Duchatel F, Muller F, Oury J F, Mennesson B, Boue J, Boue A
Service de Gynécologie Obstétrique, C.H. René-Dubos, Pontoise, France.
Fetal Diagn Ther. 1993 Jan-Feb;8(1):28-36. doi: 10.1159/000263744.
We have investigated the ultrasonographic signs that can help in the prenatal diagnosis of cystic fibrosis in 197 risk fetuses and compared them with 353 control fetuses. In 60 fetuses with a 1:4 risk for the disease, the gallbladder was also examined. All ultrasonograms were performed just before amniocentesis at 17-19 weeks of gestation. A previously described intra-abdominal hyperechogenic mass was found in 73% of the 48 affected fetuses, but 32 of the 149 unaffected fetuses also had this feature, giving a specificity of 77% and a sensitivity of 78%. When we investigated the gallbladder, we found 9 of the 12 affected fetuses to be without evidence of a gallbladder during the sonographic examination (none of the healthy or control fetuses had such a feature), giving a positive predictive value of 100%, a specificity of 100% and a sensitivity of 75%. The combined presence of an abnormal gallbladder and a hyperechogenic intra-abdominal mass yields the same positive predictive value and specificity, but does not improve the accuracy. Ultrasonography appears to be a good additional diagnostic tool for the prenatal diagnosis of cystic fibrosis, especially when the enzyme activities disagree. Furthermore, these results lead us to think that such a finding during routine ultrasonographic examination at 17-29 weeks could be a means of screening for cystic fibrosis. The absence of the gallbladder during the sonographic examination of fetuses at risk for cystic fibrosis at 17-19 weeks of gestation can help in the prenatal detection of the disease.
我们对197例有囊性纤维化风险的胎儿进行了超声检查，以寻找有助于产前诊断的超声征象，并与353例对照胎儿进行了比较。对60例患病风险为1:4的胎儿，还检查了胆囊。所有超声检查均在妊娠17 - 19周羊膜穿刺术前进行。在48例患病胎儿中，73%发现有先前描述的腹内高回声团块，但149例未患病胎儿中有32例也有此特征，特异性为77%，敏感性为78%。当我们检查胆囊时，在12例患病胎儿中，9例在超声检查时未发现胆囊迹象（健康或对照胎儿均无此特征），阳性预测值为100%，特异性为100%，敏感性为75%。胆囊异常和腹内高回声团块同时存在时，阳性预测值和特异性相同，但并未提高诊断准确性。超声检查似乎是囊性纤维化产前诊断的一种很好的辅助诊断工具，尤其是当酶活性结果不一致时。此外，这些结果使我们认为，在17 - 29周常规超声检查中发现此类情况可能是筛查囊性纤维化的一种方法。在妊娠17 - 19周对有囊性纤维化风险的胎儿进行超声检查时未发现胆囊，有助于该病的产前检测。
