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Advances in Human Reproductive and Prenatal Genetics
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Advances in Human Reproductive and Prenatal Genetics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 15 October 2026 | Viewed by 1763

Special Issue Editor

Dr. Edith Said

E-Mail Website
Guest Editor
Department of Anatomy, Faculty of Medicine & Surgery, University of Malta, 2080 Msida MSD, Malta
Interests: medical genetics

Special Issue Information

Dear Colleagues,

Reproductive genetics has advanced significantly in recent years, particularly our understanding of the genetics behind embryological development in the fetus. The availability of advanced molecular genetic technologies has expanded the role of genetic intervention in this field from preconception to antenatal testing. Genetic consultation and testing have become integral in managing couples facing reproductive challenges. Genetic investigation in couples facing reproductive challenges such as infertility and recurrent pregnancy loss has enabled the etiology to be identified more accurately, allowing couple-specific intervention. Preconception genetic testing is available to couples and represents an ethically acceptable preventive screen. Genetic testing has helped to increase the success of assisted reproductive technologies. Pre-implantation genetic testing using various molecular technologies is possible for embryos at risk of being affected by inherited disorders, screening for chromosomal and genetic conditions. Non-invasive prenatal testing has advanced the detection of genetic disorders and chromosomal syndromes. Ethical and legal issues, along with availability, must be considered in genetic investigations into reproductive issues.

This Special Issue will share current knowledge and advances in the field of reproductive genetics and prenatal genetics. We invite you to submit articles or reviews on this subject.

Dr. Edith Said
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. 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.

Keywords

  • reproductive genetics
  • female infertility
  • male infertility
  • recurrent pregnancy loss
  • preconception genetic testing
  • pre-implantation genetic testing
  • prenatal genetics
  • non-invasive prenatal testing
  • molecular genetics
  • cytogenetics
  • molecular cytogenetics

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Published Papers (1 paper)

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Research

19 pages, 948 KB  
Article
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges
by Andrei S. Glotov, Yulia A. Nasykhova, Tatyana E. Lazareva, Natalya M. Dvoynova, Elena S. Shabanova, Maria M. Danilova, Natalia S. Osinovskaya, Yury A. Barbitoff, Marianna A. Maretina, Elizaveta E. Gorodnicheva, Ziravard N. Tonyan, Anton V. Kiselev, Anastasiia A. Basipova, Olesya N. Bespalova and Igor Yu. Kogan
Genes 2026, 17(1), 3; https://doi.org/10.3390/genes17010003 - 19 Dec 2025
Cited by 1 | Viewed by 1340
Abstract
Background/Objectives: This study reports on findings from the first preconception screening performed in Russia and provides a comprehensive discussion of the significant results and challenges faced during the implementation of the project. Methods: Using a targeted sequencing panel of 33 genes [...] Read more.
Background/Objectives: This study reports on findings from the first preconception screening performed in Russia and provides a comprehensive discussion of the significant results and challenges faced during the implementation of the project. Methods: Using a targeted sequencing panel of 33 genes (associated with 29 autosomal recessive and 4 X-linked diseases), we analyzed 165 couples considering pregnancy. The screening design also included analysis of the frequent pathogenic variants in the SMN1, DMD, CFTR, and CYP21A2 genes that may not be detected through the next-generation sequencing approach. The sequential screening protocol, wherein the female partner was tested first, was used. Results: The results revealed that 35.8% of women (n = 59) were carriers of at least one pathogenic or likely pathogenic (P/LP) variant, with 7.9% of women (n = 13) carrying variants in two or more genes. Notably, the analysis identified 5 deletions of exon 7 in the SMN1 gene, 1 deletion of the CYP21A2 gene, and 1 large duplication in the DMD gene in female participants. The most frequently identified pathogenic variants occurred in the CYP21A2, GJB2, SERPINA1, and ATP7B genes. The screening identified six couples (3.6% of the cohort) at high risk of having a child with an autosomal recessive or X-linked genetic disorder. Conclusions: This pilot study confirms the high clinical utility of the gene panel, effectively evaluating reproductive risk in couples without a known family history of monogenic diseases. The findings indicate that the observed frequencies of identified gene variants differ from those theoretically expected, with a notable percentage of identified couples being at relatively high risk. Furthermore, these results highlight the indispensable role of comprehensive genetic counseling both before and after testing to ensure an appropriate preconception testing algorithm and informed reproductive decision-making. Full article
(This article belongs to the Special Issue Advances in Human Reproductive and Prenatal Genetics)
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