Abstract
OBJECTIVE: The aim of this study is to determine the incidence of specific chromosome abnormalities among spontaneous abortions from ART and non-ART (spontaneous ovulatory) cycles. We further evaluated whether it is reasonable to check 9 chromosomes (13,14,15,16,18,21,22,X,and Y) mostly recommended for preimplantation genetic screening (PGS). DESIGN: A retrospective analysis of case series. MATERIALS AND METHODS: 328 consecutive patients(average age: 34.8±5.4, range 19∼45), who resulted in the first-trimester spontaneous miscarriages between 2002 and 2007, were included in this study. 121 pregnancies (Group A; average age: 36.4±4.2) occurred after ART cycles, and the remaining 207 pregnancies(Group B; average age: 33.9±5.8) resulted from non-ART cycles. Chorionic villi obtained by surgical resection were analyzed for karyotyping. Chromosomal abnormalities were classified into 3 categories: aneuploidy, polypoidy, and others(structural abnormality, etc.). The frequency distribution of chromosomal abnormalities, according to chromosome No., were determined. We also calculated the potential sensitivities of the different aneuploidy screening options for PGS. RESULTS: 69%(226/328) of study population had abnormal chromosomal complement [aneuploidies: 88%(198/226), polyploidies: 10%(23/226), others: 2%(5/226)]. The most common aneuploidies were those of chromosome No. 22(n=38), followed by No. 16(n=34), and No.15(n=24), X, 20, 21, 2, etc., in order of frequency. The frequency distribution of abnormal chromosomes indicated statistically no significant difference between Group A and B, with a few exceptions. Group A had a larger proportion of chromosome No. 22 aneuploidy(21/121 vs. 17/207, P<0.05), and a smaller proportion of X aneuploidy (2/121 vs. 15/207, P<0.05) than Group B. There were no chromosome No. 1, 6, 17, and Y aneuploidy in our study population. By analyzing 9 chromosomes for PGS, a larger proportion of cases having numerical chromosomal abnormalities would have been detected [72%(162/226)]. By screening 3 additional chromosomes(No. 2, 8, and 20), the proportion of detected abnormal cases would increase from 72% to 85%(162+29/226). CONCLUSIONS: 1) The frequency distribution of chromosomal abnormalities, classified by chromosome No., in spontaneous abortions shows the same between ART and non-ART cases, with the exception of chromosome No. 22 and X. 2) The value of screening for 9 most recommended chromosomes and also for 3 more additional chromosomes in PGS for clinical practice seems to be justified.
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