Chromosomal Abnormalities among Children Born with Conotruncal Cardiac Defects
Chromosomal Abnormalities among Children Born with Conotruncal Cardiac Defects
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DOI：
10.1002/bdra.20541
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发表时间：
2009-01-01
影响因子：
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通讯作者：
Shaw, Gary M.
中科院分区：
文献类型：
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作者：
Lammer, Edward J.;Chak, Jacqueline S.;Shaw, Gary M.
背景：圆锥动脉干型心脏缺损占非综合征型先天性心脏缺损的25%-30%。本研究描述了圆锥动脉干心脏畸形婴儿和胎儿染色体异常和22 q11微缺失的频率。方法：从974，579名分娩婴儿/胎儿的人群中，确定了622名加州婴儿/胎儿存在胎盘间隔缺损。婴儿的主要心脏缺陷是法洛四联症（n = 296）或大动脉的d-易位（n = 189）进行了筛选22 q11的微缺失。结果：在常规核型的婴儿中，5%有染色体异常，包括4个额外的性染色体。30名婴儿有染色体22 q11微缺失，这为10%的婴儿的主要缺陷是法洛四联症提供了原因。右主动脉弓、胸主动脉分支异常和肺动脉异常在22 q11微缺失引起的法洛四联症婴儿中更常见。结论：我们发现了一个不寻常的数目的婴儿额外的性染色体和圆锥动脉干缺陷。与无22 q11微缺失的法洛四联症婴儿相比，22 q11微缺失的法洛四联症婴儿表现出更多的相关血管异常。尽管这些相关的血管异常提供了哪些法洛四联症婴儿更有可能携带微缺失的线索，但法洛四联症婴儿的总体风险为10%，因此需要常规进行染色体分析和荧光原位杂交（FISH）检测，随着全基因组拷贝数检测的广泛应用，这可能会被取代。出生缺陷研究（A部分）85：30-35，2009年。(C)2008威利利斯公司
BACKGROUND: Conotruncal heart defects compose 25% to 30% of nonsyndromic congenital heart defects. This study describes the frequency of chromosome abnormalities and microdeletion of 22q11 associated among infants and fetuses delivered with conotruncal heart malformations. METHODS: From a population base of 974,579 infants/fetuses delivered, 622 California infants/fetuses were ascertained with a defect of aortopulmonary septation. Infants whose primary cardiac defect was tetralogy of Fallot (n = 296) or d-trans-position of the great arteries (n = 189) were screened for microdeletion of 22q11. RESULTS: Of the infants who had routine karyotypes, 5% had chromosomal abnormalities, including four with extra sex chromosomes. Thirty infants had chromosome 22q11 microdeletions, providing a cause for 10% of infants whose primary defect was tetralogy of Fallot. Right aortic arch, abnormal branching patterns of the major arteries arising from the thoracic aorta, and pulmonary artery abnormalities were observed more frequently among infants with tetralogy of Fallot caused by 22q11 microdeletion. CONCLUSIONS: We found an unusual number of infants with an extra sex chromosome and a conotruncal defect. Infants with tetralogy of Fallot owing to 22q11 microdeletion showed more associated vascular anomalies than infants with tetralogy without a 22q11 microdeletion. Although these associated vascular anomalies provide clues as to which infants with tetralogy of Fallot are more likely to carry the microdeletion, the overall risk of 10% among infants with tetralogy of Fallot warrants chromosome analysis and fluorescent in situ hybridization (FISH) testing routinely, which may be supplanted by genome-wide copy number testing as it becomes more widely utilized. Birth Defects Research (Part A) 85:30-35, 2009. (C) 2008 Wiley-Liss, Inc.