Prenatal Diagnosis: Current Challenges and Future Perspectives

Dear Colleagues,

Prenatal diagnosis has undergone a major transformation in recent decades, evolving from basic ultrasound and invasive procedures to highly sophisticated molecular and imaging technologies. The introduction of non-invasive prenatal testing, advances in genomic sequencing, and improvements in imaging modalities have greatly expanded our ability to detect fetal anomalies and genetic conditions earlier and more accurately. Despite these remarkable advances, challenges remain in terms of clinical implementation, the interpretation of complex data, ethical considerations, equitable access, and integration into healthcare systems worldwide. This Special Issue will build upon this rich history to explore how current practices are being reshaped by cutting-edge innovations and what the future may hold for prenatal care.

The aim of this Special Issue is to provide a comprehensive platform for discussing both the achievements and the unresolved challenges in prenatal diagnosis. The scope encompasses current technologies, novel approaches, ethical frameworks, and policy implications, with a strong focus on translating innovation into clinical benefit. Topics of interest include (but are not limited to) the following:

• Advances in prenatal imaging and molecular diagnostics;
• Applications of genomics, epigenomics, and proteomics in early fetal assessment;
• Ethical, social, and psychological dimensions of prenatal testing;
• Artificial intelligence and digital health tools in diagnostic workflows;
• Clinical translation and global access disparities;
• Future directions for personalized and precision prenatal medicine.

This Special Issue will showcase research that expands the frontiers in prenatal diagnosis, such as in the following areas:

• The integration of multi-omics and machine learning for improved predictive accuracy;
• Novel biomarkers for the early detection of fetal and maternal complications;
• High-resolution imaging innovations for structural and functional assessment;
• Emerging non-invasive approaches beyond current NIPT capabilities;
• Clinical trials and translational studies bridging laboratory discoveries and patient care.

We welcome a wide range of contributions, including the following paper types:

• Original research articlespresenting novel findings in prenatal diagnostics;
• Comprehensive reviewssynthesizing progress and future perspectives;
• Clinical studies and highlighting real-world challenges and solutions;
• Methodological papersdescribing innovative diagnostic tools and techniques.

By showcasing a diverse range of contributions, this Special Issue will serve as a valuable reference for clinicians, researchers, policymakers, and allied healthcare professionals invested in the future of maternal–fetal medicine.

Dr. Yaron Zalel
Dr. Kristiina Rull
Guest Editors

Dr. Natalija Vedmedovska
Guest Editor Assistant

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. Medicina 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 2200 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
• non-invasive prenatal testing
• fetal imaging
• genomic medicine
• multiomics
• artificial intelligence in prenatal care
• maternal–fetal health