Roberts C J, Evans K T, Hibbard B M, Laurence K M, Roberts E E, Robertson I B
Lancet. 1983 Nov 5;2(8358):1068-9. doi: 10.1016/s0140-6736(83)91049-8.
2509 pregnant women were investigated between April 1, 1977, and March 31, 1980 (study 1), and April 1, 1980, and March 31, 1983 (study 2), to assess the effectiveness of diagnostic ultrasound in the diagnosis of neural tube defect (NTD) in women judged to be at high risk of NTD on the basis of raised serum alpha-fetoprotein or family history, or of other congenital malformation. The detection rate (sensitivity) for anencephaly was 100% in both studies. The detection rate for open spina bifida (OSB) improved from 33% in study 1 to 80% in study 2, specificity rose from 96% to 99%, the false-positive rate dropped from 57% to 9%, and the false-negative rate fell from 1% to 0.3%. Diagnostic ultrasound is likely to be conducted with greater vigilance and subjected to greater scrutiny than routine ultrasound because the patients have already been selected as being at high risk, the operators are more experienced, and their apparatus is likely to be more refined than that used for routine ultrasound. It is unlikely that the effectiveness levels for detection of OSB of 80% observed in this study could be sustained if diagnostic ultrasound were to be offered to all pregnant women. Consideration will need to be given to the question of whether an improved OSB detection rate will be worth the additional cost incurred in providing diagnostic ultrasound for every pregnant woman.
在1977年4月1日至1980年3月31日（研究1）以及1980年4月1日至1983年3月31日（研究2）期间，对2509名孕妇进行了调查，以评估诊断性超声对神经管缺陷（NTD）的诊断效果。这些孕妇是基于血清甲胎蛋白升高、家族病史或其他先天性畸形而被判定为NTD高危人群。在两项研究中，无脑儿的检出率（敏感性）均为100%。开放性脊柱裂（OSB）的检出率从研究1中的33%提高到了研究2中的80%，特异性从96%上升到99%，假阳性率从57%降至9%，假阴性率从1%降至0.3%。与常规超声相比，诊断性超声的操作可能会更谨慎，受到的审查也会更严格，因为这些患者已被选定为高危人群，操作人员经验更丰富，而且其设备可能比用于常规超声的设备更精密。如果对所有孕妇都进行诊断性超声检查，本研究中观察到的80%的OSB检出率可能无法维持。需要考虑提高OSB检出率是否值得为每位孕妇提供诊断性超声检查而产生的额外费用这一问题。
