NON-INVASIVE FETAL SEX DETERMINATION

摘要

The present invention provides methods for non-invasive determination of sex in a fetus or of Y chromosomal frequency abnormalities—indicative of aneuploidy or sex mosaicisms in a fetus—by detecting and determining the relative contribution genetic sequences from the Y chromosome in view of the percent fetal contribution in a maternal mixed sample.

主权项

1. A method for determining a risk for Y chromosomal frequency abnormalities in a fetus comprising the steps of:
obtaining maternal samples comprising maternal and fetal nucleic acids; annealing sets of two fixed sequence oligonucleotides specific to selected nucleic acid regions on the Y chromosome and to polymorphic and non-polymorphic selected nucleic acid regions on at least one non-Y chromosome to the maternal and fetal nucleic acids; selectively amplifying the selected nucleic acid regions from the Y chromosome and the at least one non-Y chromosome to generate amplified selected nucleic acid regions; sequencing the amplified selected nucleic acid regions; quantifying the sequenced nucleic acid regions; determining a frequency of the quantified nucleic acid regions from the Y chromosome and the at least one non-Y chromosome; determining a percent of fetal nucleic acids in the maternal samples by looking at the frequency of the quantified polymorphic selected nucleic acid regions from the at least one non-Y chromosome; and determining a probability that the fetus is a normal male fetus and the risk for Y chromosomal frequency abnormalities in the fetus by assessing the frequency of the quantified nucleic acid regions from the Y chromosome in view of the frequency of the quantified nucleic acid regions from the non-Y chromosome and the percent fetal nucleic acids in the maternal samples.