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Non-Invasive Prenatal Testing for Aneuploidy: A Review of the Literature

Ayse Kirbas, Korkut Daglar, Nuri Danisman.




Abstract

Aneuploidy is one of the leading causes of perinatal deaths and childhood handicaps. An important issue that has led to heated debates in the agenda of maternal-fetal medicine and that has been widely investigated in recent years is ‘the isolation of fetal deoxyribonucleic acid (DNA) from maternal blood. It is agreed that fetal DNA can be used in fetal aneuploidy screening and in predicting some pregnancy complications that are considered to be of placenta-based such as preeclampsia and preterm labor. The fetal DNA testing of maternal blood is regarded as an advanced screening test and generally named as ‘noninvasive prenatal test’ (NIPT). In this meta-study, we will review the accumulated data on the increasing clinical use of NIPT in perinatology as well as the other presently used conventional noninvasive aneuploidy screening methods.

Key words: Fetal DNA Non-invasive prenatal diagnosis, Trisomy 21, Trisomy 18, prenatal screening






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