Callen D F, Korban G, Dawson G, Gugasyan L, Krumins E J, Eichenbaum S, Petrass J, Purvis-Smith S, Smith A, Den Dulk G
Cytogenetics Unit, Adelaide Children's Hospital, South Australia.
Prenat Diagn. 1988 Jul;8(6):453-60. doi: 10.1002/pd.1970080610.
From a total of 1312 diagnostic chorionic villus samplings (CVS) there were 22 which showed discordance between the karyotype of the chorionic villi and that of the fetus. This frequency was some 20-fold higher than that reported at amniocentesis. In the majority of discordant cases, the fetal karyotype was normal while the placental karyotype was mosaic. In four cases, the placental karyotype was non-mosaic (a trisomy 16, a monosomy X, and two tetraploids) while the fetal karyotype was normal. In one case, the placenta was trisomy 18 while the fetus was mosaic. There were two 'false-negative' results where short-term methods showed only normal cells while both long-term cultures of chorionic villi and fetal cells were mosaic, in one 46,XY/47,XXY and in the other 46,XY/47,XY,+21.
在总共1312例诊断性绒毛取样（CVS）中，有22例显示绒毛的核型与胎儿的核型不一致。这一频率比羊膜穿刺术报告的频率高约20倍。在大多数不一致的病例中，胎儿核型正常，而胎盘核型为嵌合体。在4例中，胎盘核型为非嵌合体（1例16三体、1例X单体和2例四倍体），而胎儿核型正常。在1例中，胎盘为18三体，而胎儿为嵌合体。有2例“假阴性”结果，短期方法仅显示正常细胞，而绒毛和胎儿细胞的长期培养均为嵌合体，1例为46,XY/47,XXY，另1例为46,XY/47,XY,+21。
