CHROMOSOMAL MOSAICISM IN AMNIOTIC-FLUID CELL-CULTURES

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  • 1 January 1979
    • journal article
    • research article
    • Vol. 31  (2) , 149-155
Abstract
Cases (32) of mosaicism in amniotic fluid cell cultures prepared from 1100 samples were identified over the past 6 yr using in situ processing methods. Two of these (45,X/46,XX and 46,XX/47,XX, + 21) were called true mosaics because multiple colonies demonstrated the same abnormal chromosome complement, and on subsequent evaluation of the newborn blood or fetal tissues, mosaicism was confirmed. Of the remaining cases, 29 were designated as pseudomosaics because only single or partial colonies exhibited an aberrant chromosome complement, 12 having a trisomy 2 line. In the final case, a double trisomy was demonstrated in only 1 of 8 colonies in the 1st culture, but in the culture from a repeat sample an additional 2 colonies showed the same double trisomy. Since no abnormal cells were observed in infant blood, mosaicism may have only been present in the extraembryonic tissues. The use of these cloning methods should diminish the danger of misdiagnosis in genetic amniocentesis.

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