Prenatal Tarama Testleri ve Hücreden Bağımsız Fetal DNA

Prenatal tarama testlerinin kullanım amacı gebeliğin erken haftalarında kromozomal anöplöidi açısından yüksek risk taşıyan gebelerin tesbit edilmesi ve her gebenin mevcut riskleri ve tercihleri göz önünde bulundurularak bilgilendirilmesidir. Son yıllarda prenatal tarama testleri geleneksel prenatal tarama testleri ve hücreden bağımsız fetal DNA (cffDNA, fetal DNA, NIPT) olarak ikiye ayrılmaktadır. Maternal kandan biyobelirteçlerin ölçülüp ultrasonografik bulgularla kombine edildiği geleneksel prenatal tarama testleri halen birinci tercih olarak önerilmektedir. cffDNA ile gebeliğin 10. haftasından itibaren maternal kanda yeni nesil sekanslama teknikleri kullanılarak fetal DNA fragmanları analiz edilmektedir. Günümüzde hangi popülasyona cffDNA testinin önerileceği, klinik kullanımda faydası, maliyeti, limitasyonları ve avantajları tartışmalı bir konudur.

Anahtar Kelimeler:

prenatal tarama testleri, fetal DNA, cffDNA

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