Dear Colleagues,

Prenatal diagnosis and prenatal screening have undergone rapid development in recent years. The inclusion of Chromosomal Microarray Analysis (CMA) in the path of prenatal diagnosis has allowed the detection, depending on the methodology used, of cryptic genomic imbalances, which were not identified by previous techniques, varying levels of mosaicism and cases of uniparental disomy (UPD). Non-invasive prenatal testing (NIPT), that analyzes cell-free fetal DNA in maternal circulation, has had an extreme rapid development and it is widely used as a screening test for the most common chromosomal disorders, showing high sensitivity and specificity for common aneuploidies (trisomies 21, 18, 13) in high-risk women. NIPT is used for diagnosis of some recessive and X-linked conditions and for just paternally inherited dominant and de novo conditions.  Its coverage is going to be expanded to detect sex chromosome aneuploidies and subchromosomal abnormalities and, in the near future, as the cost of sequencing falls and technology develops further, there may be potential for targeted sequencing, whole exome and whole genome sequencing of not invasive samples. To capture the advances in this exciting area, Medical Sciences is pleased to announce a Special Issue on Prenatal Diagnosis, planned for publication in the Fall of 2018.

Medical Sciences seeks original, as well as review articles on all aspects of Prenatal Diagnosis. The purpose of this Special Issue is to summarize the state-of-the-art in Prenatal Diagnosis, to review the techniques currently available to diagnose genetical conditions in utero, invasive and non-invasive and to collect examples of the use of next-generation sequencing (NGS) and array comparative genomic hybridization (CGH) to solve prenatal cases. A common risk after the introduction of new technologies together with the trend of unconditional enthusiasm is to overcome the diagnostic limitations, the potential false positive and the no-call rates of a new technology, and to not take in consideration that sometimes diagnostic puzzles could be solved in a simpler way with other and previous technologies. For this reason, the journal will also consider single case or few cases reports, which are difficult to publish as such, but could be interesting for this specific aspect.

The topics of interest for this Special Issue include, but are not limited to:

• prenatal cytogenetics
• from prenatal screening to the best testing approach
• prenatal molecular cytogenetics, including FISH and microarray
• prenatal molecular genetics, including whole exome sequencing
• outcome studies of prenatally diagnosed conditions
• non-invasive prenatal test (NIPT)
• genetic counselling
• preimplantation genetic testing

Dr. Elena Rossi
Guest Editor

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 submissions that pass pre-check are 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. Medical Sciences 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 1400 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.

• prenatal diagnosis
• prenatal screening
• fetal abnormality
• amniocentesis
• chorion villus sampling
• cytogenetics
• array-CGH
• fetal DNA
• aneuploidy detection
• NIPT
• genetic counselling
• preimplantation genetic testing
• next generation sequencing

• Prenatal Diagnosis: State of the Art and Future Directions in Medical Sciences