Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues

Abstract

An aneuploid karyotype with an extra submetacentric C‐group chromosome was observed in all metaphase cells in 5 of 24 primary amniotic fluid cell clones and in admixture with normal cells in two additional clones. Trisomy 8 was demonstrated by R‐banding. The parents elected to terminate the pregnancy. Successful cultures were initiated from nine fetal tissues and aneuploid cells were observed in cultures derived from two separate sites in the skin.

Problems of detecting mosaicism in skin. A case of trisomy 8 mosaicism illustrating the advantages of in situ tissue culture

“…Since it is quite possible for two amniotic fluid cells which are chromosomally distinct to attach next to each other and develop into intermingled clones, we suggest that where two or more mixed colonies have the same karyotypes this should be classed as true mosaicism. Swisshelm et al (1981) also found mixed colonies in a mosaic trisomy 8 diagnosed prenatally which was subsequently confirmed in skin cultures from the abortus.…”

“…Swisshelm et al (1981) also found mixed colonies in a mosaic trisomy 8 diagnosed prenatally which was subsequently confirmed in skin cultures from the abortus.…”

Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review

“…Similar findings have previously been published. 10,[24][25][26][27]37,38,46,47 In the published literature (both the cases presented in Table 1 and in Tables S1 and S2) [68][69][70][71][72][73][74][75][76][77][78][79][80] , 80 cases included reports of the phenotypic outcome. However, many of the cases were not followed up postnatally in terms of growth and neurologic development.…”

“…In the published literature (both the cases presented in Table 1 and in Tables S1 and S2) 68‐80 , 80 cases included reports of the phenotypic outcome. However, many of the cases were not followed up postnatally in terms of growth and neurologic development.…”