Diagnostic accuracy of random massively parallel sequencing for non‐invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. (12th December 2013)

• Record Type: Journal Article
• Authors: Stumm, Markus; Entezami, Michael; Haug, Karsten; Blank, Cornelia; Wüstemann, Max; Schulze, Bernt; Raabe‐Meyer, Gisela; Hempel, Maja; Schelling, Markus; Ostermayer, Eva; Langer‐Freitag, Sabine; Burkhardt, Tilo; Zimmermann, Roland; Schleicher, Tina; Weil, Bernd; Schöck, Ulrike; Smerdka, Patricia; Grömminger, Sebastian; Kumar, Yadhu; Hofmann, Wera
• Is Part Of: Prenatal diagnosis. Volume 34:Number 2(2014:Feb.)
• Page Start: 185
• Page End: 191
• Publication Date: 2013-12-12
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4278
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <sec id="pd4278-sec-0001" sec-type="section"> <title>Objective</title> <p>The objective of this study is to validate the diagnostic accuracy of a non‐invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland.</p> </sec> <sec id="pd4278-sec-0002" sec-type="section"> <title>Methods</title> <p>Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were identified using a median absolute deviation based <italic>z</italic>‐score equation. A bioinformatics algorithm based on guanine‐cytosine normalization was applied after the data were unblinded. Results of massively parallel sequencing and invasive procedures were compared.</p> </sec> <sec id="pd4278-sec-0003" sec-type="section"> <title>Results</title> <p>Overall, 40/42 samples were correctly classified as trisomy 21‐positive, including a translocation trisomy 21 [46, XY, der(13;21), +21] and a structural aberration of chromosome 21 [46, XX, rec(21)dup(21q)inv(21)(p12q21.1)] but not including a low percentage mosaic trisomy 21 [47, XY, +21/46, XY], [sensitivity: 95.2%; one‐sided lower confidence limit: 85.8%]; 430/430 samples were correctly classified as trisomy 21‐negative (specificity: 100%; one‐sided lower CL: 99.3%). Using a new bioinformatics algorithm with guanine‐cytosine normalization, detection of trisomy 21 was facilitated, and five of five trisomy 13 cases and eight of eight trisomy 18 cases were correctly identified.</p> </sec> <sec id="pd4278-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Our newly established non‐invasive prenatal test allows detection of fetal trisomies 13, 18, and 21 with high accuracy in a population in Germany and Switzerland. © 2013 John Wiley & Sons, Ltd.</p> </sec> </abstract>