Gatz G, Rauskolb R, Werner L, Gellert G, Eiben B, Bartels I
Institut für Humangenetik, Göttingen, F.R.G.
Prenat Diagn. 1990 Jun;10(6):365-75. doi: 10.1002/pd.1970100604.
The efficacy and risks of simultaneous transabdominal chorionic villus biopsy (placentacentesis) and amniocentesis in the second and third trimesters were evaluated in 250 singleton pregnancies. The major indications were advanced maternal age (36.0 per cent), abnormal ultrasound findings (23.2 per cent), and low maternal AFP value (17.6 per cent). Nine abnormal karyotypes were found in placental tissue (3.6 per cent). The karyotypes of placental and amniotic cells were different in three cases, including two cases of false-positive mosaicism (0.8 per cent) and one case of a false-negative result (0.4 per cent) obtained by placental karyotyping. The problem of discrepant karyotypes in embryonic and extra-embryonic tissue does not seem to be restricted to the first trimester. The post-procedure fetal loss rate was estimated as approximately 1.8 per cent. We conclude that the procedure presented here combines the advantages of rapid karyotyping (placentacentesis) and high diagnostic reliability (amniocentesis). It does not seem to be necessary to restrict its use to late presentations and suspicious ultrasound findings.
在250例单胎妊娠中评估了孕中期和孕晚期同时经腹绒毛取样（胎盘穿刺）和羊膜穿刺术的疗效及风险。主要指征为孕妇高龄（36.0%）、超声检查异常（23.2%）及孕妇甲胎蛋白值低（17.6%）。在胎盘组织中发现9例异常核型（3.6%）。3例胎盘细胞和羊水细胞的核型不同，包括2例假阳性嵌合体（0.8%）及1例假阴性结果（0.4%），后者通过胎盘核型分析得出。胚胎组织和胚外组织核型不一致的问题似乎并不局限于孕早期。术后胎儿丢失率估计约为1.8%。我们得出结论，本文介绍的操作结合了快速核型分析（胎盘穿刺）和高诊断可靠性（羊膜穿刺术）的优点。似乎没有必要将其使用局限于晚期病例及可疑超声检查结果。
