作者: P.G. Scheffer
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摘要: The results presented in this thesis indicate that cell-free fetal DNA is a reliably analyte for prenatal genetic diagnosis everyday clinical practice. Already, invasive procedures solely to determine the sex or red cell antigen status belong past. Large-scale nation-wide screening programmes prediction of Rh D blood group phenotype using are place. Yet, full diagnostic potential maternal plasma remains be realised. Current advances single molecule counting techniques allow detection and identification sequences beyond those paternally inherited, bringing noninvasive variety conditions, including chromosomal aneuploidies, use near future.