Department of Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin.
Am J Med Genet A. 2014 Mar;164A(3):691-9. doi: 10.1002/ajmg.a.36366. Epub 2014 Jan 23.
We evaluated 2,083 cases within the Wisconsin Stillbirth Service Program (WiSSP) that had autopsy reports or ultrasound data relevant to the heart. Of these, 167/1,782 (9.4%) stillbirths after 20 weeks and 11/301 (3.7%) miscarriages <20 weeks had congenital heart disease (CHD). Cases were classified by type of heart defect and whether it related to cause of death. Among cardiac anomalies that contributed significantly to fetal death, 125/151 (83%) were associated with underlying conditions or syndromes, nearly half of which were chromosomal. The most common forms of CHD in stillborns were severe cyanotic lesions (3%), then ventricular (2.6%) and atrial (1.9%) septal defects. Compared to livebirths, this represents a shift toward more severe cardiac lesions, although all comparable categories, including non-lethal conditions such as atrial septal defect, are more common in stillbirths. Clinical cardiomyopathy was identified as cause of death in 1.2% of stillborns. Cardiomegaly, occurring in 26.7% of all cases and 76.7% of infants born to diabetic mothers, may represent undiagnosed cardiomyopathy and/or may decrease fetal tolerance of hypoxia. In contrast, 78.5% of Turner syndrome infants, all <32 weeks, had small hearts. More attention to cardiac findings can lead to increased understanding of stillbirth causes. Based on our findings, we recommend chromosome studies on all stillbirths and close attention to the heart during second trimester ultrasounds, with chromosome studies offered if CHD is found. Consideration of heart size can result in prenatal identification of infants at risk for stillbirth, particularly large hearts in fetuses of diabetic mothers in the third trimester, which may identify fetal cardiomyopathy before it becomes life-threatening.
我们评估了威斯康星州死胎服务项目(WiSSP)中 2083 例有尸检报告或与心脏相关的超声数据的病例。其中,20 周后 167/1782(9.4%)死胎和<20 周 11/301(3.7%)自然流产有先天性心脏病(CHD)。病例根据心脏缺陷类型和是否与死因相关进行分类。在导致胎儿死亡的心脏异常中,125/151(83%)与潜在疾病或综合征有关,其中近一半是染色体异常。死胎中最常见的 CHD 形式是严重紫绀性病变(3%),其次是心室(2.6%)和心房(1.9%)间隔缺损。与活产儿相比,这代表着更严重的心脏病变,尽管所有可比类别,包括非致死性疾病,如房间隔缺损,在死胎中更为常见。临床心肌病被确定为 1.2%死胎的死因。所有病例中 26.7%和糖尿病母亲所生婴儿中 76.7%发生的心肌增大,可能代表未诊断的心肌病和/或可能降低胎儿对缺氧的耐受能力。相比之下,78.5%特纳综合征婴儿,所有<32 周,心脏较小。更多关注心脏发现可以提高对死产原因的认识。基于我们的发现,我们建议对所有死胎进行染色体研究,并在第二次妊娠中期超声检查时密切关注心脏,如果发现 CHD,则提供染色体研究。考虑心脏大小可以在产前识别有死产风险的婴儿,特别是糖尿病母亲在孕晚期的胎儿心脏较大,这可能在危及生命之前识别胎儿心肌病。