Special Issue "Advance in Prenatal Diagnosis"


A special issue of Diagnostics (ISSN 2075-4418).

Deadline for manuscript submissions: closed (28 February 2013)

Special Issue Editor

Guest Editor
Prof. Dr. Sinuhe Hahn
Department of Biomedicine, University Hospital Basel, Hebelstrasse 20, CH - 4031 Basel, Switzerland
Website: http://biomedizin.unibas.ch/about-us/people/profil/profile/person/hahn/
E-Mail: shahn@uhbs.ch
Interests: prenatal diagnosis; cell-free DNA; proteomics; pregnancy-related disorders; innate immunology

Special Issue Information

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


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. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as 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 refereed through a 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. For the first couple of issues the Article Processing Charge (APC) will be waived for well-prepared manuscripts. English correction and/or formatting fees of 250 CHF (Swiss Francs) will be charged in certain cases for those articles accepted for publication that require extensive additional formatting and/or English corrections.


  • NIPD (non-invasive prenatal diagnosis)
  • cell-free DNA
  • aneuploidy
  • next generation sequencing
  • array technology

Published Papers (3 papers)

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Displaying article 1-3
p. 291-314
by , , ,  and
Diagnostics 2013, 3(2), 291-314; doi:10.3390/diagnostics3020291
Received: 10 April 2013 / Revised: 14 May 2013 / Accepted: 16 May 2013 / Published: 31 May 2013
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(This article belongs to the Special Issue Advance in Prenatal Diagnosis)
p. 283-290
by , , , , , ,  and
Diagnostics 2013, 3(2), 283-290; doi:10.3390/diagnostics3020283
Received: 15 March 2013 / Revised: 26 April 2013 / Accepted: 6 May 2013 / Published: 15 May 2013
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(This article belongs to the Special Issue Advance in Prenatal Diagnosis)
p. 57-71
by , , , ,  and
Diagnostics 2012, 2(4), 57-71; doi:10.3390/diagnostics2040057
Received: 2 October 2012 / Revised: 31 October 2012 / Accepted: 13 November 2012 / Published: 19 November 2012
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(This article belongs to the Special Issue Advance in Prenatal Diagnosis)
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Last update: 7 February 2013

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