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Validation of two‐channel sequencing‐by‐synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations
Author(s) -
Neveling Kornelia,
Tjwan Thung Djie,
Beulen Lean,
RensBuijsman Wendy,
Gomes Ingrid,
Heuvel Simone,
Mieloo Hanneke,
DerksPrinsen Irma,
KaterBaats Ellen,
Faas Brigitte H. W.
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4777
Subject(s) - aneuploidy , chromosome , significant difference , genetics , turnaround time , medicine , biology , computer science , gene , operating system
Abstract Objective To validate Illumina's two‐channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. Methods A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were sequenced on the NextSeq 500 using 75‐bp single‐end sequencing, followed by analysis using the WISECONDOR algorithm. Results For whole chromosome aneuploidy detection, all samples were classified correctly (in total 3× T13, 3× T18, 8× T21 and 145× euploid). Three partial aberrations (36‐Mb terminal loss of 5p, 14‐Mb gain on 18p and 33‐Mb terminal loss of 13q) were also correctly identified. Fetal fractions in 34 male samples sequenced on both the SOLiD 5500xl and NextSeq 500 platform showed no significant difference. To test robustness, two sample sets, containing both euploid and aneuploid samples, were sequenced on different NextSeq 500 machines, revealing identical results. With unchanged laboratory flow, the NIPT turnaround time could be reduced from 15–16 calendar days to 7–8 calendar days, after switching from the SOLiD 5500xl to the NextSeq 500 platform. Conclusions The NextSeq 500 platform can be used for NIPT to detect both whole and partial chromosome aberrations. It has fast turnaround times and is suitable for mid‐sized laboratories. © 2016 John Wiley & Sons, Ltd.