women.

Key words: Chromosomal abnormalities; Genetic sonogram; Prenatal diagnosis; Chromosomal markers; Down’s syndrome (DS); Trisomy 21; Aneuploidy.




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