Fetal Genetic Disorders: Prenatal Genomics for Diagnosis and Clinical Management

Dear Colleagues,

In recent years, genomic technologies have profoundly improved our ability to investigate fetal genetic conditions. The identification and classification of pathogenic variants now represent a cornerstone for understanding the molecular basis of congenital disorders.

Aim and Scope:
This Special Issue aims to explore the diagnostic power of comprehensive genomic analysis in the prenatal setting. The focus is on how these approaches contribute to early and accurate detection of genetic abnormalities, supporting both clinical management and genetic counseling.

History:
Traditional cytogenetic and molecular tests have long been used in prenatal diagnosis, but their resolution and scope were limited. The introduction of genome-wide strategies has significantly increased diagnostic yield and broadened our understanding of prenatal disorders.

Cutting-Edge Research:
Current advances emphasize the integration of large-scale variant analysis, improved classification frameworks, and refined bioinformatic tools. These developments are leading to greater accuracy, faster turnaround, and deeper clinical impact in prenatal diagnosis.

The types of papers we are soliciting:
We invite original research articles, case studies, and reviews focusing on prenatal diagnosis through comprehensive genomic testing, variant interpretation, and translational applications. Studies addressing therapeutic perspectives, including in utero interventions and early postnatal treatments informed by genomic discoveries, are particularly welcome.

Dr. Katia Margiotti
Guest Editor

Manuscript Submission Information

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