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Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

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Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. / 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.

In: PRENATAL DIAG, Vol. 34, No. 2, 02.2014, p. 185-91.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Stumm, M, Entezami, M, Haug, K, Blank, C, Wüstemann, M, Schulze, B, Raabe-Meyer, G, Hempel, M, Schelling, M, Ostermayer, E, Langer-Freitag, S, Burkhardt, T, Zimmermann, R, Schleicher, T, Weil, B, Schöck, U, Smerdka, P, Grömminger, S, Kumar, Y & Hofmann, W 2014, 'Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe', PRENATAL DIAG, vol. 34, no. 2, pp. 185-91. https://doi.org/10.1002/pd.4278

APA

Stumm, M., Entezami, M., Haug, K., Blank, C., Wüstemann, M., Schulze, B., Raabe-Meyer, G., Hempel, M., Schelling, M., Ostermayer, E., Langer-Freitag, S., Burkhardt, T., Zimmermann, R., Schleicher, T., Weil, B., Schöck, U., Smerdka, P., Grömminger, S., Kumar, Y., & Hofmann, W. (2014). Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. PRENATAL DIAG, 34(2), 185-91. https://doi.org/10.1002/pd.4278

Vancouver

Stumm M, Entezami M, Haug K, Blank C, Wüstemann M, Schulze B et al. Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. PRENATAL DIAG. 2014 Feb;34(2):185-91. https://doi.org/10.1002/pd.4278

Bibtex

@article{39b5f7e3bbe443d2b5f6a0ab49c6be30,
title = "Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe",
abstract = "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.",
keywords = "Adult, Algorithms, Amniocentesis, Aneuploidy, Chorionic Villi Sampling, Chromosome Aberrations, Chromosome Disorders/diagnosis, Chromosomes, Human, Pair 13/genetics, Chromosomes, Human, Pair 18/genetics, Down Syndrome/diagnosis, Female, Germany, High-Throughput Nucleotide Sequencing, Humans, Karyotyping, Male, Middle Aged, Mosaicism, Pregnancy, Prenatal Diagnosis, Sensitivity and Specificity, Sequence Analysis, DNA, Switzerland, Trisomy/diagnosis, Trisomy 13 Syndrome, Trisomy 18 Syndrome, Young Adult",
author = "Markus Stumm and Michael Entezami and Karsten Haug and Cornelia Blank and Max W{\"u}stemann and Bernt Schulze and Gisela Raabe-Meyer and Maja Hempel and Markus Schelling and Eva Ostermayer and Sabine Langer-Freitag and Tilo Burkhardt and Roland Zimmermann and Tina Schleicher and Bernd Weil and Ulrike Sch{\"o}ck and Patricia Smerdka and Sebastian Gr{\"o}mminger and Yadhu Kumar and Wera Hofmann",
note = "{\textcopyright} 2013 John Wiley & Sons, Ltd.",
year = "2014",
month = feb,
doi = "10.1002/pd.4278",
language = "English",
volume = "34",
pages = "185--91",
journal = "PRENATAL DIAG",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "2",

}

RIS

TY - JOUR

T1 - Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

AU - Stumm, Markus

AU - Entezami, Michael

AU - Haug, Karsten

AU - Blank, Cornelia

AU - Wüstemann, Max

AU - Schulze, Bernt

AU - Raabe-Meyer, Gisela

AU - Hempel, Maja

AU - Schelling, Markus

AU - Ostermayer, Eva

AU - Langer-Freitag, Sabine

AU - Burkhardt, Tilo

AU - Zimmermann, Roland

AU - Schleicher, Tina

AU - Weil, Bernd

AU - Schöck, Ulrike

AU - Smerdka, Patricia

AU - Grömminger, Sebastian

AU - Kumar, Yadhu

AU - Hofmann, Wera

N1 - © 2013 John Wiley & Sons, Ltd.

PY - 2014/2

Y1 - 2014/2

N2 - 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.

AB - 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.

KW - Adult

KW - Algorithms

KW - Amniocentesis

KW - Aneuploidy

KW - Chorionic Villi Sampling

KW - Chromosome Aberrations

KW - Chromosome Disorders/diagnosis

KW - Chromosomes, Human, Pair 13/genetics

KW - Chromosomes, Human, Pair 18/genetics

KW - Down Syndrome/diagnosis

KW - Female

KW - Germany

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Karyotyping

KW - Male

KW - Middle Aged

KW - Mosaicism

KW - Pregnancy

KW - Prenatal Diagnosis

KW - Sensitivity and Specificity

KW - Sequence Analysis, DNA

KW - Switzerland

KW - Trisomy/diagnosis

KW - Trisomy 13 Syndrome

KW - Trisomy 18 Syndrome

KW - Young Adult

U2 - 10.1002/pd.4278

DO - 10.1002/pd.4278

M3 - SCORING: Journal article

C2 - 24222400

VL - 34

SP - 185

EP - 191

JO - PRENATAL DIAG

JF - PRENATAL DIAG

SN - 0197-3851

IS - 2

ER -