Chromosome anomalies in 136 couples with a history of recurrent abortions

Abstract

Cytogenetic studies were performed on 136 couples with a history of two or more abortions referred to us after gynaecological causes of the abortions had been excluded. Fifteen (11%) of the couples were found to have a chromosome anomaly, and when the couples were subdivided according to number of abortions, surprisingly 6 (10%) of the 59 couples with a history of only two abortions had a chromosome anomaly. An increased frequency of mosaicism for X-chromosome aneuploidy (2.2%) in the women from the 136 couples was also found. A review of the literature shows that translocations of some chromosomes (e.g. nos. 1, 7 or 22) preferentially lead to fetal wastage, while those involving, for example, chromosome nos. 5, 9, 14 or 21 are more likely to result in the birth of a handicapped child. Couples with a history of two abortions should be investigated cytogenetically. Other causes of miscarriages must, however, be excluded first.

Reproductive risk of paracentric inversion carriers: Report of two unrelated cases with paracentric inversion of the long ARM of chromosome 3

“…abortions (Turleau et al, 1979;Antich et al, 1980;Ward et al, 1980;Simpson et al, 1981;Husslein et al, 1982;Michels et al, 1982;Osztovics et al, 1982;Diedrich et al, 1983;FitzSimmons et al, 1983;Fryns et al, 1984) is 4 : 14, a figure similar to the ratio of 10 : 26 ascertained in the prenatal diagnosis (Van Dyke et al, 1983;Hook et al, 1984). These arguments lead us to suppose that paracentric inversions are associated with spontaneous abortions at least in some inversion carriers.…”

“…Second, if paracentric inversions are related causally to spontaneous abortions as pericentric inversions, the ratio of paracentric inversions to pericentric inversions in repeated aborters would be similar to that in the general population. The ratio from the recently reported systematic surveys of couples with recurrent spontaneous (Yu et al, 1976;Riecardi and Holmquist, 1979;Turleau et al, 1979;Ridler and Sutton, 1981;Van Dyke et al, 1983;Diedrich et al, 1983;Hook et al, 1984), and chromosomes involved are Nos. Multiple spontaneous abortion (two cases), 16 (one case), and X (one case).…”

Structural Chromosomal Abnormalities in Couples with Recurrent Pregnancy Loss

“…[6][7][8][9][10][11][12][13][14][15][16] The fre qu ency of chro mo so mal abnor ma li ti es in our se ri es was 4.23% (19 of 449 co up les) which was in con cor dan ce with li te ra ture. Au to so mal re cip ro cal trans lo ca ti ons ha ve be en pro po sed as the most com mon chro mo so mal changes in co up les who ha ve RPL.…”

“…The fre qu ency of pre sen ce of at le ast one part ner, who is a car ri er of a struc tu ral chro mo so me re ar ran ge ment, va ri es from 3% to 11% among co up les with a his tory of RPL. [4][5][6][7][8][9][10][11][12][13][14][15][16] The ma jo rity of chro mo so me re ar ran gements are ba lan ced re cip ro cal and Ro bert so ni an trans lo ca ti ons. It is known that such ab nor ma li ties ca u se no phe noty pic ef fect on the car ri er but lead to in cre a sed risk to pro du ce un ba lan ced ga me tes.…”

“…The re fo re, they ha ve not only high risk to gi ve ab nor mal offs pring with un ba lan ced kar yoty pes, but al so ha ve in cre a sed pre va len ce of miscar ri a ges. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] He re, we pre sent a ret ros pec ti ve study inc luding cyto ge ne tic da ta of 449 co up les (898 pa ti ents) with re cur rent mis car ri a ges.…”