Patent ID: 11965207
Assignee: EUROFINS LIFECODEXX GMBH
Field: Biotechnology (Chemistry)
Classification: CPC C  G | IPC C  G

Claim 0:
1. A computer program product comprising a non-transitory computer readable medium encoded with a plurality of instructions for controlling a computing system to perform and/or manage an operation for determining:
(x) if an individual is suffering from or developing a medical condition and/or (y) if a diagnosis for an anomaly in a species of DNA originating from cells of a fetus and/or the placenta of a fetus may be performed; said operation comprising the steps of:
(A) receiving a first signal corresponding to an amount of methylation at two or more differentially methylated regions (DMRs) in a sample from a pregnant female,
wherein the sample comprises (a) a species of DNA of fetal and/or fetal placental origin and (b) DNA of maternal origin, wherein DMRs in the fetal and/or fetal placental DNA species are hyper-methylated and DMRs of the maternal DNA are hypo-methylated and
wherein the amount of methylation received by the first signal is from the species of DNA originating from cells of a fetus and/or the placenta of a fetus;

(B) receiving a second signal corresponding to an amount of total DNA in the sample, wherein said total amount of DNA is determined using at least one other region(s),

wherein (i) the amount of methylation at the two or more DMRs and (ii) the amount of the total DNA are determined by a method comprising:
(1) treating the sample from the pregnant female with a reagent that differentially modifies methylated and non-methylated DNA,
wherein there is no detectable difference between modification by said reagent at the other region(s) of DNA originating from the cells of the fetus and/or the placenta of the fetus as compared to the other region(s) of maternal DNA, and
wherein the DMRs comprise at least one methylation site specific for the reagent,

(2) labeling each of the DMRs with the same detectable label and labeling the at least one other region(s) with a different detectable label,
(3) quantifying the amount of the two or more DMRs and the amount of the at least one other region(s) effectively simultaneously using a same aliquot of DNA from the sample, and in the same reaction/detection vessel,
(4) quantifying an amount of total DNA in a standard sample of DNA of known amount using the same other region(s) as used in step (B) to obtain a third signal and comparing the second signal to the third signal to determine a relative or absolute amount of total DNA in the sample from the pregnant female,

(C) comparing the first signal and the second signal to determine a relative or absolute amount of a fraction of the total DNA, wherein the fraction of total DNA corresponds to the species of DNA originating from the cells of the fetus and/or the placenta of the fetus,
(D) comparing the relative or absolute amount of the DNA species fraction to a threshold amount and/or reference distribution of amounts;
wherein an outlying of the relative or absolute amount of said DNA species fraction in comparison to the threshold amount and/or reference distribution of amounts indicates (x) that the individual is suffering from or is developing a medical condition; and/or wherein an increase in relative or absolute amount of said DNA species fraction in comparison to the threshold amount indicates (y) that a diagnosis for an anomaly in the species of DNA originating from the cells of the fetus and/or the placenta of the fetus may be performed.