Special Issue "Prenatal Genetic Screening and Diagnosis"
A special issue of Journal of Clinical Medicine (ISSN 2077-0383).
Deadline for manuscript submissions: closed (20 February 2014)
Prof. Dr. Peter Benn
Department of Genetics and Developmental Biology, University of Connecticut Health Center, 263 Farmington Avenue, L1049, Farmington, CT 06030-3808, USA
Phone: +860 679 3614
Fax: +860 679 3616
Interests: prenatal screening and diagnosis; non-invasive prenatal testing; cytogenetics; microarray; pregnancy biomarkers
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
Interests: prenatal screening and diagnosis; genetic counseling; carrier screening; non-invasive prenatal screening
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
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.
- maternal serum
- non-invasive testing
- genetic disorders
Creative: Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity
J. Clin. Med. 2014, 3(1), 144-152; doi:10.3390/jcm3010144
Received: 27 December 2013; in revised form: 6 January 2014 / Accepted: 7 January 2014 / Published: 21 January 2014| Download PDF Full-text (270 KB) | Download XML Full-text
J. Clin. Med. 2014, 3(1), 167-175; doi:10.3390/jcm3010167
Received: 20 December 2013; in revised form: 17 January 2014 / Accepted: 20 January 2014 / Published: 28 January 2014| Download PDF Full-text (360 KB)
Article: Preferences for Prenatal Tests for Cystic Fibrosis: A Discrete Choice Experiment to Compare the Views of Adult Patients, Carriers of Cystic Fibrosis and Health Professionals
J. Clin. Med. 2014, 3(1), 176-190; doi:10.3390/jcm3010176
Received: 3 January 2014; in revised form: 19 January 2014 / Accepted: 20 January 2014 / Published: 14 February 2014| Download PDF Full-text (217 KB) | Download XML Full-text | Supplementary Files
Last update: 2 September 2013