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H. Choi, T. K. Lau, F. M. Jiang, M. K. Chan, H. Y. Zhang, P. S. S. Lo, F. Chen, L. Zhang and W. Wang Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘False positive’ due to confined placental mosaicism Prenatal Diagnosis 33

Version of Record online: 27 NOV 2012 | DOI: 10.1002/pd.4024

What's already known about this topic?

  • Non-invasive prenatal testing by maternal plasma DNA sequencing is highly sensitive and specific in detecting fetal aneuploidies.

What does this study add?

  • We report a case of ‘false positive’ result of NIPT because of confined placental mosaicism.

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