Overview of the impact of noninvasive prenatal testing on diagnostic procedures†. (21st May 2015)

• Record Type: Journal Article
• Authors: Warsof, Steven L.; Larion, Sebastian; Abuhamad, Alfred Z.; Chitty, Lyn S.; Bianchi, Diana W.
• Is Part Of: Prenatal diagnosis. Volume 35:Number 10(2015:Oct.)
• Page Start: 972
• Page End: 979
• Publication Date: 2015-05-21
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4601
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>Noninvasive prenatal testing (NIPT) has had a profound influence in the field of prenatal diagnosis since the 1997 discovery of cell‐free fetal DNA in maternal blood. Research has progressed rapidly, with clinical data supporting laboratory studies showing that NIPT is highly sensitive and specific for fetal aneuploidy, resulting in marked uptake in the high‐risk patient population. The superior accuracy of NIPT compared with conventional screening methods has led to significant decreases in the number of invasive diagnostic procedures, in addition to a concomitant decrease in the number of procedure‐related fetal losses. Yet, NIPT has been described as a 'disruptive innovation' due to the considerable changes the technology has commanded on current prenatal screening and diagnostic practices. This review summarizes both institutional and global experience with NIPT uptake, its effect on reducing diagnostic invasive procedures, and the unique challenges that reduced procedural volume may have on physician and trainee proficiency, cytogenetic laboratories, and neonatal outcome. © 2015 John Wiley &amp; Sons, Ltd.</p> </abstract>