GENETIC DIAGNOSIS BY CHORIONIC VILLUS SAMPLING BEFORE 8 GESTATIONAL WEEKS - EFFICIENCY, RELIABILITY, AND RISKS ON 317 COMPLETED PREGNANCIES
GENETIC DIAGNOSIS BY CHORIONIC VILLUS SAMPLING BEFORE 8 GESTATIONAL WEEKS - EFFICIENCY, RELIABILITY, AND RISKS ON 317 COMPLETED PREGNANCIES
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DOI：
10.1002/pd.1970121004
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发表时间：
1992-10-01
影响因子：
3
通讯作者：
PRIMIGNANI, P
中科院分区：
文献类型：
--
作者：
BRAMBATI, B;SIMONI, G;PRIMIGNANI, P
对 328 例妊娠 6-7 周的高危妊娠尝试进行经腹绒毛膜绒毛取样 (TA-CVS)。 97.7%的情况下抽样是可行的； 94.4% 的病例在第一次进针时获得了超过 10 毫克的绒毛膜组织样本，第二次尝试后该比例为 100%。胎儿核型分析的成功率为 99.4%，而酶分析和 DNA 分析中没有诊断失败的报告。 CVS 后前 4 周的胎儿丢失率明显高于后来的 CVS 系列（7.2% vs. 2.5%），但在无法存活的非整倍体病例中，2 周内观察到 50% 的丢失。在打算继续妊娠的情况下，发现严重肢体畸形的发生率很高（1.6%），这证实了早期 CVS 的病因学作用。胎盘界限的可视化不清晰和针路控制不良被认为是绒毛膜板血管破坏，从而导致缺氧胚胎组织损伤的主要原因。更好的病例选择，加上高分辨率阴道超声可视化以及需要最少量组织的分析技术，应该可以避免早期 CVS 的任何致畸作用。
Transabdominal chorionic villus sampling (TA-CVS) was attempted in 328 high-risk pregnancies at 6-7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent of cases at the first needle insertion and in 100 per cent after a second attempt. Fetal karyotyping succeeded in 99.4 per cent of cases, while no diagnostic failures were reported in enzymatic and DNA analyses. Fetal loss rate in the first 4 weeks after CVS was significantly higher than in the later CVS series (7.2 vs. 2.5 per cent), but 50 per cent of losses were observed within 2 weeks in cases of inviable aneuploidies. A high incidence of severe limb abnormalities (1.6 per cent) was detected in pregnancies intended to continue, confirming the aetiological role of early CVS. Unclear visualization of the placental limits and poor control of the needle path are thought to be the main reasons for the vascular disruption of the chorionic plate, and thereby hypoxic embryo tissue damage. A better selection of cases, together with high-resolution vaginal ultrasound visualization, and analytical techniques requiring a minimal amount of tissue should avoid any teratogenic effect of early CVS.