Diagnostic Advances in Genetics, Genomics, and the Microbiome for Reproductive Disorders and Recurrent Implantation Failure

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 30 May 2026

Special Issue Editor


E-Mail Website
Guest Editor
Origyn Fertility Center, 3C Palace Street, 700032 Iasi, Romania
Interests: reproductive tract microbiota; reproductive biology; genetic abnormalities; fertility manipulation; biotechnology; experimental models
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are pleased to announce a Special Issue of Diagnostics entitled “Diagnostic Advances in Genetics, Genomics, and the Microbiome for Reproductive Disorders and Recurrent Implantation Failure.” Reproductive disorders—including infertility, recurrent implantation failure (RIF), recurrent pregnancy loss (RPL), endometriosis (EMS), polycystic ovary syndrome (PCOS), and congenital anomalies of the reproductive tract—pose significant diagnostic and therapeutic challenges. Recent progress in genomics, epigenetics, and high-throughput sequencing has substantially enhanced our capacity to identify genetic risk factors and elucidate the molecular mechanisms driving these conditions. Concurrently, the reproductive tract microbiome has emerged as a crucial diagnostic and prognostic factor, with dysbiosis increasingly linked to implantation failure, adverse pregnancy outcomes, and the pathogenesis of various gynecological diseases. However, translating these discoveries into reliable diagnostic tools and effective clinical strategies remains a pressing challenge, with numerous pathogenic pathways still incompletely characterized.

This Special Issue aims to showcase cutting-edge research that integrates genetics, genomics, epigenetics, and microbiome science to advance diagnostic accuracy, prognostic assessment, and personalized therapeutic approaches in reproductive medicine. We invite the submission of original research articles, reviews, and clinical studies that address, but are not limited to, the following topics:

  • Genetic and genomic risk factors, including findings from genome-wide association studies (GWAS) and rare variant analyses
  • Epigenetic mechanisms and transcriptomic/proteomic profiling for disease stratification
  • Microbiome dysbiosis as a diagnostic biomarker in infertility, RIF, RPL, and EMS
  • Gene-environment and host-microbiome interactions in the context of diagnostic applications

Dr. Ovidiu Dumitru Ilie
Guest Editor

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

  • Reproductive disorders
  • Recurrent implantation failure (RIF)
  • Recurrent pregnancy loss (RPL)
  • Genetics and genomics
  • Epigenetics
  • Microbiome dysbiosis
  • Molecular diagnostics
  • Personalized reproductive medicine

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Published Papers

This special issue is now open for submission.
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