Special Issue

Chromosomal Abnormalities and Infertility

Submission Deadline: July 31, 2025 (Open) Submit Now

Guest Editor

Elisavet Kouvidi, PhD

Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece

Website | E-Mail

Research interests: cytogenetics, chromosomes, infertility, IVF.

About This Topic

Infertility is defined as the failure of a couple to achieve a clinical pregnancy after 12 months of regular unprotected sexual intercourse. Approximately 1 in 6 couples face infertility problems worldwide. Chromosomal abnormalities (numerical or structural) are one of the most common genetic causes of infertility and their incidence in couples with infertility could reach 15% significantly higher than in the general population. The most common numerical chromosomal abnormalities in couples with infertility are Klinefelter syndrome (47,XXY) in males and Turner syndrome (45,Χ0) in females. A frequent finding is the low-level X chromosome aneuploidy in a mosaic form in women of advanced age, which should be taken into consideration when counselling couples. Structural abnormalities include balanced (reciprocal or Robertsonian) translocations and inversions and although carriers have a normal phenotype, they have a high risk of producing abnormal embryos. Carriers of a chromosomal abnormality should be offered genetic counselling by a geneticist to help them understand the specific finding and propose available options, such as prenatal or preimplantation testing.

I would like to invite you to contribute to the Special Issue entitled “Chromosomal Abnormalities and Infertility”. Original research papers, reviews, editorial, short communications, case reports and perspectives are all welcome for submission.

Manuscript Submission Information

Manuscripts should be submitted through the LIDSEN Submission System. Detailed information on manuscript preparation and submission is available in the Instructions for Authors. All submitted articles will be thoroughly refereed through a single-blind peer-review process and will be processed following the Editorial Process and Quality Control policy. Upon acceptance, the article will be immediately published in a regular issue of the journal and will be listed together on the special issue website, with a label that the article belongs to the Special Issue. LIDSEN distributes articles under the Creative Commons Attribution (CC BY 4.0) License in an open-access model. The authors own the copyright to the article, and the article can be free to access, distribute, and reuse provided that the original work is correctly cited.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). Research articles and review articles are highly invited. Authors are encouraged to send the tentative title and abstract of the planned paper to the Editorial Office (genetics@lidsen.com) for record. If you have any questions, please do not hesitate to contact the Editorial Office.

Welcome your submission!

Publication

Open Access Review Status of Azoospermia in Saudi Arabia: A Retrospective Narrative Mini-Review by Meshari A. Alzahrani  , Mohammad A. Alghafees  , Lama H. Aldosari  , Abdulaziz K. Almaymuni  , Abdulltaif M. Altalhah  , Mohammed M. Abualgasem  and Basel O. Hakami Received: 19 April 2024;  Published: 30 September 2024;  doi: 10.21926/obm.genet.2403265 Abstract The total lack of spermatozoa in the ejaculate is known as Azoospermia. It is the most severe and significant contributor to male infertility. Therefore, the purpose of this study is to assess the status of Azoospermia and its etiologic factors that contribute to male infertility in Saudi Arabia.

Open Access Original Research Investigating Cytogenetic Profiles in Couples Experiencing Recurrent Implantation Failure Post in vitro Fertilization by Bojana Petrovic  , Milica Komnenic Radovanovic  , Nikolina Erceg  , Srboljub Milicevic  and Marija Dusanovic Pjevic Received: 22 November 2023;  Published: 17 January 2024;  doi: 10.21926/obm.genet.2401211 Abstract This study evaluates how chromosomal factors affect assisted reproduction techniques (ART) challenges among infertile couples, impacting their chances of conception. Chromosomal abnormalities, a leading cause of pregnancy failure and miscarriages, were investigated in a four-year retrospective study involving 100 patients with a history of [...]

Open Access Original Research Chromosomal Abnormalities in Infertile Greek Men: A Single Institution’s Experience by Elisavet Kouvidi  , Haralambia Tsarouha  , Christina Katsidi  , Sophia Zachaki  , Nikolaos Nitsos  , Sofia Samourgianidi  , Amelia Pantou  , Lazaros Leandros  , Emmanouel Kanavakis  and Ariadni Mavrou Received: 21 October 2022;  Published: 08 February 2023;  doi: 10.21926/obm.genet.2301178 Abstract Chromosomal abnormalities represent a significant genetic cause of male infertility because they impair spermatogenesis. The objective of the current study was to determine the prevalence and distribution of chromosomal abnormalities in Greek men with infertility. Four hundred eighty-eight infertile men (27 azoospermic, 168 with [...]