NON-INVASIVE PRENATAL TESTING METHOD BASED ON WHOLE-GENOME TENDENCY SCORING

摘要

Provided is a non-invasive prenatal testing method based on whole-genome tendency scoring and adapted to test whether a pregnant woman's fetus has autosomal aneuploidy. The method includes: creating a database of mk values which equal the averages of length proportions of health persons' chromosome k; obtaining the pregnant woman's and her fetus' chromosomal data yk from the pregnant woman's plasma; obtaining p values by the ratio of the yk values to the mk values; and analyzing p values to determine whether the target chromosome has chromosome aneuploidy. The comparable data is increased and thus test accuracy is enhanced by comparing the p values and the p values in a database. Due to an abundance of comparable data, the method of the present invention is accurate even when performed in the first trimester, such that pregnant women can know as soon as possible whether their fetuses' chromosomes are normal.

主权项

1. A non-invasive prenatal testing method based on whole-genome tendency scoring and adapted to test whether a pregnant woman's fetus has autosomal aneuploidy, the testing method comprising the steps of:
(a) creating a database: obtaining and treating chromosome cell-free DNA fragment counts in at least a pregnant woman's plasma as a control sample to thereby obtain a mk value, wherein the pregnant woman and the pregnant woman's fetus do not have chromosomal quantity abnormality, wherein the mk value equals an average of length proportions of chromosome k, where k=1, 2, . . . , 22, and Σk=122mk=1; (b) obtaining a blood sample: obtaining the pregnant woman's blood. sample and separating plasma from the blood sample; (c) obtaining chromosome ratios: obtaining from the pregnant woman's plasma the pregnant woman's and her fetus' chromosomal data yk, the yk value being a ratio of the pregnant woman's read count of chromosome k to the pregnant woman's total read count of chromosomes; (d) obtaining p values: the p values equal ratios of the yk values to the mk values, respectively, including the ratio of the yk value of a target chromosome to the mk value and the ratio of the yk value of at least a reference chromosome to the mk value; and (e) analyzing p values: comparing the p values to determine whether the target chromosome has chromosome aneuploidy.