Special Issue "Advance in Prenatal Diagnosis"
A special issue of Diagnostics (ISSN 2075-4418).
Deadline for manuscript submissions: closed (28 February 2013)
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
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access quarterly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 550 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- NIPD (non-invasive prenatal diagnosis)
- cell-free DNA
- next generation sequencing
- array technology