Noninvasive detection of fetal aneuploidy in egg donor pregnancies
AssigneeAriosa Diagnostis, Inc.
InventorsArnold Oliphant, Eric Wang, Craig Struble
Life of this patent
Estimating the term…
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.
Claims44
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.
An assay system for providing a statistical likelihood of the presence or absence of fetal aneuploidy in a pregnant female with an egg donor pregnancy, comprising
- providing a maternal sample comprising maternal and fetal cell-free DNA;
- interrogating two or more nucleic acid regions from a first chromosome;
- detecting the interrogated nucleic acid regions from the first chromosome;
- quantifying a relative frequency of alleles from the nucleic acid regions from the first chromosome;
- interrogating two or more selected nucleic acid regions from a second chromosome;
- detecting the interrogated nucleic acid regions from the second chromosome;
- quantifying a relative frequency of alleles from the nucleic acid regions from the second chromosome;
- comparing the relative frequency of the nucleic acid regions from the first chromosome to the relative frequency of the nucleic acid regions form the second chromosome;
- calculating percent fetal cell-free DNA in the maternal sample;
- and
- providing a statistical likelihood of the presence of absence of a fetal aneuploidy using the calculated percent fetal cell-free DNA in the maternal sample;
- wherein calculating percent fetal cell-free DNA comprises selecting egg donor informative loci in which the maternal DNA and the fetal DNA differ in at least one allele.
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.