Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

Abstract

Abstract:The introduction of non-invasive prenatal testing (NIPT) into prenatal care represents a paradigm shift. With the absence of any intervention risk in contrast to invasive diagnostic procedures, NIPT has been widely adopted for the detection of fetal trisomy 13, 18 and 21. Additionally, fetal sex chromosome aneuploidy testing and sex determination are available, but can be compromised by both, medical and legal factors. Available validation studies were predominantly based on patients with a high a priori aneuploidy risk, determined by trimester screening or invasive diagnostics. In this review, we discuss the interpretation of NIPT results in context of patient specific risk constellations, the available performance data and dominant methodical approaches of NIPT including necessary content of genetic counseling.

Metode molekularne dijagnostike u prenatalnoj medicini

“…kromosomske translokacije ili monogenske bolesti u obitelji), kao i stanja koja mogu dovesti do lažnih NIPT rezultata visokoga rizika, npr. somatski mozaicizam majke 126 . Isto tako, trudnici se moraju jasno predočiti i ograničenja metode, a to su već prije spomenuta mogućnost lažno pozitivnih, odnosno negativnih rezultata, pozitivnu prediktivnu vrijednost (PPV) itd 127,128 .…”