Congenital heart defects-chromosomal anomalies, syndromes and extracardiac malformations
Congenital heart defects-chromosomal anomalies, syndromes and extracardiac malformations
复制标题
DOI：
10.1111/j.1651-2227.2007.00381.x
复制
发表时间：
2007-08-01
期刊：
影响因子：
3.8
通讯作者：
Thaulow, Erik
中科院分区：
文献类型：
--
作者：
Meberg, Alf;Hals, Jardar;Thaulow, Erik
目的：登记先天性心脏病（CHD）患者的染色体异常、综合征和心外畸形。方法：基于人群的前瞻性观察研究。结果：在1982-2005年的57027例活产婴儿中，CHD检出率为662例（11.6/1000），其中146例（22%）伴有相关异常。其中52例（36%）有染色体异常（排除微缺失），26例（18%）遗传综合征/微缺失，1例（0.7%）致畸综合征和67例（46%）心外畸形。在膜周部室间隔缺损（VSD）中，70例VSD中有22例（31%）发生相关异常，而位于间隔肌部的VSD中有27例（9%）发生相关异常（p < 0.0001）。从1982-1993年出生的队列到1994-2005年出生的队列，CHD伴相关疾病的患病率显著增加（分别为2.0对3.1/1000; p < 0.0001），主要是由于染色体三体增加（0.5对1.1/1000; p = 0.026）。1982-1993年期间，35岁或35岁以上的妇女活产的百分比为7.6%，而1994-2005年为13.4%（p = 0.001）。结论：近四分之一的CHD病例发生染色体异常、综合征和心外畸形。肌肉型VSD的患病率较低。染色体三体CHD的患病率增加，可能与妇女生育年龄的增加有关。
Aim: To register chromosomal anomalies, syndromes and extracardiac malformations in patients with Congenital heart defects (CHDs).Method: Population-based prospective observational study.Results: Of 57 027 live births during 1982-2005, CHDs were detected in 662 (11.6 per 1000), of whom 146 (22%) had associated anomalies. Of these 52 (36%) had chromosomal anomalies (exclusive microdeletions), 26 (18%) genetic syndromes/microdeletions, 1 (0.7%) a teratogenous syndrome and 67 (46%) extracardiac malformations. In perimembraneous ventricular septal defects (VSDs), associated anomalies occurred in 22 of 70 (31%) compared to 27 of 298 (9%) in VSDs located in the muscular part of the septum (p < 0.0001). The prevalence of CHDs with associated disorders increased significantly from the cohort born during 1982-1993 to those born during 1994-2005 (2.0 vs. 3.1 per 1000, respectively; p < 0.0001), mainly caused by an increase of chromosomal trisomies (0.5 vs. 1.1 per 1000; p = 0.026). The percentage of women giving live birth at 35 years of age or more was 7.6% for the period 1982-1993 compared to 13.4% for 1994-2005 (p = 0.001).Conclusions: Chromosomal anomalies, syndromes and extracardiac malformations occurred in nearly one-fourth of CHD cases. Muscular VSDs had a low prevalence of such conditions. The prevalence of CHDs with chromosomal trisomies increased, and was probably related to an increasing age of women giving birth.