title: Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met?
abstract: 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 β-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.
authors.affiliation: Laboratory for Prenatal Medicine, Department of Biomedicine, University Hospital Basel, Switzerland. shahn@uhbs.ch
authors.forename: Sinuhe
authors.initials: S
authors.lastname: Hahn
authors.forename: Olav
authors.initials: O
authors.lastname: Lapaire
authors.forename: Sevgi
authors.initials: S
authors.lastname: Tercanli
authors.forename: Varaprasad
authors.initials: V
authors.lastname: Kolla
authors.forename: Irene
authors.initials: I
authors.lastname: Hösli
mesh_terms: D002869:Chromosome Aberrations; D004247:DNA / Q000032:analysis*; D005260:Female; D005333:Fetus / Q000378:metabolism*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA