P16.05: The influence of chromosomal microarray and NIPT on the diagnostic yield in 6,811 high‐risk pregnancies without ultrasound anomalies

Abstract

Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and non-invasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our centre. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 6811 high risk pregnancies without ultrasound anomalies referred for prenatal testing in 2009-2015 due to advanced maternal age, abnormal first trimester screening results (with nuchal translucency < 3.5mm) or recurrence risk for chromosome aberration. Chromosomal SNP microarray analysis replaced karyotyping in 2012 and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy (as a part of a national TRIDENT study). The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations in 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests, but also of the diagnostic yield. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.