Cytogenetic Analysis of the Products of Conception After Spontaneous Abortion in the First Trimester

Abstract

In the present study, we retrospectively recruited 340 patients who underwent spontaneous abortions to investigate chromosomal abnormalities of the conception products in the first trimester. We also performed a relevant analysis of clinical factors. Of these patients, 165 had conception products with chromosomal abnormalities, including 135 aneuploidies, 11 triploidies, 10 complex abnormalities, and 9 segmental aneuploidies. The most common abnormal chromosomes were chromosome 16 in the embryo-transfer group and sex chromosomes in the natural-conception group. The most common abnormal chromosomes in all analyzed maternal age groups were sex chromosomes, 16, and 22. The chromosomal abnormality incidence was related to age and number of spontaneous abortions (both <i>p</i> < 0.05), but not to number of pregnancies, deliveries, induced abortions, or methods of conception (all <i>p</i> > 0.05). The rates of abnormality for chromosomes 12, 15, 20, and 22 increased with age, while the rates for chromosomes 6, 7, 13, and X decreased. In all age groups, aneuploidy was by far the most common abnormality; however, the low-incidence distributions of chromosomal abnormalities were entirely different. Overall, chromosomal aneuploidy was the primary cause of pregnancy loss in the first trimester, and low-frequency abnormalities differed across age subgroups. Chromosomal aberrations were found to be related to maternal age and spontaneous abortion, but not all chromosomal abnormalities increased with age.

Cytogenetic Analysis of Sporadic First-Trimester Miscarriage Specimens Using Karyotyping and QF-PCR: A Retrospective Romanian Cohort Study

“…We found an increased abnormality rate (58.7%) compared with most previous studies [ 14 , 19 , 38 , 41 , 42 , 43 , 44 , 45 ]. However, there are reported data in which the abnormality rate was higher [ 2 , 16 , 19 , 31 , 46 ].…”

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

“…The prevalence of aneuploidy and pathogenicity‐associated CNV in aborted fetal tissue was associated with an increased risk of miscarriage in advanced maternal age pregnant women. 21 , 22 , 23 Numerical chromosomal abnormality was the most important reason for embryo termination in early and middle pregnancy, followed by pCNVs. 24 Dai et al .…”

Maternal cell contamination in embryonic chromosome analysis of missed abortions

“…About 25%-50% women experience miscarriage in their lives, and recurrent miscarriage occurs in 1% of couples hoping for a child. 10,15 Establishing the cause of miscarriage by chromosomal analysis of POC helps to choose the best treatment in the subsequent pregnancies. However, chromosome analysis by Gbanding method as well as other methods can contaminate maternal cells in some cases.…”

“…Currently, there are various methods available for chromosomal analysis of products of conception (POC). Chromosome microarray (CMA) and next‐generation sequencing are some major methods for POC analysis, but these methods are expensive and do not have the ability to detect highly repetitive and condensed regions of chromosomes (such as centromere, telomere, and Robertsonian translocation), polyploidy (except for triploidy), deletions/duplications smaller than 1 Mb, translocations, inversions, low proportions of mosaicism, and uniparental disomy 10 . On the other hand, Giemsa banding (G‐banding) method is cheaper but the POC samples must be viable and free from bacterial contamination to obtain successful results in this method.…”