Cytogenetic analysis of 132 products of conception after spontaneous abortions and fetal death in utero
DOI:
https://doi.org/10.12923/cipms-2025-0006Keywords:
spontaneous abortion, cytogenetic analysis, chromosomal abnormalitiesAbstract
Spontaneous abortion is the most common pregnancy related complication, and more than half of these pregnancy losses are attributed to chromosomal abnormalities. Cytogenetic analysis of spontaneous abortion products provides valuable information on the nature and frequency of chromosomal abnormalities in various populations, their origin and the risk of recurrence in a population. Characterization of chromosomal abnormalities in spontaneous miscarriages or fetal deaths using both classical and molecular cytogenetics to discover the incidence and types of chromosomal aberrations. One hundred and thirty-two samples derived from cases of spontaneous abortion and fetal death in utero were sent for analysis to the medical cytogenetics department of Clermont-Ferrand (France) between January 2011 and December 2015. The various specimens were carefully dissected and cultured to produce karyotypes. In case of culture failure or microbial contamination, a Bac en Beads analysis (BoBs™) has been performed. All abnormalities detected by caryotype or BoBs™ were confirmed by Fluorescent In Situ Hybridization Cytogenetic analysis was successfully performed in 89% of cases (117/132). For normal karyotypes, male-female ratio was 0.81. Twenty-five karyotypes involved chromosomal rearrangement, which represents 21.4% of all cases (25/117). Karyotype failed in 41% of all issues (54/132). A BoBs™ analysis was performed when cultures failed; it was found to be uninformative in 15 cases and revealed 2 chromosomal abnormalities.
The average gestational age in aberrant karyotypes was 17.12±8.89 SA, while the average age of mothers was 31.55±6.67 years. The presence of a chromosomal abnormality may explain the cause of the miscarriage, hence, will improve genetic counseling and reproductive planning.
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