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Reducing false positive rate of fetal monosomy X in non‐invasive prenatal testing using a combined algorithm to detect maternal mosaic monosomy X
Author(s) -
Phan MinhDuy,
Vo Binh T.,
Nguyen Thong V.,
Tran NhatThang,
Trinh Huong N.T.,
Nguyen Tho T.Q.,
Nguyen Nguyen H.,
Tran Truong T.,
Tran Uyen V.,
Dao Thuy T.H.,
Pham Anh H.,
Tran Tam H.,
Truong Kiet D.,
Hoang Tuyet T.D.,
Do ThanhThuy T.,
Nguyen HoaiNghia,
Giang Hoa
Publication year - 2019
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.5430
Subject(s) - monosomy , false positive rate , aneuploidy , fetus , prenatal diagnosis , biology , algorithm , medicine , obstetrics , gynecology , genetics , pregnancy , karyotype , mathematics , chromosome , statistics , gene
What's already known about this topic? The false positive rate of detecting monosomy X by NIPT is higher than that of other autosomal aneuploidies, due in part to maternal mosaic monosomy X. What does this study add? Our triSure method is less sensitive to the confounding effect of maternal DNA than NIPTeR method. By combining z ‐scores of chrX from triSure and NIPTeR, we can detect cases of fetal XX (−2.5 < z X by triSure < 2.5) with maternal mosaicism monosomy X (z X by NIPTeR < −2.5), potentially reducing false positive rate of fetal monosomy X.