Yıldırım Gokhan, Gungorduk Kemal, Yazıcıoğlu Fehmi, Gul Ahmet, Cakar Fatma, Celikkol Ozgü, Ceylan Yavuz
Maternal and Fetal Unit, Department of Obstetrics and Gynecology, Istanbul Bakirkoy Women and Children Hospital, Istanbul, Turkey.
Obstet Gynecol Int. 2009;2009:958496. doi: 10.1155/2009/958496. Epub 2009 Jun 4.
Objective. The purpose of this study was to establish the outlook for fetuses diagnosed with complete atrioventricular septal defect (cAVSD) prenatally and its relation to additional cardiac, extracardiac, and chromosomal abnormalities. Methods. We retrospectively reviewed fetal echocardiograms diagnosed with cAVSD from January 2002 to December 2007, comparing fetuses with and without aneuploidy. Results. Complete antrioventricular septal defect was confirmed in 62 fetuses. Mean maternal age was 28.79 +/- 4.78 years (range 20-38). Mean gestational age was 23.69 +/- 5.48 weeks (range 12-38). Fetal karyotype was known in all fetuses. An abnormal karyotype was found in 21 fetuses. Complete AVSD occurred without any other intracardiac abnormality in 28 fetuses. Extracardiac anomalies were present in 38 fetuses. As for pregnancy outcomes, there were 36 (58%) terminations of pregnancy and 4 (6.4%) intrauterine fetal deaths. In these four fetuses, complex cAVSD was associated with atrioventricular block (one case), heterotaxy (one case), and fetal hydrops (two cases). Of the 22 live births, 5 were neonatal deaths without surgery while 17 babies underwent surgery and 13 have survived to date. The mean survival age was 53 +/- 4 months (range 22-64 m). Conclusion. AVSD is associated with chromosomal, other cardiac, and extracardiac abnormalities. The detection of these abnormalities is important in order to give the best indication of the likely outcome when counselling parents.
目的。本研究的目的是确定产前诊断为完全性房室间隔缺损(cAVSD)的胎儿的预后及其与其他心脏、心外和染色体异常的关系。方法。我们回顾性分析了2002年1月至2007年12月诊断为cAVSD的胎儿超声心动图,比较有无非整倍体的胎儿。结果。62例胎儿确诊为完全性房室间隔缺损。孕妇平均年龄为28.79±4.78岁(范围20 - 38岁)。平均孕周为23.69±5.48周(范围12 - 38周)。所有胎儿的胎儿核型均已知。21例胎儿发现核型异常。28例胎儿发生完全性房室间隔缺损且无任何其他心脏内异常。38例胎儿存在心外异常。至于妊娠结局,有36例(58%)终止妊娠,4例(6.4%)宫内胎儿死亡。在这4例胎儿中,复杂的cAVSD与房室传导阻滞(1例)、内脏异位(1例)和胎儿水肿(2例)有关。在22例活产儿中,5例未经手术即新生儿死亡,17例婴儿接受了手术,13例至今存活。平均生存年龄为53±4个月(范围22 - 64个月)。结论。房室间隔缺损与染色体、其他心脏和心外异常有关。在为父母提供咨询时,检测这些异常对于给出可能结局的最佳指示很重要。