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Cytogenetic Analysis of Chorionic Villi of 240 Spontaneous Abortions

Journal of the Korean Pediatric Society 1995;38(12):1610-1619.
Published online December 15, 1995.
Cytogenetic Analysis of Chorionic Villi of 240 Spontaneous Abortions
S. J. Kim1, S. H. Lee2, K. S. Cha2, S. H. Park3
1Department of Pediatrics, CHA General Hospital, Seoul, Korea
2Department of OB&GY, CHA General Hospital, Seoul, Korea
3Center of Genetics, CHA General Hospital, Seoul, Korea
자연 유산아 240례에서 융모막 융모 세포의 핵형 분석
김서정1, 이숙환2, 차경섭2, 박상희3
1차병원 소아과
2차병원 산부인과
3차병원 유전학교실
Abstract
Purpose
: Chromosomal abnormality is one of the major causes of spontaneous abortion, especially in abortion of first trismester. To detect the incidence and kinds of chromosomal abnormalities, we analyzed karyotypes of 240 cases of spontaneous abortus.
Methods
: We analyzed karyotypes of 240 cultured chorionic villi of products of conceptus from pregnant women with spontaneous abortions visiting CHA general hospital from January of 1991 to June of 1994.
Results
: 1) Karyotypes were determined in 215 cases(89.6%), among 240 spontaneous abortions, one hundred and twenty nine cases(57.3%) showed normal karyotypes, 86 cases(42.7%) showed abnormal karyotype, among 202 karyotyped first trimester abortus, 119 cases(58.9%) showed normal karyotypes and 83 cases(41.l%) were abnormal karyotypes. 2) Autosomal trisomy was most frequent abnormal karyotype with frequency of 60.5%, followed by triploidy, monosomy X, tetraploidy, with frequency of 11.6%, 8.1%, 5.8% respectively. 3) Among autosomal trisomies, trisomy 16 was leading abnormal karyotype found in 21 cases(24.4%), followed by trisomy 2, 13, 21, 22. 4) Among 83 abnormally karyptyped first trimester abortus, autosomal trisomies were 50 cases(22.2%), triploidies were 10 cases(4.5%), monosomy X, 7 cases, structural anoamlies, 7 cases. 5) Eight cases showed structural abnormalities, in all of these cases, we could find out parental carrier such as balanced translocation in unbalanced translocation abortuses, and same type abnormalities in inversion and isochromosome abortuses. 6) Maternal group with age older than 35 year showed high incidence of trisomy. Conclusion : Karyotyping of abortuses with culture of chronic villi from product of conceptus of spontaneous abortion is easily performed and the success rate is satisfactory. We could get lots of information about the causes of spontaeous abortion and counselling for following pregnancy from karyotyping. So we recommend karypotyping of all spontaneous abortus.
Key Words: Spontaneous abortion, Chrionic villi, Karyotype, Chromosomal abnormality


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