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Analysis of chromosomal abnormalities associated with early pregnancy loss

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical Genetics
  • Secondary Categories:
    • Clinical Genetics
Introduction:
Early pregnancy loss is the most common complication in first-trimester pregnancy, with an incidence of 10–15% among all clinically recognized pregnancies. The aetiology of miscarriage is multifactorial, with predominant factors including genetic, maternal, and environmental influences. This study aimed to explore the contribution of pathogenic copy number variations (CNVs) associated with miscarriages among the abortus obtained from first-trimester pregnancy loss.

 

Methods:
This retrospective analysis included 100 miscarriage cases over 2 years from 2022 to 2024 in My Duc hospital. Chromosomal anomalies were analyzed using CNV sequencing, with fluorescence in situ hybridization (FISH) performed if mosaicism was suspected.

 

Results:
Ninety of the 100 (90%) cases without significant maternal-cell contamination yielded results. Chromosomal abnormalities were identified in 27.8% (25/90) of cases. A total of 30 CNVs were discovered among 25 cases, of which 93% (28/30) were pathogenic. Trisomy 21 accounted for the largest proportion, with 33.3% (10/30 cases). Of all the variants detected by CNV sequencing, three were chromosome structural anomalies (one pathogenic variant and two variants of uncertain significance), and 27 were numerical chromosomal abnormalities.

 

Conclusion:
Our research indicates that chromosomal abnormalities play a role in miscarriages, but it is challenging to determine the importance of microdeletions or duplications due to their rare prevalence. Our data emphasize the necessity of CNV analysis in EPL.

 

Agenda

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