Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing | Zendy

Jessica ME van den Oever | Zendy; Sahila Balkassmi | Zendy; Lennart Johansson | Zendy; P. N. Adama van Scheltema | Zendy; Ron F. Suijkerbuijk | Zendy; Mariëtte J.V. Hoffer | Zendy; Richard J. Sinke | Zendy; Egbert Bakker | Zendy; Birgit SikkemaRaddatz | Zendy; Elles M. J. Boon | Zendy

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Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing

Author(s) -

Jessica ME van den Oever,

Sahila Balkassmi,

Lennart Johansson,

P. N. Adama van Scheltema,

Ron F. Suijkerbuijk,

Mariëtte J.V. Hoffer,

Richard J. Sinke,

Egbert Bakker,

Birgit SikkemaRaddatz,

Elles M. J. Boon

Publication year - 2013

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2012.196212

Subject(s) - trisomy , massive parallel sequencing , biology , dna sequencing , fetus , genetics , dna , pregnancy

Noninvasive trisomy 21 detection performed by use of massively parallel sequencing is achievable with high diagnostic sensitivity and low false-positive rates. Detection of fetal trisomy 18 and 13 has been reported as well but seems to be less accurate with the use of this approach. The reduced accuracy can be explained by PCR-introduced guanine-cytosine (GC) bias influencing sequencing data. Previously, we demonstrated that sequence data generated by single molecule sequencing show virtually no GC bias and result in a more pronounced noninvasive detection of fetal trisomy 21. In this study, single molecule sequencing was used for noninvasive detection of trisomy 18 and 13.

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