Determining fetal genomes for multiple fetus pregnancies

Abstract

Techniques are provided for determining inheritance of maternal and paternal haplotypes in preganncies with multiple fetuses. Maternal inheritance can be determined at loci where the mother is heterozygous and the paternally inherited alleles are known (e.g., the father is homozygous). Two types of loci may be used, where one type has the paternal allele appear on a first maternal haplotype, and another type has the paternal allele appear on a second maternal haplotype. Paternal inheritance can be determined from loci where the father is heterozygous and the maother is homozygous. Amounts of different alleles at each locus can be measured. A comparison of the amounts (e.g., using a fractional concentration of each allele and cutoffs) can be used to determine the haplotype inheritance. A haplotype can be linked to a condition of interest.

Description

[0001] Cross References to Related Applications [0002] This application claims priority to U.S. Provisional Application No. 61 / 789,992, entitled "Determining Fetal Genomes For Multiple Fetus Pregnencies," filed March 15, 2013, the entire contents of which are incorporated herein by reference for all Purpose. [0003] This application is related to commonly-owned U.S. Patent Publication No. 2011 / 0105353 to Lo et al., entitled "Fetal Genomic Analysis From A Maternal Biological Sample"; and U.S. Patent Publication No. US 2013 / 0059733 to Lo et al., entitled "Molecular Testing Of Multiple Pregnencies," which disclose Incorporated by reference in its entirety. technical field [0004] The present invention relates generally to the analysis of the fetal genome based on a maternal sample, and more particularly to the determination of all or part of the fetal genome of a polypeptide pregnancy based on the analysis of genetic segments in a maternal sample. Background of the inventi...

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Problems solved by technology

[0007] However, such methods use prior knowledge of possible mutations to analyze specific parts of the genome, making it impossible to identify latent or rare mutations or genetic diseases

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