Contribution of maternal mosaicism to false-positive chromosome X loss associated with noninvasive prenatal testing.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians(2022)
摘要
Our findings indicated that maternal mosaicism of sex chromosome was not uncommon in false-positive NIPT chromosome X loss cases. We recommend that this information should be disclosed to pregnancies during clinical counseling and maternal sex chromosome status should be confirmed for the cases with NIPT chromosome X loss.
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关键词
cffDNA,chromosome aneuploidies,genetic counseling,maternal mosaicism,noninvasive prenatal testing
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