METHOD FOR NON-INVASIVE PRENATAL IDENTIFICATION OF ABNORMAL CHROMOSOME ANOMALIES IN THE FETUS AND DETERMINATION OF THE FETAL FLOOR IN THE EVENT OF ONE-FEMALE AND TWO-FILLED PREGNANCY

摘要

In General, the present invention relates to the field of non-invasive prenatal screening and diagnosis. The present invention provides a reliable method that is applicable in the practical implementation of non-invasive prenatal screening of sex chromosome aneuploids, such as X (X0, Turner syndrome), XXY (Klinefelter syndrome), XXX (Trisomy X syndrome) and XYY (Jacobs syndrome) monosomy using a sample of blood taken from the mother in the early stages of pregnancy. Moreover, the present invention provides a new approach to calculating the fetal fraction of extracellular DNA fragments. In particular, the present invention relates to single or double fetal pregnancies, however, it is contemplated that the invention will be extended to triple or quadruple pregnancies.