ArticleJournal of clinical laboratory analysis2024
Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.
Article in Journal of clinical laboratory analysis, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 4 citations in OpenAlex.
- Trisomy 18 and Trisomy 13: A Retrospective Cohort Study at a Tertiary Hospital.Children (Basel, Switzerland) · 2026Article
- Pericentric inversion in chromosome 2 and their fertility issues: three cases report and literature review.Open medicine (Warsaw, Poland) · 2026Article
- Gut microbiota in genetic diseases: from Mendelian disorders to complex traits.Frontiers in immunology · 2026Review
- Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities.PloS one · 2026Article
- Chromosomal Roadblocks in Male Fertility: Mechanisms, Risk Factors and Syndromes.Medicina (Kaunas, Lithuania) · 2025Review
- Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.Journal of clinical laboratory analysis · 2024Article
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Authors and funding
18 authors at 1 institution in 1 country.
Funding
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Abstract
BACKGROUND AND
aimChromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations.
methodThe study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay.
resultsThe overall chromosomal abnormality rate was found to be 5.4%, with numerical abnormalities accounting for the majority of cases (61.7%). Trisomies, particularly trisomy 21, were the most frequent numerical abnormalities. In terms of structural abnormalities, inversions and translocations were the most commonly identified. The rates of chromosomal anomalies varied in specific indications such as amenorrhea, disorders of sex development, and Turner syndrome. The study also highlighted significant differences between males and females in the presence of chromosomal abnormalities across certain indications. Males exhibited a higher incidence of chromosomal abnormalities in cases of Down syndrome and infertility, whereas females showed higher abnormalities in terms of recurrent pregnancy loss.
conclusionWhile this study provides valuable insights into the frequency and distribution of chromosomal abnormalities, it has limitations, including its retrospective design and reliance on data from a single medical genetics department. Nevertheless, the findings emphasize the importance of karyotype analysis in diagnosing chromosomal disorders and providing appropriate management, while also pointing to potential gender-related variations in chromosomal abnormalities that warrant further investigation.
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