Golbus M S, Loughman W D, Epstein C J, Halbasch G, Stephens J D, Hall B D
N Engl J Med. 1979 Jan 25;300(4):157-63. doi: 10.1056/NEJM197901253000402.
We analyzed 3000 consecutive amniocenteses for prenatal diagnosis to assess the frequency of abnormalities, safety of the procedure, technical and interpretive difficulties and overall diagnostic accuracy. Chromosomal abnormalities were detected in 2.4 per cent of the 2404 pregnancies tested because of advanced maternal age (greater than or equal to 35 years), in 1.2 per cent of 240 monitored because of prior trisomy 21 and in 9.1 per cent of 55 examined for other cytogenetic indications. Mosaicism was detected in 0.4 per cent, and unexpected translocations in 0.4 per cent. Amniotic fluid was obtained on the first attempt in 99.3 per cent of the last 1000 cases, and cultures established from 99.7 per cent of patients attending our clinic. The fluid was discolored in 1.2 per cent of patients, a quarter of whom had missed abortions. The rate of spontaneous abortion after amniocentesis was 1.5 per cent. There were 14 diagnostic errors, six serious enough to affect the outcome of pregnancy. The karyotyping error rate was 0.07 per cent. We conclude that prenatal diagnosis is safe, highly reliable and extremely accurate.
我们分析了连续3000例用于产前诊断的羊膜腔穿刺术，以评估异常情况的发生率、操作安全性、技术及解读难点以及总体诊断准确性。在因母亲年龄偏大（大于或等于35岁）而接受检测的2404例妊娠中，2.4%检测出染色体异常；在因既往有21三体综合征而接受监测的240例中，1.2%检测出染色体异常；在因其他细胞遗传学指征而接受检查的55例中，9.1%检测出染色体异常。0.4%检测出嵌合体，0.4%检测出意外的易位。在最后1000例病例中，99.3%的首次穿刺成功获取羊水，在到我们诊所就诊的患者中，99.7%成功建立培养。1.2%的患者羊水变色，其中四分之一有稽留流产。羊膜腔穿刺术后自然流产率为1.5%。有14例诊断错误，其中6例严重到影响妊娠结局。核型分析错误率为0.07%。我们得出结论，产前诊断是安全、高度可靠且极其准确的。
