Abstract
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 (x2 = 2.220, P = 0.136). Isolated EIF did not increase the risk of fetal segmental aneuploidies.
Highlights
Studies on the occurrence of segmental aneuploidoidy in fetuses with isolated echogenic intracardiac focus (EIF) are scarce
Isolated EIF is associated with high-risk populations with a 4.8-fold increase in relative risk for trisomy 21 (T21)[5], the likelihood ratio for T21 is significant for any marker[6], and the prevalence of EIF is higher in T21 than in chromosomally normal fetuses[7]
Among the 1,099 fetuses with isolated EIF, 763 (69.4%) fetuses had EIF in the left ventricle, 62 (5.6%) in the right ventricle, and 274 (25.0%) in both ventricles; we found 662 fetuses (60.2%) with a single EIF and 437 (39.8%) with multiple EIFs
Summary
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. 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 (x2 = 2.220, P = 0.136). Our previous studies suggested an association between pathogenic copy number variation (CNV) and fetal ultrasound soft marker; the samples contained fetuses with other soft markers (e.g., thickened nuchal fold, echogenic bowel, and mild ventriculomegaly)[14]. Large-sample studies pertaining to the estimation of association between isolated EIF and segmental aneuploidie are scarce
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