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Two cases of placental T21 mosaicism: challenging the detection limits of non‐invasive prenatal testing
Author(s) -
Wang Yanlin,
Zhu Jiansheng,
Chen Yan,
Lu Shoulian,
Chen Biliang,
Zhao Xinrong,
Wu Yi,
Han Xu,
Ma Duan,
Liu Zhongyin,
Cram David,
Cheng Weiwei
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4212
Subject(s) - prenatal diagnosis , cell free fetal dna , fetus , chorionic villus sampling , aneuploidy , medicine , pregnancy , obstetrics , biology , genetics , chromosome , gene
What's already known about this topic? Confined placental mosaicism (CPM) is a known biological phenomenon that can lead to false positive non-invasive prenatal test results. The small number of false negative non‐invasive prenatal test results reported to date are believed to be because of a low fetal DNA fraction in maternal plasma and/or placental mosaicismWhat does this study add? The degree and compartmentalization of placental mosaicism can potentially reduce the effective output of fetal DNA into the maternal circulation to steady state levels below the detection limit of non‐invasive prenatal testing, leading to a false negative result