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Objective <p>To evaluate the residual risk of clinically significant copy number variations (CNVs) in fetuses with ultrasonographic&#xa0;soft markers by its various types after excluding theoretically non-invasive prenatal screening (NIPS)-detectable abnormalities.</p> Methods <p>This study included 2005 fetuses with soft markers undergoing chromosomal microarray analysis (CMA) between 2015 and 2024. Theoretically NIPS-detectable findings were categorized into three subgroups: 3-chromosome NIPS, 5-chromosome NIPS, and genome-wide NIPS. The residual risk was calculated and compared with a low-risk control cohort. We further assessed their clinical outcomes.</p> Results <p>The overall diagnostic yield of clinically significant CMA findings in fetuses with soft markers was 6.38%. Overall, the residual risk was 4.67% for 3-chromosome NIPS, 4.19% for 5-chromosome NIPS, and 3.25% for genome-wide NIPS. Except for isolated single umbilical artery (genome-wide NIPS), echogenic intracardiac focus, and aberrant right subclavian artery (all NIPS models), the residual risk was significantly higher for most soft marker types when compared with the control cohort. Among fetuses with normal CMA results and successful follow-up, a significantly lower rate of normal infant was identified in fetuses with four types of soft markers (mild ventriculomegaly, echogenic bowel, short femur length, and mild pyelectasis) compared with the control cohort.</p> Conclusion <p>The residual risk in fetuses with multiple soft markers and most isolated soft markers (absent or hypoplastic nasal bone, mild ventriculomegaly, thickened nuchal fold, echogenic bowel, short femur length, mild pyelectasis, and choroid plexus cysts) was higher than that in low-risk pregnancies. CNV analysis is recommended for such fetuses, regardless of whether NIPS has been performed previously.</p>

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Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月18日

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  • Yixuan Liang,
  • Ran Zhou,
  • Tingting Liu,
  • Jie Gao,
  • Yiyun Xu,
  • Mingtao Huang,
  • Lulu Meng,
  • Haiqin Huo,
  • Qinxin Zhang,
  • Yun Wu,
  • Zhengfeng Xu,
  • Yan Wang

摘要

Objective

To evaluate the residual risk of clinically significant copy number variations (CNVs) in fetuses with ultrasonographic soft markers by its various types after excluding theoretically non-invasive prenatal screening (NIPS)-detectable abnormalities.

Methods

This study included 2005 fetuses with soft markers undergoing chromosomal microarray analysis (CMA) between 2015 and 2024. Theoretically NIPS-detectable findings were categorized into three subgroups: 3-chromosome NIPS, 5-chromosome NIPS, and genome-wide NIPS. The residual risk was calculated and compared with a low-risk control cohort. We further assessed their clinical outcomes.

Results

The overall diagnostic yield of clinically significant CMA findings in fetuses with soft markers was 6.38%. Overall, the residual risk was 4.67% for 3-chromosome NIPS, 4.19% for 5-chromosome NIPS, and 3.25% for genome-wide NIPS. Except for isolated single umbilical artery (genome-wide NIPS), echogenic intracardiac focus, and aberrant right subclavian artery (all NIPS models), the residual risk was significantly higher for most soft marker types when compared with the control cohort. Among fetuses with normal CMA results and successful follow-up, a significantly lower rate of normal infant was identified in fetuses with four types of soft markers (mild ventriculomegaly, echogenic bowel, short femur length, and mild pyelectasis) compared with the control cohort.

Conclusion

The residual risk in fetuses with multiple soft markers and most isolated soft markers (absent or hypoplastic nasal bone, mild ventriculomegaly, thickened nuchal fold, echogenic bowel, short femur length, mild pyelectasis, and choroid plexus cysts) was higher than that in low-risk pregnancies. CNV analysis is recommended for such fetuses, regardless of whether NIPS has been performed previously.