Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met?

被引:27
作者
Hahn, Sinuhe [1 ]
Lapaire, Olav
Tercanli, Sevgi
Kolla, Varaprasad [1 ]
Hoesli, Irene
机构
[1] Univ Basel Hosp, Lab Prenatal Med, Dept Biomed, Dept Obstet & Gynecol, CH-4031 Basel, Switzerland
来源
EXPERT REVIEWS IN MOLECULAR MEDICINE | 2011年 / 13卷
关键词
NONINVASIVE-PRENATAL-DIAGNOSIS; CELL-FREE DNA; FREE BETA-HCG; PERIPHERAL-BLOOD; AUTOMATED MICROSCOPY; NUCHAL TRANSLUCENCY; SIZE DISTRIBUTIONS; PROTEOMIC ANALYSIS; CIRCULATORY DNA; AMNIOTIC-FLUID;
D O I
10.1017/S1462399411001852
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The analysis of cell-free fetal nucleic acids in maternal blood for prenatal diagnosis has been transformed by several recent profound technology developments. The most noteworthy of these are 'digital PCR' and 'next-generation sequencing' (NGS), which might finally deliver the long-sought goal of noninvasive detection of fetal aneuploidy. Recent data, however, indicate that NGS might even be able to offer a much more detailed appraisal of the fetal genome, including paternal and maternal inheritance of point mutations for mendelian disorders such as beta-thalassaemia. Although these developments are very exciting, in their current form they are still too complex and costly, and will need to be simplified considerably for their optimal translation to the clinic. In this regard, targeted NGS does appear to be a step in the right direction, although this should be seen in the context of ongoing progress with the isolation of fetal cells and with proteomic screening markers.
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页数:14
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