Verinata Health, Inc.

Manjula Chinnappa

Richard P Rava

David A Comstock

Gabrielle Heilek

Michael W Hunkapiller

Brian K Rhees

Yue-Jen Chuu

Stephen R Quake

Anupama Srinivasan

Stephen Quake

The invention provides compositions and methods for determining the fraction of fetal nucleic acids in a maternal sample comprising a mixture of fetal and maternal nucleic acids. The fraction of fetal nucleic acids can be used in determining the presence or absence of fetal aneuploidy.

Methods for determining fraction of fetal nucleic acids in maternal samples

The invention provides compositions and methods for simultaneously determining the presence or absence of fetal aneuploidy and the relative amount of fetal nucleic acids in a sample obtained from a pregnant female. The method encompasses the use of sequencing technologies and exploits the occurrence of polymorphisms to provide a streamlined noninvasive process applicable to the practice of prenatal diagnostics.

Simultaneous determination of aneuploidy and fetal fraction

The invention provides methods for determining aneuploidy and/or fetal fraction in maternal samples comprising fetal and maternal cfDNA by massively parallel sequencing. The method comprises a novel protocol for preparing sequencing libraries that unexpectedly improves the quality of library DNA while expediting the process of analysis of samples for prenatal diagnoses.

Sequencing methods and compositions for prenatal diagnoses

Sequencing methods for prenatal diagnoses

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Foster City, CA, United States of America

Manjula Chinnappa