He Min, Zhang Zhu, Hu Ting, Liu Shanling
Departments of Ultrasound.
Departments of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University/Key Laboratory of Obstetrics & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China.
Medicine (Baltimore). 2020 Jan;99(5):e19014. doi: 10.1097/MD.0000000000019014.
To investigate the association between pathogenic copy number variants (p-CNVs) and abnormal karyotypes detected by chromosomal microarray analysis (CMA) and echogenic intracardiac focus (EIF).This was a retrospective study of fetuses with EIF with CMA data at the Prenatal Diagnosis Center of the West China Second University Hospital of Sichuan University between September 2014 and May 2017. Fetuses were assigned to the isolated EIF and non-isolated EIF groups according to the presence of other ultrasound abnormalities.Among 244 pregnant women, there were 143 cases of isolated EIF and 101 of non-isolated EIF. CMA revealed chromosome abnormality (n = 9 (3.7%): trisomy 21, n = 4; sexual trisomy, n = 2; and p-CNV, n = 3), variants of unknown significance (VOUS, n = 19), and benign CNV (b-CNV, n = 216). Among the fetuses with isolated EIF, 5 had chromosomal abnormalities (3.5%). Among the fetuses with non-isolated EIF, four had chromosomal abnormalities (4.0%). All fetuses with trisomy 21 were in the non-isolated group. The frequency of labor induction was 66.7% (6/9) among the fetuses with chromosome abnormality and 21.1% (4/19) among those with VOUS. Among those with chromosomal abnormalities, one (11.1%) had congenital heart disease.In pregnant women without high-risk factors for chromosomal abnormalities, ultrasound abnormalities, including EIF, could be an indication for CMA. Ultrasound abnormalities (including EIF) and chromosome abnormality could indicate a high risk of CHD. The presence of EIF and at least another ultrasound abnormality could indicate a high risk of trisomy 21.
研究致病性拷贝数变异（p-CNVs）与染色体微阵列分析（CMA）检测到的异常核型及心内强回声光斑（EIF）之间的关联。这是一项对2014年9月至2017年5月在四川大学华西第二医院产前诊断中心有CMA数据的EIF胎儿的回顾性研究。根据是否存在其他超声异常，将胎儿分为孤立性EIF组和非孤立性EIF组。在244名孕妇中，孤立性EIF有143例，非孤立性EIF有101例。CMA显示染色体异常（n = 9（3.7%）：21三体，n = 4；性染色体三体，n = 2；p-CNV，n = 3）、意义未明的变异（VOUS，n = 19）和良性CNV（b-CNV，n = 216）。在孤立性EIF胎儿中，5例有染色体异常（3.5%）。在非孤立性EIF胎儿中，4例有染色体异常（4.0%）。所有21三体胎儿均在非孤立性组。染色体异常胎儿的引产率为66.7%（6/9），VOUS胎儿的引产率为21.1%（4/19）。在染色体异常胎儿中，1例（11.1%）有先天性心脏病。在无染色体异常高危因素的孕妇中，包括EIF在内的超声异常可能是CMA的指征。超声异常（包括EIF）和染色体异常可能提示冠心病风险高。EIF的存在以及至少另一种超声异常可能提示21三体风险高。
