Sivanandam Shanthi, Glickstein Julie S, Printz Beth F, Allan Lindsey D, Altmann Karen, Solowiejczyk David E, Simpson Lynn, Perez-Delboy Annette, Kleinman Charles S
Division of Pediatric Cardiology, New York-Presbyterian Hospital, Columbia University College of Physicians and Surgeons, New York, New York, USA.
Am J Perinatol. 2006 May;23(4):241-5. doi: 10.1055/s-2006-939535. Epub 2006 Apr 19.
The purpose of this study was to determine whether continuing experience in prenatal diagnosis of conotruncal malformations (CTMs) has resulted in improved diagnostic accuracy and outcome. Previous reports have demonstrated particular difficulty with ascertainment of the spatial relationship of the great arteries in patients with CTM. The prognosis for fetuses with CTM was poor. Medical records of 113 consecutive fetuses in whom a CTM (tetralogy of Fallot [TOF], double-outlet right ventricle [DORV], type B aortic arch interruption, transposition of the great arteries [TGA], and persistent truncus arteriosus [TA]) was diagnosed antenatally between 1994 and 2003 were reviewed. The diagnosis of the 91 fetuses with CTM included TOF (n = 32), TGA (n = 29), DORV (n = 22), and TA (n = 8). The great arterial spatial relationship was diagnosed accurately in 84 of the 91 (92%) live-born infants. In the other seven infants with DORV, the great arterial spatial relationship was identified inaccurately. The overall survival to 30 days was 85 of 91 (93%). Twenty-three of 91 (25%) patients had extracardiac anomalies. Genetic diagnosis (amniocentesis) was obtained in 63 of 94 patients; 11 (17%) had chromosomal abnormalities. Maternal glucose tolerance results were obtained in 65 of the 91 patients and were abnormal in 25 of 65 (38%). Prenatal diagnostic accuracy of conotruncal malformations is excellent; the arterial spatial relationship of DORV remains problematic. The populations of fetuses with CTMs who continue to develop to term have an excellent prognosis.
本研究的目的是确定在圆锥动脉干畸形（CTM）产前诊断方面的持续经验是否提高了诊断准确性和改善了预后。既往报告显示，在确定CTM患者大动脉的空间关系方面存在特别困难。CTM胎儿的预后较差。回顾了1994年至2003年间产前诊断为CTM（法洛四联症[TOF]、右心室双出口[DORV]、B型主动脉弓中断、大动脉转位[TGA]和永存动脉干[TA]）的113例连续胎儿的病历。91例CTM胎儿的诊断包括TOF（n = 32）、TGA（n = 29）、DORV（n = 22）和TA（n = 8）。91例活产婴儿中有84例（92%）大动脉空间关系诊断准确。在其他7例DORV婴儿中，大动脉空间关系识别不准确。91例中有85例（93%）存活至30天。91例患者中有23例（25%）有心脏外异常。94例患者中有63例进行了基因诊断（羊膜穿刺术）；11例（17%）有染色体异常。91例患者中有65例获得了母体糖耐量结果，65例中有25例（38%）异常。圆锥动脉干畸形的产前诊断准确性极佳；DORV的动脉空间关系仍然存在问题。持续发育至足月的CTM胎儿群体预后良好。
