Abstract
Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. In this study, the practical clinical performance of our foetal DNA testing was evaluated for analysing all chromosome aberrations among 7113 pregnancies in Italy. This study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing platform obtained from Altamedica Medical Centre in Rome, Italy. In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomies 13, 18 and 21. Out of the 7113 samples analysed, 74 cases (1%) were positive by NIPT testing; foetal karyotyping and follow-up results validated 2 trisomy 13 cases, 5 trisomy 18 cases, 58 trisomy 21 cases and 10 sex chromosome aneuploidy cases. There were no false-negative results. In our hands, NIPT had high sensitivity and specificity for common chromosomal aneuploidies such as trisomies 13, 18 and 21.
Highlights
Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies
The discovery of cell-free foetal DNA in maternal plasma prompted the development of non-invasive prenatal testing (NIPT), introducing into clinical practice a new approach for the screening of common foetal aneuploidies, reducing unnecessary invasive procedures such us amniocentesis and chorionic villus sampling that may result in miscarriage or intrauterine infection (Odibo et al, 2008)
The objective of this study was to evaluate the performance of our foetal DNA test in detecting trisomies 13, 18, and 21 and sex chromosome aneuploidies (SCAs) in a cohort of 7113 high-risk or intermediate-risk pregnancies arriving in our laboratory between January 2018 and March 2019
Summary
Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. The discovery of cell-free foetal DNA (cffDNA) in maternal plasma prompted the development of non-invasive prenatal testing (NIPT), introducing into clinical practice a new approach for the screening of common foetal aneuploidies, reducing unnecessary invasive procedures such us amniocentesis and chorionic villus sampling that may result in miscarriage or intrauterine infection (Odibo et al, 2008). NIPT is based mainly on targeted and whole-genome-based technologies employing nextgeneration sequencing (NGS) These technologies rely on the ability to detect increases in cffDNA arising from the presence of an extra foetal chromosome. The objective of this study was to evaluate the overall clinical performance of our foetal DNA NIPT-NGS-based methodology in detecting trisomies 13, 18 and 21 and sex chromosome aneuploidies (SCAs) in a cohort of 7113 samples
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
