Volume 22 Issue 11
Nov.  2024
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Article Navigation >  Chinese Journal of General Practice  > 2024  >  22(11): 1859-1862
WANG Di, WANG Jing. A study on the relationship between intracardiac hyperechogenic focus and chromosomal abnormality and prognosis[J]. Chinese Journal of General Practice, 2024, 22(11): 1859-1862. doi: 10.16766/j.cnki.issn.1674-4152.003750
Citation: WANG Di, WANG Jing. A study on the relationship between intracardiac hyperechogenic focus and chromosomal abnormality and prognosis[J]. Chinese Journal of General Practice, 2024, 22(11): 1859-1862. doi: 10.16766/j.cnki.issn.1674-4152.003750
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A study on the relationship between intracardiac hyperechogenic focus and chromosomal abnormality and prognosis

doi: 10.16766/j.cnki.issn.1674-4152.003750
  • 1.

    Graduate School of Bengbu Medical University, Bengbu, Anhui 233030, China

Funds:

 202004j07020024

  • Received Date: 2023-10-10
    Available Online: 2024-12-31
    Abstract
  •   Objective  To investigate the degree of association between intracardiac hyperechogenic focus (ICEF) and genetic chromosomal abnormalities, and to discuss the implications of assessing fetal prognosis.  Methods  A retrospective study design was used to analyze 450 cases of intracardiac hyperechogenic focus singleton pregnancy diagnosed by prenatal ultrasound in Anhui Provincial Hospital from January 2019 to December 2022. By collecting fetal amniotic fluid or umbilical cord blood samples, karyotype analysis and copy number variation sequencing (CNV-seq) techniques were used to perform genetic testing of the specimens, and associated test results and pregnancy outcomes were recorded.  Results  In this study, 14 cases of abnormal karyotype and 15 cases of pathogenic variation of CNV were detected. After karyotype analysis combined with CNV-seq detection, the number of chromosome abnormalities detected in the isolated intracardiac hyperechogenic focus group (2 cases, 9.5%) was lower than that in the non-isolated intracardiac hyperechogenic focus group (19 cases, 90.5%), and the difference was statistically significant (χ2=7.282, P=0.007). Isolated intracardiac hyperechogenic focus was used as control group, the number of chromosomal abnormalities was detected when ICEF was combined with Nuchal Translucency (NT) thickening (3 cases, χ2=28.362, P < 0.001), the number of chromosomal abnormalities was detected when ICEF was combined with fetal cardiac structural abnormalities (7 cases, χ2=7.492, P=0.005). The probability of chromosomal abnormality was significantly increased when ICEF was combined with NT thickening or fetal cardiac structural abnormalities (P < 0.05).  Conclusion  The combined application of karyotype analysis and CNV-seq detection has an important value in improving the detection rate of chromosomal abnormalities in intracardiac hyperechogenic focus. The detection rate of chromosomal abnormalities in non-isolated intracardiac hyperechogenic focus is higher, suggesting that it should be given more attention in clinical practice.

     

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