Validation and Clinical Use of the Non-Invasive Prenatal Test “Veracity”

Cell-free DNA has been utilized as a novel analyse for the development of non-invasive approaches to prenatal genetic testing using different methodologies [1-4]. Following the publication of a number of major research and clinical studies that revealed high accuracy to detect fetal aneuploidies, the use of noninvasive prenatal testing (NIPT) has been widely adopted in clinical practice. NIPT technologies provide significant improvements over conventional invasive prenatal testing and consequently, international bodies endorse NIPT as a routine screening option [5,6]. This has resulted in many institutions adopting NIPT within the scope of standard of care for autosomal and sex chromosomal aneuploidy detection (SCA). Mother and Child Clinic is a primary clinical centre certified by the Russian Ministry of Health and specialises in screening and diagnosing prenatal chromosomal aneuploidies. NIPT has been offered as a prenatal screening option in our clinic since (May 2017). This study aims to summarize the NIPT results and clinical performance of NIPT in the detection of trisomy 13,18,21 and SCAs using the Veracity non-invasive prenatal test in a cohort of 1382 samples among mixed-risk participants. In this report we convey a complete and robust clinical picture of the performance of Veracity under routine NIPT testing conditions and describe examples of unique clinical cases.