Noninvasive detection of fetal aneuploidy in egg donor pregnancies
AssigneeRoche Molecular Systems, Inc.
InventorsArnold Oliphant, Eric Wang, Craig Struble
Life of this patent
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Abstract
The present invention provides assay systems and methods for determining the percent fetal contribution of cell-free DNA in a maternal sample from a pregnant female with an egg donor pregnancy. Further provided, are assay systems and methods for determining a statistical likelihood of the presence or absence of a fetal aneuploidy in a maternal sample using a determined percent fetal cell-free DNA in the sample.
Claims20
A method for determining the percent fetal cell-free DNA in a maternal sample from a pregnant female with an egg donor pregnancy, comprising:
- providing a maternal sample comprising maternal and fetal cell-free DNA;
- interrogating two or more selected polymorphic nucleic acid regions;
- detecting the interrogated nucleic acid regions;
- determining a relative frequency of polymorphisms in the interrogated nucleic acid regions to identify egg donor informative loci;
- calculating a percent fetal cell-free DNA using the identified egg donor informative loci.
A method for identifying the presence or absence of a fetal aneuploidy in sample from a female with an egg donor pregnancy, comprising
- providing a maternal sample comprising maternal and fetal cell-free DNA;
- calculating a percent fetal cell-free DNA in the sample using identified egg donor informative loci;
- demonstrating the sample comprises fetal cell-free DNA above a threshold level;
- interrogating two or more nucleic acid regions from a first chromosome;
- interrogating two or more nucleic acid regions from at least a second chromosome
- determining a frequency of the interrogated nucleic acid regions from the first and at least second chromosome;
- identifying the presence or absence of a fetal aneuploidy based on the determined relative frequencies of the nucleic acid regions from the first and at least second chromosome.
Dependencies are inferred from the claim text.