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Abstract

Benefits of targeted sequencing in noninvasive prenatal testing (article in Czech)
Putzová Martina, Hasch Marcel, Gomolčáková Barbora, Šubrt Ivan, Michal Michal
Actual Gyn 2017, 9, 10-13
Publication date: 2017-05-02
Manuscript ID: 0816025
Number of views: 793
Abstract

Nowadays we are witnessing the rapid penetration of non-invasive prenatal diagnostics into routine practice. In the past two years many types of cfDNA tests both commercial kits and "homemade" tests have appeared on the market. The aim of our contribution is to bring your attention to the significant differences in quality of available non-invasive tests (NIPT) from molecular and clinical perspective.

Key words: noninvasive prenatal testing, targeted sequencing, fetal DNA, massive parallel sequencing, fetal fraction, false negative rate, false positive rate, positive predictive value, Down syndrome, trisomy