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Amin R. Mazloom, Željko Džakula, Paul Oeth, Huiquan Wang, Taylor Jensen, John Tynan, Ron McCullough, Juan-Sebastian Saldivar, Mathias Ehrich, Dirk van den Boom, Allan T. Bombard, Margo Maeder, Graham McLennan, Wendy Meschino, Glenn E. Palomaki, Jacob A. Canick and Cosmin Deciu Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma Prenatal Diagnosis 33

Article first published online: 17 MAY 2013 | DOI: 10.1002/pd.4127

What's already known about this topic?

  • Circulating cell-free fetal DNA present in maternal plasma enables noninvasive prenatal testing.
  • Using massively parallel sequencing (MPS), accurate detection of trisomies of chromosomes 21, 18, and 18 has been demonstrated and is now offered as a laboratory developed test.
  • Detection of monosomy X through MPS is also possible. Fewer data are available for other sex chromosome aneuploidies (SCAs).

What does this study add?

  • By using a comprehensive bioinformatic model, we demonstrate that accurate detection of the most common SCAs through whole-genome MPS can be achieved.
  • The SCA detection algorithm will complement the already existing methods for detection of autosomal trisomy.

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