Center for Human Genetics, Marshfield Clinic Research Institute, Marshfield, Wisconsin USA
Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
Clin Med Res. 2020 Aug;18(2-3):58-67. doi: 10.3121/cmr.2019.1478. Epub 2020 Jan 20.
Cardiovascular anomalies are more common in monochorionic twins, especially with twin-twin transfusion, compared to other twin types and to singletons. Because previous studies are based on fetal and neonatal echocardiography, more information is needed to study prevalence of cardiac anomalies in twin miscarriages, stillbirths, and children after the immediate neonatal period.
With specific attention to cardiac anomalies, we reviewed the medical records of 335 selected liveborn twin pairs from the Marshfield Clinic Twin Cohort (enriched for twin-twin transfusion) and all twins (175 pairs) identified in the Wisconsin Stillbirth Service Program cohort of late miscarriages and stillbirths.
Structural cardiac defects occurred in 12% of liveborn monochorionic twin infants and 7.5% of stillborn infants with twin-twin transfusion compared to only 2% of liveborn dizygotic twins and no stillborn dizygotic infants. The most common cardiac lesion in liveborn twins was ventricular septal defect, which was usually isolated and discordant, preferentially affecting the smaller twin in monochorionic pairs. Among stillborn and miscarried monochorionic twins, the most common cardiac lesion was acardia.
Monochorionic twins, particularly those with TTT, are at increased risk for a spectrum of structural cardiac malformations which we suggest may be related to asymmetry of the inner cell mass resulting in a smaller poorly perfused twin. In severe cases, limited cardiac and circulatory development in the affected twin leads to acardia. In less severe cases, the smaller infant has deficient septal growth that sometimes results in ventricular septal defect.
与其他类型的双胞胎和单胎相比,联体双胎,尤其是存在双胎输血综合征的联体双胎,心血管畸形更为常见。由于之前的研究基于胎儿和新生儿超声心动图,因此需要更多信息来研究双胞胎流产、死胎和新生儿期后的儿童中心血管畸形的患病率。
我们特别关注心脏异常,对 Marshfield 诊所双胞胎队列(以双胎输血综合征为丰富源)中选择的 335 对活产双胞胎和威斯康星州死产服务计划队列中所有(175 对)双胞胎的医疗记录进行了回顾,该队列包括晚期流产和死胎。
结构型心脏缺陷发生在 12%的活产单绒毛膜双胎婴儿和 7.5%存在双胎输血综合征的死产婴儿中,而双卵双胎活产儿的发生率为 2%,且没有双卵双胎死产儿。活产双胞胎中最常见的心脏病变是室间隔缺损,通常为孤立性和不一致性,优先影响单绒毛膜双胎中的较小胎儿。在死产和流产的单绒毛膜双胎中,最常见的心脏病变是无心畸形。
单绒毛膜双胎,特别是存在 TTT 的双胎,存在一系列结构性心脏畸形的风险增加,我们推测这可能与内细胞团的不对称有关,导致较小的灌注不良胎儿。在严重情况下,受影响胎儿的心脏和循环发育受限导致无心畸形。在不太严重的情况下,较小的婴儿会出现间隔生长不足,导致室间隔缺损。