PROCÉDÉ DE DÉTECTION PRÉNATALE NON INVASIVE D'ANOMALIES CHROMOSOMIQUES DU SEXE DU FOETUS ET DE DÉTERMINATION DU SEXE DU FOETUS EN VUE D'UNE GROSSESSE UNIQUE ET D'UNE GROSSESSE GÉMELLAIRE

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.