Simultaneous determination of aneuploidy and fetal fraction

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...

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Bibliographic Details
Main Authors Comstock, David A, Rava, Richard P, Chinnappa, Manjula, Heilek, Gabrielle, Quake, Stephen
Format Patent
LanguageEnglish
Published 09.04.2024
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Summary: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.
Bibliography:Application Number: US202117465163