Volume 24 Issue 5
May  2026
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Article Navigation >  Chinese Journal of General Practice  > 2026  >  24(5): 821-824
ZHOU Pei, YU Mei, WU Renhua, YUAN Jing. Clinical application value of Trio-WES in prenatal diagnosis of fetuses with increased nuchal translucency[J]. Chinese Journal of General Practice, 2026, 24(5): 821-824. doi: 10.16766/j.cnki.issn.1674-4152.004499
Citation: ZHOU Pei, YU Mei, WU Renhua, YUAN Jing. Clinical application value of Trio-WES in prenatal diagnosis of fetuses with increased nuchal translucency[J]. Chinese Journal of General Practice, 2026, 24(5): 821-824. doi: 10.16766/j.cnki.issn.1674-4152.004499
shu

Clinical application value of Trio-WES in prenatal diagnosis of fetuses with increased nuchal translucency

doi: 10.16766/j.cnki.issn.1674-4152.004499

  • Prenatal Diagnostic Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, China

Funds:

 2021YFC1005303

  • Received Date: 2025-10-23
    Available Online: 2026-10-23
    Abstract
  •   Objective  To evaluate the clinical efficacy and application value of trio whole-exome sequencing (Trio-WES) in the prenatal genetic diagnosis of fetuses with increased nuchal translucency (NT).  Methods  A total of 50 singleton pregnancies with increased NT were enrolled from the First Affiliated Hospital of Anhui Medical University between August 2023 and March 2025.All cases underwent concurrent amniotic fluid karyotyping, chromosomal microarray analysis (CMA), and trio-WES.A retrospective comparative analysis of the results was performed.  Results  Genetic testing identified 16(32.0%) abnormal cases and 34(68.0%) normal cases among the 50 fetuses.Specifically, the detection rates were 10.0%(5/50) by karyotyping, 20.0%(10/50) by CMA, and 32.0%(16/50) by Trio-WES.Trio-WES findings included 5 chromosomal aneuploidies (consistent with karyotyping and CMA), 4 copy number variations (consistent with CMA), and 7 pathogenic single-gene variants, yielding an incremental diagnostic yield of 14.0%.No statistically significant difference was observed between karyotyping and CMA (P=0.074).Trio-WES demonstrated a significantly higher detection rate than karyotyping (P < 0.001), while its difference compared to CMA was not statistically significant (P>0.017).In cases with both increased NT and advanced maternal age (≥35 years), the detection rate of Trio-WES was significantly higher (P=0.014).  Conclusion  Trio-WES significantly improves the genetic diagnostic yield for fetuses with increased NT.Its ability to identify single-gene disorders provides unique diagnostic value, demonstrating particular clinical significance in the advanced maternal age population.

     

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