Special Issue "Prenatal Genetic Screening and Diagnosis-Part 1"


A special issue of Journal of Clinical Medicine (ISSN 2077-0383).

Deadline for manuscript submissions: closed (20 February 2014)

Special Issue Editors

Guest Editor
Prof. Dr. Peter Benn
Department of Genetics and Developmental Biology, University of Connecticut Health Center, 263 Farmington Avenue, L1049, Farmington, CT 06030-3808, USA
Website: http://facultydirectory.uchc.edu/profile?profileId=Benn-Peter
E-Mail: benn@nso1.uchc.edu
Phone: +860 679 3614
Fax: +860 679 3616
Interests: prenatal screening and diagnosis; non-invasive prenatal testing; cytogenetics; microarray; pregnancy biomarkers

Guest Editor
Prof. Dr. Eugene Pergament
Northwestern Reproductive Genetics, ReproGenetics Research and Department of Obstetrics and Gynecology, School of Medicine, Northwestern University, 680 North Lake Shore Drive, Suite 1230, Chicago, IL 60611, USA
Website: http://www.northwesternreproductivegenetics.com
E-Mail: epergament@gmail.com
Interests: prenatal screening and diagnosis; genetic counseling; carrier screening; non-invasive prenatal screening

Special Issue Information

Dear Colleagues,

For the past five decades, there has been an increasing pace of progress in screening and diagnosis of genetic disorders in the fetus. Biochemical tests on maternal serum and ultrasound identification of fetal abnormalities and biomarkers currently provide the basis for identifying high-risk pregnancies. The ability to analyze cell-free DNA in maternal plasma now provides the opportunity to further test for fetal aneuploidy and some single gene disorders. Definitive diagnosis still requires invasive sampling methods (amniocentesis and chorionic villus sampling) but this testing has been substantially enhanced through the addition of chromosome and single nucleotide polymorphism (SNP) microarrays so that now small copy number changes (microdeltions/microduplications) can be reliably detected. Pre-implementation genetic testing has also benefited from the application of advances in molecular genetics with an expanded number of mutations and imbalances identifiable in embryos. In the near future, it is expected that DNA sequencing will provide unprecedented levels of information about the fetal genome in regard to form (physical structure) and function (behavior). How these technical advances will be introduced into obstetric care raises significant ethical, legal and moral challenges and clinical services will likely vary considerably in different healthcare settings.

This Special Issue compiles articles that reflect the current state-of-the-art and are also indicative of some of the anticipated advances in prenatal screening and diagnosis.

Prof. Dr. Peter Benn
Prof. Dr. Eugene Pergament
Guest Editors


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. Journal of Clinical Medicine 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.


  • prenatal
  • maternal serum
  • ultrasound
  • non-invasive testing
  • microarray
  • aneuploidy
  • genetic disorders
  • pre-implantation

Published Papers (3 papers)

J. Clin. Med. 2014, 3(2), 537-565; doi:10.3390/jcm3020537
Received: 20 February 2014; in revised form: 11 April 2014 / Accepted: 14 April 2014 / Published: 21 May 2014
Show/Hide Abstract | PDF Full-text (306 KB) | HTML Full-text | XML Full-text
abstract graphic

J. Clin. Med. 2014, 3(2), 504-520; doi:10.3390/jcm3020504
Received: 24 February 2014; in revised form: 28 March 2014 / Accepted: 28 March 2014 / Published: 9 May 2014
Show/Hide Abstract | PDF Full-text (221 KB) | HTML Full-text | XML Full-text

J. Clin. Med. 2014, 3(1), 280-309; doi:10.3390/jcm3010280
Received: 22 January 2014; in revised form: 12 February 2014 / Accepted: 18 February 2014 / Published: 17 March 2014
Show/Hide Abstract | PDF Full-text (673 KB) | HTML Full-text | XML Full-text
abstract graphic

Last update: 11 March 2014

J. Clin. Med. EISSN 2077-0383 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert