Advances in Prenatal and Postnatal Genetic Testing: Precision Diagnosis for Genetic Disorders

Dear Colleagues,

In recent decades, genetic testing has revolutionized the field of prenatal and postnatal diagnostics, offering accuracy and precision in the detection and management of inherited and de novo chromosomal abnormalities and genetic diseases. This Special Issue, "Advances in Prenatal and Postnatal Genetic Testing: Precision Diagnosis for Genetic Disorders", aims to highlight the latest innovations, clinical applications, and ethical considerations in the rapidly evolving field of medical genetics.

In this Special Issue, we welcome original research articles, reviews, and case studies that explore the development and implementation of chromosomal microarray analysis (CMA), next-generation sequencing (NGS—whole exome–whole genome sequencing), non-invasive prenatal testing (NIPT), and other cutting-edge methodologies. We encourage authors to submit manuscripts on the integration of genetic data into clinical care, genotype–phenotype correlations, diagnostic challenges, and the implications and interpretation of variants of uncertain significance (VUS).

We hope that this Special Issue will foster interdisciplinary dialogue between researchers, geneticists, clinicians, and genetic counsellors to improve diagnostic accuracy, support informed decision-making, and ultimately enhance patient outcomes. Contributions addressing the ethical, legal, and social implications (ELSI) of expanded genetic testing are also welcome. Through this collection, we aim to provide a comprehensive overview of the current landscape and future directions in prenatal and postnatal genetic diagnostics.

Dr. Spiros Vittas
Dr. Eirini Louizou
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. Genes 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 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.