The Chinese University of Hong Kong

Stephen Siu Chung Chim

Rossa Wai Kwun Chiu

Chunming Ding

Yuk Ming Dennis Lo

Yuk-Ming Dennis Lo

Kwan Chee Chan

Ka Chun Ryan Yuen

Hing Nam Ivy Wong

Nancy Bo Yin Tsui

Yu-Kwan Tong

Yu-kwan Tong

Wai Kwun Rossa Chiu

Shengnan Jin

Tracy Yuen Han Lee

Fiona Miu Fun Lun

The present invention relates to new methods for diagnosing a pregnancy-associated disorder by analyzing fetal DNA present in the mother's blood. More specifically, this invention relies on the discovery that the maspin gene is differentially methylated in fetal DNA and in maternal DNA and provides these new diagnostic methods, which distinguish fetal DNA from maternal DNA and detect prenatal disorders based on abnormalities in fetal DNA level and methylation status.

Marker for prenatal diagnosis and monitoring

Methods and kits are provided for diagnosing, monitoring, or predicting preeclaimpsia in a pregnant woman, trisomy 18 and trisomy 21 in a fetus, as well as for detecting pregnancy in a woman, by quantitatively measuring in the maternal blood the amount of one or more RNA species derived from a set of genetic loci and comparing the amount of the RNA species with a standard control.

Markers for prenatal diagnosis and monitoring

This application describes the discovery that, in a pregnant woman, certain genes (such as RASSF1A, APC, CASP8, RARB, SCGB3A1, DAB2IP, PTPN6, THY1, TMEFF2, and PYCARD) originated from a fetus are highly methylated, whereas the same genes of maternal origin are unmethylated. This discovery allows the easy detection of one or more of these methylated fetal genes in a biological sample from a pregnant woman, serving as a universal indicator of the presence of fetal DNA in the sample. These fetal methylation markers are particularly useful as positive controls for a non-invasive analytical process during which the quality and quantity of fetal DNA are monitored. These newly identified fetal markers can also be measured directly for diagnosis of certain pregnancy-related conditions.

Fetal methylation markers

Methods for detecting fetal DNA in a plasma or serum sample from a pregnant woman

This application provides the use of novel fetal markers for prenatal diagnosis and monitoring of certain pregnancy-related conditions. More specifically, the invention resides in the discovery that certain CpG islands located on fetal chromosome 21 demonstrate a methylation profile that is distinct from that of the corresponding CpG islands located on maternal chromosome 21. This application also provides kits for diagnosing or monitoring of the relevant conditions.

Growing community of inventors

Hong Kong, China

Stephen Siu Chung Chim