Pilu G, Romero R, Reece E A, Jeanty P, Hobbins J C
Am J Obstet Gynecol. 1986 Mar;154(3):630-2. doi: 10.1016/0002-9378(86)90618-6.
The Robin anomalad was diagnosed by the sonographic detection of polyhydramnios and fetal micrognathia in a patient at risk because of a previously affected child. Ultrasound in the second trimester failed to demonstrate any facial anomaly, but mandibular hypoplasia was clearly documented in the third trimester. The antenatal diagnosis allowed immediate neonatal assistance to prevent glossoptosis-induced respiratory failure.
由于之前有一个患病孩子,该患者被判定为罗宾序列征高危人群,通过超声检查发现羊水过多和胎儿小颌畸形而确诊。孕中期超声检查未发现任何面部异常,但孕晚期明确记录到下颌骨发育不全。产前诊断使得能够立即为新生儿提供援助,以预防舌后坠引起的呼吸衰竭。