Recent Advances in Genomics for Prenatal Diagnosis

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

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