Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study - Takeaways - MDSpire

Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study

  • By

  • Dan Fu

  • Qian Wu

  • Yun Ju

  • Min Jiang

  • Suhua Zhang

  • May 29, 2026

  • 0 min

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  • 1

    Integrating second-trimester ultrasound soft markers with NIPT improved the positive predictive value (PPV) for fetal chromosomal abnormalities.

  • 2

    The study included 303 singleton pregnancies, confirming chromosomal abnormalities in 24 cases (7.9%) through karyotyping.

  • 3

    NIPT alone had a PPV of 55.8%, with 19 false positives, while the combined strategy improved PPV to 83.3% with 98.9% specificity.

  • 4

    The combined model achieved an AUC of 0.987, significantly higher than NIPT alone, indicating better diagnostic accuracy.

  • 5

    Women under 35 years experienced the greatest benefit from the combined approach, with a 28.2 percentage point increase in PPV.

Original Source(s)

Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study

  • by Dan Fu, Qian Wu, Yun Ju, Min Jiang, Suhua Zhang

  • May 29, 2026

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