Hafner E, Sterniste W, Scholler J, Schuchter K, Philipp K
Ludwig Boltzmann Institute for Clinical Obstetrics and Gynecology, Department of Obstetrics and Gynecology, Donauspital am SMZ-Ost, Vienna, Austria.
Prenat Diagn. 1997 Jan;17(1):51-8.
In a prospective study, 5407 pregnant women were screened by ultrasound to detect malformations of the fetal face. Of a total of 11 facial anomalies, eight were detected by prenatal ultrasound (72 per cent). Three pregnancies were terminated because of associated developmental abnormalities or aneuploidy. In all of them, the facial malformations were correctly diagnosed. When associated with other developmental abnormalities, facial malformations were picked up at a rate of 100 per cent. Isolated facial malformations, by contrast, were detected in no more than 50 per cent of cases. Eight cases with suspected facial dysmorphism ended with the delivery of normal babies (specificity 99.8 per cent). None of them prompted karyotyping or any other invasive testing. Only two correctly detected facial malformations (bilateral cleft lips/palate) had a minor influence on obstetrical management. There would not have been disadvantages for the newborns in any of the cases if the malformations had been missed.
在一项前瞻性研究中，对5407名孕妇进行了超声筛查，以检测胎儿面部畸形。在总共11例面部异常中，产前超声检测出8例（72%）。3例妊娠因相关发育异常或非整倍体而终止。在所有这些病例中，面部畸形均被正确诊断。当与其他发育异常相关时，面部畸形的检出率为100%。相比之下，孤立性面部畸形的检出率不超过50%。8例疑似面部畸形的病例最终分娩出正常婴儿（特异性为99.8%）。这些病例均未进行染色体核型分析或任何其他侵入性检查。仅2例正确检测出的面部畸形（双侧唇腭裂）对产科处理有轻微影响。如果漏诊这些畸形，对任何一例新生儿都不会有不利影响。
