Recent Advances in Prenatal Diagnosis and Clinical Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Medical Imaging and Theranostics".

Deadline for manuscript submissions: 31 December 2025 | Viewed by 30

Special Issue Editor


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Guest Editor
Twin Pregnancy Unit, Gynecology and Obstetrics 2U, A.O.U. Città della Salute e della Scienza, Sant’Anna Hospital, University of Turin, 10126 Turin, Italy
Interests: multiple pregnancy; ultrasound; prenatal diagnosis; pregnancy complications; high-risk pregnancy
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Special Issue Information

Dear Colleagues,

This Special Issue, on advances in prenatal diagnosis, spotlights pivotal innovations in diagnostic technologies and methodologies revolutionizing early fetal health assessment. By integrating non-invasive prenatal testing (NIPT) enhancements (e.g., cfDNA methylation profiling, low-coverage whole-genome sequencing), advanced fetal imaging (AI-driven ultrasound automation, MRI-based volumetric anomaly detection), and multi-omics biomarkers (proteomic, metabolomic, and epigenomic signatures), the collection elevates the detection sensitivity and specificity for chromosomal abnormalities (e.g., aneuploidies, microdeletions), monogenic disorders, structural malformations, and placental dysfunction.  Through rigorous evaluation of diagnostic accuracy, cost-effectiveness, and scalability, this Special Issue provides clinicians, geneticists, and public health practitioners with actionable evidence to streamline prenatal screening pathways, minimize diagnostic ambiguity, and align genetic information with culturally sensitive, family-centered care.

Dr. Silvana Arduino
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. Diagnostics is an international peer-reviewed open access semimonthly 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.

Keywords

  • ultrasound
  • prenatal diagnosis
  • intrauterine fetal growth restriction
  • monochorionic twins
  • perinatal morbidity
  • maternal complications

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Published Papers

This special issue is now open for submission.
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