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先天性心脏缺陷的产前诊断与治疗规划——可能性与局限性

Prenatal diagnosis and treatment planning of congenital heart defects-possibilities and limits.

作者信息

Nelle Mathias, Raio Luigi, Pavlovic Mladen, Carrel Thierry, Surbek Daniel, Meyer-Wittkopf Matthias

机构信息

Division of Neonatology, University Hospital Berne, Berne, Switzerland.

出版信息

World J Pediatr. 2009 Feb;5(1):18-22. doi: 10.1007/s12519-009-0003-8. Epub 2009 Jan 27.

Abstract

BACKGROUND

Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival. The vast majority of these forms of congenital heart defects relate to abnormal morphogenesis during early intrauterine development and can be diagnosed accurately by fetal echocardiography. Early knowledge of these conditions not only permits a better understanding of the progression of these malformations but encourages some researchers to explore new minimally invasive therapeutic options with a view to early pre- and postnatal cardiac palliation.

DATA SOURCES

PubMed database was searched with terms of "congenital heart defects", "fetal echocardiography" and "neonatal cardiac surgery".

RESULTS

At present, early prenatal detection has been applied for monitoring pregnancy to avoid intrauterine cardiac decompensation. In principle, the majority of congenital heart defects can be diagnosed by prenatal echocardiography and the detection rate is 85%-95% at tertiary perinatal centers. The majority, particularly of complex congenital lesions, show a steadily progressive course including subsequent secondary phenomena such as arrhythmias or myocardial insufficiency. So prenatal treatment of an abnormal fetus is an area of perinatal medicine that is undergoing a very dynamic development. Early postnatal treatment is established for some time, and prenatal intervention or palliation is at its best experimental stage in individual cases.

CONCLUSION

The upcoming expansion of fetal cardiac intervention to ameliorate critically progressive fetal lesions intensifies the need to address issues about the adequacy of technological assessment and patient selection as well as the morbidity of those who undergo these procedures.

摘要

背景

患有左心发育不全综合征(HLHS)、右心综合征或其他具有单心室生理特征及相关大动脉发育不全的畸形新生儿,在生存方面仍然是一项挑战。这些先天性心脏缺陷的绝大多数与宫内早期发育过程中的形态异常有关,并且可以通过胎儿超声心动图准确诊断。对这些病症的早期了解不仅有助于更好地理解这些畸形的进展情况,还鼓励一些研究人员探索新的微创治疗方案,以期在产前和产后早期进行心脏姑息治疗。

数据来源

使用“先天性心脏缺陷”、“胎儿超声心动图”和“新生儿心脏手术”等术语检索了PubMed数据库。

结果

目前,早期产前检测已应用于监测妊娠,以避免宫内心脏失代偿。原则上,大多数先天性心脏缺陷可通过产前超声心动图诊断,在三级围产期中心的检出率为85%-95%。大多数病例,尤其是复杂的先天性病变,呈现出稳定进展的病程,包括随后的继发现象,如心律失常或心肌功能不全。因此,对异常胎儿的产前治疗是围产医学中一个正在蓬勃发展的领域。早期产后治疗已经确立了一段时间,而产前干预或姑息治疗在个别病例中仍处于最佳实验阶段。

结论

即将扩大胎儿心脏干预以改善严重进展性胎儿病变,这加剧了应对技术评估的充分性、患者选择以及接受这些手术者的发病率等问题的必要性。

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