Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, 610041, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, 610041, China.
Sci Rep. 2020 Jun 26;10(1):10496. doi: 10.1038/s41598-020-67501-9.
Studies on the occurrence of segmental aneuploidoidy in fetuses with isolated echogenic intracardiac focus (EIF) are scarce. The aim of this study was to analyze whether there is an association between abnormal segmental aneuploidies and isolated EIF. This was a prospective case-control study. The study participants in the case group were fetuses that were diagnosed with isolated EIF. Samples without fetal ultrasound abnormalities but received prenatal diagnosis for other reasons (serological screening high-risk, voluntary request) were set as controls. All pregnant women were younger than 35 years old at the expected date of childbirth. Copy number variation sequencing (CNV-seq) was performed for all samples. The case group and control group successfully underwent CNV-seq analysis and exhibited 1,099 and 5,616 amniotic fluid samples, respectively. The detection rates of abnormal segmental aneuploidies in the case group and control group were 0.6% (7/1,099) and 1.1% (64/5,616), respectively; no statistically significant difference was found between the two groups (x = 2.220, P = 0.136). Isolated EIF did not increase the risk of fetal segmental aneuploidies.
关于孤立性心内强回声焦点（EIF）胎儿中节段性非整倍体发生的研究较少。本研究旨在分析异常节段性非整倍体与孤立性 EIF 是否存在关联。这是一项前瞻性病例对照研究。病例组的研究参与者为被诊断为孤立性 EIF 的胎儿。样本无胎儿超声异常，但因其他原因（血清学筛查高风险、自愿要求）接受产前诊断作为对照组。所有孕妇在预计分娩日期时均小于 35 岁。对所有样本进行拷贝数变异测序（CNV-seq）分析。病例组和对照组均成功进行了 CNV-seq 分析，分别显示 1099 例和 5616 例羊水样本。病例组和对照组异常节段性非整倍体的检出率分别为 0.6%（7/1099）和 1.1%（64/5616）；两组间无统计学差异（x²=2.220，P=0.136）。孤立性 EIF 不会增加胎儿节段性非整倍体的风险。
