Development of the epoch-making chromosome diagnosis algorithm for the abnormal pregnancies

2014 Fiscal Year Final Research Report

• Project/Area Number: 24659742
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Obstetrics and gynecology
• Research Institution: National Research Institute for Child Health and Development
• Principal Investigator: HATA Kenichiro 独立行政法人国立成育医療研究センター, その他部局等, その他 (60360335)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 一塩基多型 / 核型診断 / 染色体診断 / 流産

Outline of Final Research Achievements

When the karyotyping of products of conception (POC) is conducted by using conventional cytogenetic methods, problems often occur because of erroneous diagnosis due to maternal cell contamination or failure of cell culture. However, those problems can be solved if the analysis uses single nucleotide polymorphism data.
In this study, we developed a method which applies the advantageous features of karyotyping using the aforementioned information from single nucleotide polymorphisms in which data correction is performed by using the linear interpolation method on the basis of the results of single nucleotide polymorphism analyses. For the POCs whose karyotyping could not be achieved accurately due to maternal cell contamination, the same method was used for the estimation of the rate of contamination by maternal DNA and for the extraction of only data from the single nucleotide polymorphism of the POCs; and this allowed for successful determination of the latter's karyotype diagnosis.

Free Research Field

産婦人科学