Weinblatt M, Petrikovsky B, Bialer M, Kochen J, Harper R
Cornell University Medical College, Division of Pediatric Hematology, Manhasset, NY.
Prenat Diagn. 1994 Sep;14(9):892-6. doi: 10.1002/pd.1970140922.
A fetus with absent radii in both forearms was discovered on routine ultrasound examination performed at 18 weeks of pregnancy. No other significant abnormalities were found, and no signs of haemorrhage were detected. Serial ultrasound examinations revealed no evidence of fetal internal bleeding. At 37 weeks of pregnancy, a CBC obtained by cordocentesis under ultrasound guidance confirmed the diagnosis of thrombocytopenia absent radii (TAR) syndrome. Apheresis platelets were transfused into the umbilical vein to correct the thrombocytopenia and was followed by an uncomplicated delivery. No bleeding was encountered during the remainder of the baby's neonatal course. We conclude that TAR syndrome can be readily identified prenatally on sonogram, and if severe thrombocytopenia is confirmed by cordocentesis, platelets should be transfused to diminish the risk of serious internal bleeding during and immediately after delivery.
在妊娠18周进行的常规超声检查中发现一名胎儿双侧前臂桡骨缺如。未发现其他明显异常，也未检测到出血迹象。系列超声检查未发现胎儿内出血的证据。妊娠37周时，在超声引导下经脐静脉穿刺获取的全血细胞计数证实了无桡骨血小板减少症（TAR）综合征的诊断。将单采血小板输注到脐静脉以纠正血小板减少症，随后分娩过程顺利。在婴儿新生儿期的其余时间未发生出血情况。我们得出结论，TAR综合征可在产前超声检查中轻易识别，如果经脐静脉穿刺证实存在严重血小板减少症，应输注血小板以降低分娩期间及分娩后立即发生严重内出血的风险。
