CHROMOSOME-STUDIES OF 500 COUPLES WITH 2 OR MORE ABORTIONS

  • 1 January 1985
    • journal article
    • research article
    • Vol. 65  (3) , 375-378
Abstract
Chromosome studies of 500 couples with recurrent (2 or more) spontaneous abortions revealed abnormal karyotypes in 50 partners (10%). There was no apparent relation with the number of abortions. The abnormalities were translocations (44%), mosaicisms (48%), and deletions or inversions (8%). In 20 cases the translocations were reciprocal and mainly maternal. Most mosaicisms involved the maternal X-chromosome. Studies of 78 relatives of the index patients identified another 24 carriers of a balanced translocation. Prenatal diagnosis was performed on 13 carriers of a balanced translocation and 16 carriers of a mosaicism because of their risk of an abnormal fetal karyotype causing serious congenital anomalies. These results illustrate the impact on the families. Couples should have chromosome studies after 3 abortions and maternal X-chromosomal mosaicism occurs as frequently as a balanced parental translocation.

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