Advances in Prenatal Genetic Screening and Diagnosis

Prenatal diagnostic and screening tests are routinely offered to all women during pregnancy. In the last decade, rapid advancements have been made in prenatal genetic technologies, providing pregnant women with an unprecedented number of screening and diagnostic testing options. The karyotype has been the gold standard for decades, while the use of chromosomal microarray analysis, and more recently, next-generation sequencing approaches, has expanded the prenatal diagnostic yield considerably. First trimester combined screening (FTCS) based on maternal age, fetal nuchal translucency thickness (NT) and the serum markers β-HCG and PAPP-A has a detection rate (DR) of 90–95%, a false positive rate of 2.5–5% and a PPV of 3.4 for the detection of trisomy 21. With the clinical implementation of non-invasive prenatal testing (NIPT) in 2012, there has been a paradigm shift in prenatal screening. The presence of circulating cell-free DNA (cfDNA) from the placenta in maternal circulation was first demonstrated by Lo et al. Since its commercial launch in 2011, cfDNA-based non-invasive prenatal testing (NIPT) has permitted screening for T21, T18 and T13 with high specificity and sensitivity in both high- and low-risk populations. Using genome-wide cfDNA-based screening, all 24 chromosomes can be assessed, and rare fetal autosomal aneuploidies and segmental aneuploidies, such as deletions and duplications, can be revealed. NIPT has also been applied to determine fetal sex, fetal rhesus D (RhD) and genotyping, and more recently, it has been used for the identification of both inherited and de novo monogenic disorders.

This issue will focus on understanding the advancements in prenatal genetic testing, from chromosome aneuploidies to monogenic disorders, in both diagnostic and screening tests.

Dr. Luigia De Falco
Dr. Erica Soster
Guest Editors

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. Genes is an international peer-reviewed open access monthly 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 2600 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 screening
• circulating cell-free DNA (cfDNA)
• non-invasive prenatal testing (NIPT)
• genome-wide sequencing
• monogenic diseases