Recent Advances in Genomics for Prenatal Diagnosis
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: 30 June 2026 | Viewed by 1035
Special Issue Editors
2. Department of Obstetrics & Gynaecology, The University of Hong Kong, Hong Kong, China
3. Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong, China
Interests: maternal fetal medicine; genetics and genomics
2. Honorary Scientific Officer (Medical), Prince of Wales Hospital, Hospital Authority, Hong Kong SAR, China
3. Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China
4. Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong SAR, China
5. The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR, China
Interests: prenatal diagnosis; mosaicism; genome sequencing; prenatal cell-free DNA screening; genomic disorders
Special Issue Information
Dear Colleagues,
Recent advances in genetics and genomics have transformed prenatal diagnosis, enabling earlier, safer, and more precise detection of fetal abnormalities. Non-invasive prenatal testing (NIPT) now identifies microdeletions, microduplications, and sex chromosome anomalies, in addition to the common aneuploidies (Trisomy 21/18/13), as early as 9 weeks, with improved accuracy through advanced sequencing. Innovations in single-cell sequencing and fetal cell isolation from maternal blood further reduce reliance on invasive procedures like amniocentesis. Whole-exome/genome sequencing (WES/WGS) has significantly increased diagnostic yield, resolving an additional 30% of structural anomalies undetected by traditional methods such as PCR, karyotyping, and chromosomal microarrays (CMAs) after amniocentesis. CRISPR-based gene editing, though experimental, holds potential for correcting mutations in conditions like β-thalassemia. Epigenetic advances, such as methylation profiling, enhance detection of placental pathologies (e.g., preeclampsia) and imprinting disorders. AI and machine learning streamline variant interpretation and analyze fetal ultrasound patterns for genetic markers. Expanded carrier screening panels now assess 500+ genes, aiding reproductive planning. However, ethical challenges including privacy, incidental findings, and global access disparities, require robust frameworks. Integrating multi-omics (genomics, transcriptomics, and proteomics) offers holistic insights into fetal development and pregnancy complications. While these technologies revolutionize prenatal care, equitable implementation and ethical dilemmas remain critical hurdles. Future directions should focus on predictive biomarkers and personalized fetal therapies, balancing innovation with responsible clinical integration to improve perinatal outcomes.
Original articles, short communications, case reports, review articles, systematic reviews, and meta-analyses on the above topics are all welcome.
Dr. Wing-Cheong Leung
Prof. Dr. Ye Cao
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 250 words) can be sent to the Editorial Office for assessment.
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
- prenatal diagnosis
- genetics
- genomics
- NIPT
- WES
- WGS
- CRISPR
- epigenetics
- expanded carrier screening
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