Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing.

@article{Wang2014MaternalMI,
  title={Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing.},
  author={Yanlin Wang and Yan Chen and Feng Tian and Jianguang Zhang and Zhuo Song and Yi Wu and Xu Han and Wenjing Hu and Duan Ma and David S Cram and Weiwei Cheng},
  journal={Clinical chemistry},
  year={2014},
  volume={60 1},
  pages={251-9}
}
BACKGROUND In the human fetus, sex chromosome aneuploidies (SCAs) are as prevalent as the common autosomal trisomies 21, 18, and 13. Currently, most noninvasive prenatal tests (NIPTs) offer screening only for chromosomes 21, 18, and 13, because the sensitivity and specificity are markedly higher than for the sex chromosomes. Limited studies suggest that the reduced accuracy associated with detecting SCAs is due to confined placental, placental, or true fetal mosaicism. We hypothesized that an… CONTINUE READING
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