ArticleCureus2026
Spectrum and Clinical Reproductive Significance of Cytogenetic Abnormalities in Infertility and Recurrent Early Pregnancy Loss: A Five-Year Retrospective Study of 10,285 Cases.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction Cytogenetic abnormalities are a major genetic cause of infertility and recurrent early pregnancy loss (REPL), conditions that affect a substantial proportion of couples of reproductive age. Both numerical and structural chromosomal abnormalities can impair gametogenesis, fertilization, implantation, or embryonic development. This study aimed to evaluate the frequency, spectrum, and clinical relevance of chromosomal abnormalities in individuals referred for infertility, single miscarriage, or recurrent pregnancy loss (RPL). Materials and methods This large retrospective cytogenetic study analyzed 10,285 individuals referred for infertility, single miscarriage, or recurrent pregnancy loss over a five-year period. Conventional G-banded karyotyping was performed in accordance with International System for Human Cytogenomic Nomenclature (ISCN) 2025 guidelines. Chromosomal abnormalities were classified as numerical or structural, with variants further categorized by specific chromosome involvement. Data on sex distribution and abnormality patterns were summarized to identify trends and clinically significant associations. Results Among the 10,285 individuals evaluated, cytogenetic abnormalities were identified in 980 cases, representing 9.5% of the study population. The cohort demonstrated a largely balanced sex distribution, with 46,XX karyotypes observed in 5,380 cases (52.3%) and 46,XY karyotypes in 4,857 cases (47.2%). Analysis of abnormal karyotypes revealed that chromosomal variants were the most frequent finding, accounting for 514 cases (52.4%), followed by variant inversions in 94 cases (9.6%). Structural chromosomal rearrangements were commonly observed and included reciprocal translocations in 120 cases (12.2%) and Robertsonian translocations in 33 cases (3.4%), involving multiple autosomes and sex chromosomes. Sex chromosome abnormalities comprised a notable subset, with Klinefelter syndrome identified in 53 cases (5.4%), Y-chromosome inversions in 36 cases (3.7%), mosaic karyotypes in 38 cases (3.9%), isochromosome X in 18 cases (1.8%), and additional X chromosomes in 12 cases (1.2%). Other abnormalities such as derivative chromosomes (24 cases, 2.4%), deletions (13 cases, 1.3%), autosomal inversions (14 cases, 1.4%), marker chromosomes (3 cases, 0.3%), and rare duplications or insertions (one case each, 0.1%) were observed less frequently, highlighting the broad spectrum of cytogenetic abnormalities associated with infertility and recurrent pregnancy loss. Conclusion This study demonstrates that chromosomal variants and structural rearrangements constitute the majority of cytogenetic abnormalities in individuals with infertility or recurrent pregnancy loss. Although clinically significant numerical and complex structural abnormalities were less frequent, they confer substantial reproductive risk through mechanisms affecting gametogenesis, chromosomal segregation, and embryonic viability.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.