The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well-known, and among aneuploidy syndromes, distinctive patterns have been delineated. We update the type and frequency of CHDs in the aneuploidy syndromes involving trisomy 13, 18, 21, and 22, and in several sex chromosome abnormalities (Turner syndrome, trisomy X, Klinefelter syndrome, 47,XYY, and 48,XXYY). We also discuss the impact of noninvasive prenatal screening (mainly, cell-free DNA analysis), critical CHD screening, and the growth of parental advocacy on their surgical management and natural history. We encourage clinicians to view the cardiac diagnosis as a "phenotype" which supplements the external dysmorphology examination. When detected prenatally, severe CHDs may influence decision-making, and postnatally, they are often the major determinants of survival. This review should be useful to geneticists, cardiologists, neonatologists, perinatal specialists, other pediatric specialists, and general pediatricians. As patients survive (and thrive) into adulthood, internists and related adult specialists will also need to be informed about their natural history and management.

中文翻译：

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与非整倍性综合征相关的先天性心脏缺陷：熟悉的协会的新见解。

染色体异常综合征中先天性心脏缺陷（CHD）的频繁发生是众所周知的，在非整倍性综合征中，已描绘出独特的模式。我们更新涉及三体性13、18、21和22的非整倍性综合征以及几种性染色体异常（特纳综合征，X三体性，Klinefelter综合征，47，XYY和48，XXYY）中CHD的类型和频率。我们还讨论了无创产前筛查（主要是无细胞DNA分析），关键性冠心病筛查以及父母代言的增长对其手术管理和自然病程的影响。我们鼓励临床医生将心脏诊断视为补充外部畸形检查的“表型”。如果在产前发现严重的冠心病，可能会影响决策，在产后，它们通常是生存的主要决定因素。该评论对遗传学家，心脏病学家，新生儿学家，围产期专家，其他儿科专家和普通儿科医师应是有用的。随着患者在成年后生存（并and壮成长），还需要向内科医生和相关的成年专科医生了解其自然病史和治疗方法。