ORIGINAL RESEARCH article
Front. Reprod. Health
Sec. Reproductive Epidemiology
This article is part of the Research TopicMutations in Genes Associated with Abnormalities of Reproductive Development: Molecular Basis and Clinical PerspectivesView all articles
Prevalence of chromosomal abnormalities and polymorphisms in 4672 infertile patients undergoing assisted reproductive techniques in the United Arab Emirates population
Provisionally accepted
- Al Ain Fertility Center, Abu Dhabi, United Arab Emirates
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Introduction: Chromosomal abnormalities (CA) are a key genetic contributor to infertility, particularly in regions with high consanguinity. Despite growing utilization of assisted reproductive techniques (ART) in the Gulf region, large-scale cytogenetic data remain scarce. This study aimed to determine the prevalence and distribution of CA and chromosomal polymorphisms (CP) among infertile patients undergoing ART in the United Arab Emirates (UAE), providing region-specific evidence to support diagnostic decision-making and genetic counseling. Methods: A retrospective cohort analysis was performed on 4,672 infertile patients (2,193 males and 2,479 females) who underwent conventional G-banded karyotyping between 2016 and 2024 at Al Ain Fertility Center. Semen parameters for all male participants were evaluated according to World Health Organization (WHO) standards. Cytogenetic findings were categorized into numerical abnormalities, structural abnormalities, and CP. Data were stratified by gender, infertility type, semen phenotype, and marital consanguinity (couple-level). Results: A total of 305 patients (6.5%) showed CA or CP. The prevalence of abnormalities was higher in males, with sex-chromosome aneuploidies and autosomal structural rearrangements more frequently observed among azoospermic and severely oligozoospermic men. Consanguinity (marital relatedness) was descriptively compared across couple-level karyotype groups. The proportion of consanguineous couples was 39% (644/1,639) in the normal karyotype group, 34.6% (8/24) among couples with CA, and 45.1% (40/88) among couples with CP, with no statistically significant differences between groups. These findings reinforce the diagnostic value of karyotyping, particularly in males with severe sperm abnormalities. Discussion/Conclusion: This study represents the largest cytogenetic dataset on infertile patients in the UAE and the wider Gulf region, offering population-specific insights into chromosomal determinants of infertility. Routine karyotyping especially for azoospermic men remains essential for accurate diagnosis, informed counseling, and optimized ART planning. These findings provide UAE-specific prevalence data and support risk-stratified counseling; however, the consanguinity analysis reflects marital consanguinity within couples and does not assess parental consanguinity or causality.
Keywords: Assisted reproductive techniques (ART), Chromosomal abnormalities, Chromosomal polymorphisms, Infertility, Karyotyping
Received: 20 Nov 2025; Accepted: 02 Jan 2026.
Copyright: © 2026 Upadhyay, Varghese, Anandt, Albuz and Peramo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Braulio Peramo
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