Advance in Prenatal Diagnosis

Dear Colleagues,

Prenatal diagnosis has recently seen a transformation on several fronts, facilitated by cutting edge molecular biological developments. On the one hand the advent of next generation sequencing for the analysis of cell-free DNA in maternal plasma has finally permitted the non-invasive determination of fetal genetic disorders such as aneuploidies, with services launched for these tests on a world-wide basis. It also appears that this approach may be useful for the detection of Mendelian disorders such as the hemoglobinopathies, which will be a great benefit to populations with high degrees of carrier incidence.

On the other hand, high density arrays have permitted a degree of diagnostic precision on fetal material gained by invasive means not previously thought possible. The application of next generation sequencing for this purpose may shed new light into the origin and consequence of de novo mutations. In this manner, it may even become possible to detect disorders having complex multifactorial traits, such as paternal contribution to fetal autism.

This special issue will highlight several of these key developments.

Prof. Dr. Sinuhe Hahn
Guest Editor

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