Miny P, Hammer P, Schloo R, Horst J, Tercanli S, Gerlach B, Holzgreve W
Institut für Humangenetik der Westfälischen Wilhelms-Universität zu Münster.
Geburtshilfe Frauenheilkd. 1991 Sep;51(9):694-703. doi: 10.1055/s-2007-1023818.
Chorionic villus sampling and placental biopsies became established diagnostic alternatives to amniocentesis worldwide during the 80's. Safety and accuracy are the most important criteria for the evaluation of these newer techniques as compared to amniocentesis. We report on our experience with more than 3400 chromosome analyses between 1985 and 1990 from first to third trimester of pregnancy in a single centre. Most obvious is the higher frequency of mosaicism, which is often, but not always confined to the placenta. Mosaicism accounts for the overwhelming majority of all discrepant (so-called false negative or false positive) cytogenetic findings. The most important prerequisites for diagnostic accuracy of chromosome analyses are meticulous separation of villi immediately after the sampling procedure as well as simultaneous use of direct preparation and cell culture. If mosaicism is not taken as sound evidence for foetal aneuploidy, the accuracy of cytogenetic diagnoses after chorionic villus sampling and placental biopsies is in the same range as the one after amniocentesis.
在20世纪80年代，绒毛取样和胎盘活检在全球范围内成为羊膜穿刺术的既定诊断替代方法。与羊膜穿刺术相比，安全性和准确性是评估这些新技术的最重要标准。我们报告了1985年至1990年在单一中心对超过3400例妊娠早期至晚期进行染色体分析的经验。最明显的是嵌合体频率较高，嵌合体通常但并非总是局限于胎盘。嵌合体占所有不一致（所谓假阴性或假阳性）细胞遗传学结果的绝大多数。染色体分析诊断准确性的最重要前提是在取样后立即仔细分离绒毛，并同时使用直接制片和细胞培养。如果不将嵌合体视为胎儿非整倍体的可靠证据，那么绒毛取样和胎盘活检后的细胞遗传学诊断准确性与羊膜穿刺术后的准确性处于同一范围。
