Determining percentage of fetal DNA in maternal sample
AssigneeThe Chinese University of Hong Kong
InventorsYuk-Ming Dennis Lo, Rossa Wai Kwun Chiu, Kwan Chee Chan, Benny Chung-Ying Zee, Ka Chun Chong
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AssigneeThe Chinese University of Hong Kong
InventorsYuk-Ming Dennis Lo, Rossa Wai Kwun Chiu, Kwan Chee Chan, Benny Chung-Ying Zee, Ka Chun Chong
Estimating the term…
Methods, systems, and apparatus are provided for determining whether a nucleic acid sequence imbalance exists within a biological sample. One or more cutoff values for determining an imbalance of, for example, the ratio of the two sequences (or sets of sequences) are chosen. The cutoff value may be determined based at least in part on the percentage of fetal DNA in a sample, such as maternal plasma, containing a background of maternal nucleic acid sequences. The percentage of fetal DNA can be calculated from the same or different data used to determine the cutoff value, and can use a locus where the mother is homozygous and the fetus is heterozygous. The cutoff value may be determined using many different types of methods, such as sequential probability ratio testing (SPRT).
A method of measuring a fractional concentration of fetal DNA in a biological sample of a female subject pregnant with a fetus, the biological sample including a mixture of cell-free nucleic acid molecules from the female subject and from the fetus, and wherein the female subject is homozygous at a first locus for a first allele and the fetus is heterozygous at the first locus for the first allele and a second allele different from the first allele, the method comprising:
A computer program product comprising a computer readable medium encoded with a plurality of instructions for controlling a measurement and computing system to perform a method of measuring a fractional concentration of fetal DNA in a biological sample of a female subject pregnant with a fetus, the biological sample including a mixture of cell-free nucleic acid molecules from the female subject and from the fetus, and wherein the female subject is homozygous at a first locus for a first allele and the fetus is heterozygous at the first locus for the first allele and a second allele different from the first allele, the method comprising:
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