| 摘要 |
<p>The present invention relates to a method for obtaining a set of reference samples for the diagnosis of fetal aneuploidy from a maternal biological sample, comprising; (i) extracting cell-free DNA from a set of biological samples obtained from a set of euploid pregnant women carrying a euploid fetus; (ii) analyzing the size distribution of the DNA molecules within each sample; (iii) selecting a first set of samples based on the size distribution of the DNA molecules within said samples; (iv) pre-sequencing DNA of each sample from said first set of samples; (v) mapping the sequences obtained in step (iv) to the human genome; (vi) selecting a second set of samples based on the amount of unique exact sequences mapped to the human genome in step (v); (vii) massively parallel sequencing DNA of each sample from said second set of samples; (viii) mapping the sequences obtained in step (vii) to the human genome; (ix) selecting a set of reference samples based on the number of unique exact sequences mapped to the human genome in step (viii). The present invention also relates to a method for diagnosing fetal aneuploidy and to a method for extracting cell-free DNA from a maternal biological sample containing fetal and maternal cell-free DNA.</p> |
