Department of Forensic and Legal Medicine, Faculty of Medicine, Diponegoro University, Central Java, Indonesia.
Singapore Med J. 2012 Oct;53(10):643-7.
Congenital heart defect (CHD) is a significant cause of neonatal and infant mortality. We aimed to evaluate the incidence and pregnancy outcome of foetuses diagnosed with chromosomally normal CHD in KK Women's and Children's Hospital (KKH), Singapore, in 2008-2009.
We reviewed the medical records of pregnant women who underwent first trimester screening and were diagnosed with foetal CHD at KKH. Additional information was obtained from the Birth Defect Registry for the period 2008-2009. Foetuses with abnormal karyotype or minor lesions not expected to be detected by ultrasonography were excluded.
38 out of 9,834 euploid foetuses were diagnosed with CHD. Major defects were found in 26 (68%) foetuses, while 12 (32%) had minor CHDs. Tetralogy of Fallot, atrioventricular septal defect, hypoplastic left heart syndrome, transposition of the great arteries and ventricular septal defect constituted the five most common major CHDs observed. In 14 (54%) foetuses with prenatally diagnosed major CHD, the outcome was termination of pregnancy, while 12 (46%) pregnancies continued to birth. Among the live-born babies with major CHD, eight (67%) underwent surgery.
The incidence of non-chromosomal major CHD in Singapore was about 2.6 per 1,000 foetuses. A detection rate of 88.5% was achieved for major CHD during the study period. Advances in CHD management have thrown up new challenges for clinicians in the area of diagnosis, treatment and ethics. Therefore, it may be beneficial to constitute a regulatory entity as a fundamental guide to improve the future management of foetuses diagnosed with CHD.
先天性心脏病（CHD）是新生儿和婴儿死亡的重要原因。我们旨在评估 2008-2009 年在新加坡 KK 妇女儿童医院（KKH）诊断为染色体正常 CHD 的胎儿的发病率和妊娠结局。
我们回顾了在 KKH 接受早期筛查并被诊断为胎儿 CHD 的孕妇的病历。在此期间，还从出生缺陷登记处获得了 2008-2009 年的额外信息。排除了染色体异常或预计无法通过超声检测到的较小病变的胎儿。
在 9834 例正常二倍体胎儿中，有 38 例被诊断为 CHD。26 例（68%）胎儿存在主要缺陷，12 例（32%）胎儿存在轻微 CHD。法洛四联症、房室间隔缺损、左心发育不良综合征、大动脉转位和室间隔缺损构成了观察到的五种最常见的主要 CHD。在 14 例（54%）产前诊断为主要 CHD 的胎儿中，有 12 例（46%）妊娠继续至分娩。在患有主要 CHD 的活产婴儿中，有 8 例（67%）接受了手术。
新加坡非染色体主要 CHD 的发病率约为每 1000 例胎儿 2.6 例。在研究期间，主要 CHD 的检出率达到 88.5%。CHD 管理的进步给该领域的临床医生在诊断、治疗和伦理学方面带来了新的挑战。因此，成立一个监管实体作为改善未来 CHD 胎儿管理的基本指导可能是有益的。
