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A METHOD FOR NON-INVASIVE PRENATAL DETECTION OF FETAL SEX CHROMOSOMAL ABNORMALITIES AND FETAL SEX DETERMINATION FOR SINGLETON AND TWIN PREGNANCIES
A METHOD FOR NON-INVASIVE PRENATAL DETECTION OF FETAL SEX CHROMOSOMAL ABNORMALITIES AND FETAL SEX DETERMINATION FOR SINGLETON AND TWIN PREGNANCIES
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机译：胎儿性别染色体异常的无创产前检测和单胎和双胎胎儿性别确定的方法
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摘要
The invention relates generally to the field of non-invasive prenatal screening and diagnostics. The invention provides reliable method that is applicable to the practice of non-invasive prenatal screening for sex chromosomes aneuploidies such as monosomy X (X0, Turner syndrome), XXY (Klinefelter syndrome), XXX (triple X syndrome), and XYY (Jacob syndrome), from the blood sample taken from mother in early stage of pregnancy. Moreover, the invention provides a novel approach to calculation of fetal fraction of cell free DNA fragments. The invention relates particularly to single or twin pregnancies, however, the extension of the invention to triple or quadruple pregnancies is contemplated.
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