Athwal Sharan, Millard Katherine, Lakhoo Kokila
Department of Paediatric Surgery, John Radcliffe Hospital, Headington, Oxford, OX3 9DU UK.
J Med Case Rep. 2010 Dec 22;4:411. doi: 10.1186/1752-1947-4-411.
Twin reversed arterial perfusion (TRAP) sequence is a rare complication of multiple pregnancy caused by defects in early embryogenesis. The pump twin supplies the acardiac recipient twin with blood, and although the pump twin is usually structurally normal, congenital anomalies have sometimes been reported. We report a unique case of twin reversed arterial perfusion sequence with a prenatal diagnosis of VACTERL association in the surviving pump twin.
A 24-year-old Caucasian woman presented at 11 weeks' gestation with a monochorionic, monoamniotic twin pregnancy. A reversed arterial flow was noted on a Doppler imaging study coming from the larger, apparently normal twin to the smaller, grossly abnormal twin, and a diagnosis of twin reversed arterial perfusion sequence was made. Cardiac activity was undetectable in the recipient twin by 16 weeks' gestation. Further detailed assessment at 18 weeks' gestation revealed multiple congenital anomalies of the surviving pump twin, in keeping with a diagnosis of VACTERL association. A live infant girl was delivered at 39 weeks by elective cesarean section. She underwent extensive surgery with subsequent normal development at the age of two years.
The co-existence of two rare and complex conditions in this unique case raises interesting questions about the role of early defects in embryogenesis and their subsequent effects on fetal development. This case also highlights the importance of prenatal diagnosis of major congenital anomalies to the plan treatment, reduce morbidity and aid the survival of affected children.
双胎反向动脉灌注序列征(TRAP)是早期胚胎发育缺陷导致的多胎妊娠罕见并发症。供血儿为无心受血儿提供血液,尽管供血儿通常结构正常,但有时也有先天性异常的报道。我们报告了一例独特的双胎反向动脉灌注序列征病例,存活的供血儿产前诊断为VACTERL综合征。
一名24岁的白人女性在孕11周时因单绒毛膜、单羊膜囊双胎妊娠就诊。多普勒成像研究显示有反向动脉血流,从较大的、看似正常的胎儿流向较小的、严重异常的胎儿,诊断为双胎反向动脉灌注序列征。孕16周时受血儿未检测到心脏活动。孕18周进一步详细评估发现存活的供血儿有多种先天性异常,符合VACTERL综合征的诊断。孕39周时通过择期剖宫产分娩出一名活女婴。她接受了广泛的手术,两岁时发育正常。
这一独特病例中两种罕见且复杂的情况并存,引发了关于早期胚胎发育缺陷的作用及其对胎儿发育后续影响的有趣问题。该病例还凸显了主要先天性异常的产前诊断对规划治疗、降低发病率及帮助患病儿童存活的重要性。