The Chinese University of Hong Kong

Cheuk Yin Jandy Yu

Kwan Chee Chan

Rossa Wai Kwun Chiu

Peiyong Jiang

Yuk-Ming Dennis Lo

Yuk Ming Dennis Lo

Wai Kwun Rossa Chiu

An aberration in a fetal genome can be identified by analyzing a sample of fetal and maternal DNA. Classifications of whether an aberration (amplification or deletion) exists in a subchromosomal region are determined using count-based and size-based methods. The count classification and the size classification can be used in combination to determine whether only the fetus or only the mother, or both, have the aberration in the subchromosomal region, thereby avoiding false positives when the mother has the aberration and the fetus does not.

Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations

Disclosed herein are methods, systems, and apparatus for detecting microamplifications or microdeletions in the genome of a fetus. In some embodiments, the method comprises receiving sequence tags for each of a plurality of DNA fragments in a biological sample; determining genomic positions for the sequence tags; determining whether the density of DNA in each of a plurality of genomic regions is aberrantly high or low; identifying as a microamplification a set of consecutive genomic regions having aberrantly high density; and identifying as a microdeletion a set of consecutive genomic regions having aberrantly low density. The biological sample may be a blood sample obtained noninvasively from a female subject pregnant with the fetus.

Noninvasive prenatal molecular karyotyping from maternal plasma

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Tseung Kwan O, China

Cheuk Yin Jandy Yu