摘要
目的探讨高危孕妇胎儿心室内强回声点(EIF)与染色体核型异常的相关性。方法 提取2007年2月至2010年1月在广西壮族自治区妇幼保健院行产前检查高危孕妇的临床和胎儿EIF结果资料。以胎儿EIF筛查阳性者为EIF病例组,胎儿EIF筛查阴性者为EIF对照组。统计EIF的分布、径线和数量,染色体核型检查结果,超声所见其他系统畸形,其他染色体异常软指标的检出情况以及EIF的随访结果。分析高危孕妇胎儿EIF与染色体核型异常的相关性。结果 4 008例高危孕妇进入分析。EIF病例组227例(5.7%),EIF对照组3 781例(94.3%)。①EIF病例组中213例(93.8%)胎儿EIF为单个性;215例(94.7%)分布于左心室,8例(3.5%)分布于右心室,4例(1.8%)分布于左右心室。EIF径线为1.6～6.5 mm,216例(95.2%)EIF径线在2～3 mm。②EIF病例组染色体核型异常8例(3.5%),其中唐氏综合征5例、特纳综合征1例及平衡易位2例。EIF对照组染色体核型异常88例(2.3%),其中唐氏综合征41例、18-三体综合征12例、13-三体综合征2例、特纳综合征12例、家族性平衡易位16例及倒位5例。EIF与染色体核型异常总体上无显著相关性,OR=1.53(95%CI:0.73～3.20);EIF与唐氏综合征无显著相关性,OR=2.05(95%CI:0.80～5.25)。③EIF病例组检出其他染色体异常软指标18例,其中1例染色体核型检查诊断为唐氏综合征;EIF联合其他超声软指标与唐氏综合征无显著相关性,OR=5.37(95%CI:0.70～41.27)。EIF对照组检出染色体异常软指标64例。④EIF病例组33例高危孕妇中止妊娠。余194例按期来院随访,其中181例(93.3%)在孕期内随着孕周的增加EIF变淡、变小或消失;7例(3.6%)于分娩后3～9个月消失,6例(3.1%)于1年后复查EIF仍存在。结论高危孕妇胎儿EIF与染色体核型异常无显著相关性,EIF联合其他超声软指标与染色体核型异常的相关性仍需扩大样本量进一步观察。
Objective To explore the relationship between fetal echogenic intracardiac focus （EIF）and chromosomal abnormalities in fetuses of pregnancies with high risk factors. Methods Clinical data and EIF results were collected from pregnancies with high risk factors in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from February 2007 to January 2010. Participants whose fetal EIF was positive were enrolled into ElF case group, and those with negative fetal EIF were grouped into EIF control group. The distribution, diameter and number of EIF, karyotype examination results, detection of other system malformations and chromosomal abnormal soft targets, as well as follow-up results of EIF were collected. The relationship between ElF and chromosomal abnormalities in fetus was analyzed. Results In total 4 008 pregnancies with high risk factors were enrolled. Two hundred and twenty-seven（5.7% ） pregnancies were in EIF case group and 3 781 （94.3%） in EIF control group. （1）227 fetuses （5.7%） were detectable for EIF. Among them, 213 （93. 8 % ） were solitary, 215 （94.7%） were in the left ventricle, 8（3.5% ） were in the right ventricle and 4（ 1.8% ） were in the biventricle. The diameters of EIF were 1.6 - 6.5 mm and the EIF diameters of 216 cases（95.2% ） were 2 -3 mm. （2）Among 8 cases （3.5%） identified chromosome abnormalities in EIF case group, 5 were Down＇s syndrome, 1 was Turner syndrome and 2 were balanced translocation. In EIF control group, 88/ 3 781 （2.3%） chromosome abnormalities were identified, including 41 with Down＇s syndrome, 12 with 18-trisomy syndrome, 2 with 13-trisomy syndrome, 12 with Turner syndrome, 16 with familial balanced translocation and 5 with inversion. There was no relationship between EIF and chromosome abnormalities （ OR - 1.53, 95 % CI ：0. 73 - 3.20 ） , also no relationship between EIF and Down＇s syndrome（OR = 2.05, 95% CI： 0.80 -5.25）. （3）In ElF case group, 18 cases were identified with other chromosome abnormal soft targets including 1 with Down＇s syndrome. There was no relationship between ElF combined with other ultrasonic soft targets and Down＇s syndrome（ OR = 5.37,95% CI：0.70 - 41.27）. In EIF control group, 64 cases were detectable for chromosome abnormal soft targets. （4）In ElF case group, 33 women stopped pregnancy. The remaining 194 cases came to the hospital for follow- up according to the schedule. EIF gradually became pale, smaller or disappeared with increased gestational ages in 181/194 cases （93.3%）. EIF disappeared in 7 cases（3.6% ） after birth and still existed in 1 case after 1 year. Conclusions There is no relationship between EIF in fetus of pregnancies with high risk factors and chromosome abnormalities. The relationship between EIF combined with other ultrasonic soft targets and chromosome abnormalities needs further study.
出处
《中国循证儿科杂志》
CSCD
2010年第5期355-359,共5页
Chinese Journal of Evidence Based Pediatrics
基金
国家高科技研究发展计划(863计划):2007AA022442
广西卫生厅科研项目:Z2008200
关键词
胎儿
心室内强回声点
高危孕妇
染色体核型
Fetus
Echogenic intracardiac focus
High risk pregnancies
Chromosome
