Topic: Innovations in Reproductive Genetics and Genomics

Reproductive genetics and genomics have rapidly transformed reproductive medicine, offering unprecedented insights into the mechanisms of fertility, embryonic development, and genetic diseases. The clinical application of these technologies provides profound opportunities for prospective parents, enabling informed decision-making and improving reproductive outcomes. As our understanding of the genome deepens and technologies evolve, the field is continuously pushing the boundaries of what is possible, from enhanced screening methods to novel diagnostic paradigms.

However, the rapid pace of innovation also presents significant challenges. The clinical interpretation of genetic variants, the validation of new technologies for clinical use, and the navigation of associated ethical, legal, and social implications require careful consideration. There is a pressing need for robust clinical guidelines, expert consensus, and a deeper understanding of the fundamental genetic mechanisms underlying reproductive failures such as infertility and recurrent pregnancy loss.

This special issue aims to bring together cutting-edge research and expert reviews that highlight the latest advancements in reproductive genetics and genomics. We invite the submission of original research and review articles  that explore novel diagnostic technologies, uncover the genetic etiology of reproductive disorders, and address the clinical implementation and oversight of these powerful tools. The goal is to create a collection of articles that will inform both clinicians and researchers and help shape the future of reproductive health.

Suggested Subtopics:

● Novel technologies in reproductive genetic testing (e.g., long-read sequencing, optical genome mapping);

● Advances and new applications in Preimplantation Genetic Testing (PGT), including PGT-A, PGT-M, PGT-SR, and non-invasive PGT (niPGT);

● Reproductive carrier screening: strategies, clinical utility, and implementation challenges;

● Genetic and genomic mechanisms of male and female infertility;

● Genomic insights into the etiology of recurrent pregnancy loss (RPL) and stillbirth;

● Molecular regulation and genetic control of early human embryonic development;

● Clinicalinterpretation for genetic variants and gene-disease validity;

● Development and application of expert consensus and professional guidelines in reproductive genetics;

● Ethical, legal, and social implications (ELSI) of emerging reproductive technologies.

Reproductive genetics and genomics, preimplantation genetic testing (PGT), infertility, carrier screening, early embryonic development, reproductive Medicine