Loft A, Tabor A
Prenat Diagn. 1984 Jan-Feb;4(1):51-9. doi: 10.1002/pd.1970040108.
From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogenetic errors in this study was very low.
从1973年3月1日至1980年9月30日，有5580名妇女在此处或其他地方接受了羊膜穿刺术；胎儿染色体分析在本实验室进行。在5591次染色体分析中，我们发现了112个异常核型（2%）。40名妇女（0.7%）未获得细胞遗传学诊断结果。随访成功率为99.5%。详细报告了9例病例：3例羊水核型与产后外周血核型存在差异，其中2例结果为46,XX（男性），而第3例产前诊断为21三体，但出生时核型为46,XX。6例羊水核型与出生/流产时的表型结果存在差异。1例为产前未检测到的45,X/46,XY嵌合体；1例为不明原因的45,X男性胎儿；2例产前诊断为21三体，但流产时确定为正常核型，2例可能检测的是母体细胞。本研究中细胞遗传学错误的发生率非常低。
