OBJECTIVE: 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. METHODS: Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were identified using a median absolute deviation based z-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. RESULTS: 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. CONCLUSION: 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.
OBJECTIVE: 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. METHODS: Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were identified using a median absolute deviation based z-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. RESULTS: 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. CONCLUSION: 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.
Authors: Karin Huijsdens-van Amsterdam; Lieve Page-Christiaens; Nicola Flowers; Michael D Bonifacio; Katie M Battese Ellis; Ida Vogel; Else Marie Vestergaard; Javier Miguelez; Mario Henrique Burlacchini de Carvalho; Erik A Sistermans; Mark D Pertile Journal: Eur J Hum Genet Date: 2018-06-13 Impact factor: 4.246
Authors: L F Johansson; E N de Boer; H A de Weerd; F van Dijk; M G Elferink; G H Schuring-Blom; R F Suijkerbuijk; R J Sinke; G J Te Meerman; R H Sijmons; M A Swertz; B Sikkema-Raddatz Journal: Sci Rep Date: 2017-05-12 Impact factor: 4.379
Authors: Sebastian Grömminger; Erbil Yagmur; Sanli Erkan; Sándor Nagy; Ulrike Schöck; Joachim Bonnet; Patricia Smerdka; Mathias Ehrich; Rolf-Dieter Wegner; Wera Hofmann; Markus Stumm Journal: J Clin Med Date: 2014-06-25 Impact factor: 4.241
Authors: L C Poon; D Dumidrascu-Diris; C Francisco; I Fantasia; K H Nicolaides Journal: Ultrasound Obstet Gynecol Date: 2015-12-28 Impact factor: 7.299