Cytogenetic Analysis of Spontaneous Miscarriages Using Long-Term Culturing of Chorionic Villi

Abstract

Spontaneous miscarriages are strongly associated with fetal chromosomal abnormalities. We sought to validate the occurrence of chromosomal abnormalities in Japanese patients with early spontaneous miscarriages using a conventional long-term culture method. One hundred and thirty-two patients were studied after excluding 7 cases with culture failure. Chromosomal analysis of 132 cases was performed using a long-term culture method of the villous placental tissue. Patients' age, number of previous spontaneous abortions, fetal data from ultrasonography, and the method of conception (ART or spontaneous pregnancy) were obtained from the electronic medical records. The association between the patient's background and the cytogenetic data was analyzed using a Chi squared test. The average maternal age of the 132 cases of early spontaneous abortion was 34.2 ± 4.7 year (range: 24-43). Chromosomal abnormalities were detected in 89 cases (67.4%), among which 52.8% represented trisomy, 1.1% represented double trisomy, 10.1% represented polyploidy, 7.9% represented monosomy, 12.4% represented structural chromosomal abnormality, and 15.7% represented mosaic chromosome abnormalities. Women older than 35 year had a higher rate of chromosomal abnormalities than younger women (76.6% vs. 58.8%; P = 0.015). Twenty-five of the 132 pregnancies were achieved with ART and were associated with a higher rate of trisomy (64.0% vs. 37.4%; P = 0.008). G-banding identified a rare form of polyploidy 94,XXYYYY. Our results confirmed previous findings that older Japanese women with spontaneous miscarriages have a higher rate of chromosomal abnormalities.

Correlation of Maternal Age and Chromosomal Abnormality in Products of Conception- A Single Centric Study

“…In our study we have found higher abnormality rate (29%) in advanced maternal age group as compare to younger population studied (17%). The present findings consistent with the studies that reported the increased incidence of chromosomal abnormality with increasing maternal age [14][15][16]. Various studies have concluded that the women's with advanced maternal age have a higher incidence of unfavourable reproductive outcomes such as complications during pregnancy, spontaneous pregnancy loss, infertility or congenital anomalies in foetus as compared to the younger women which is consistent with the present study [17][18][19][20][21][22].…”

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

“…Only few stratified analyses on the correlation between the incidence of single autosomal trisomies and maternal age are available, and a direct comparison is difficult due to differently formatted data. However, there are some previous studies where a higher rate of single autosomal trisomy was observed in older women [ 16 , 19 , 46 , 48 , 49 , 50 ].…”

“…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 ]. Our findings compared to the relative frequencies of different types of chromosome abnormalities along with the ones reported in previous studies are shown in Table 5 .…”