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Grand Rounds

NIPS in Twin Pregnancy – The Latest Meta-Analysis

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BACKGROUND AND PURPOSE:

  • Gil et al. (Ultrasound in Obstetrics & Gynecology, 2019) assessed the performance of NIPS for twin pregnancies

METHODS:

  • Prospective study and systematic review and meta-analysis
  • Prospective study
    • Twin pregnancies between 10w0d and 14w1d
    • Screened for trisomies 21, 18 and 13 using DANSR NIPS technology
  • NIPS performed after routine first-trimester combined testing
  • Systematic review and meta-analysis
    • Peer-reviewed publications
    • Clinical validation or implementation studies that assessed maternal cfDNA testing for trisomies 21, 18 and 13 in twin pregnancy
    • Technology included massively parallel shotgun sequencing or targeted analysis (either by NGS or custom microarray)

RESULTS:

Prospective study

  • 997 twin pregnancies
  • NIPS correctly classified
    • Trisomy 21: 94.1% (16/17 cases)
    • Trisomy 18: 90.0% (9/10 cases)
    • Trisomy 13: 50.0% (1/2 cases)
    • True negatives (none of the 3 trisomies): 99.4% (962/968 cases)

Meta-Analysis

  • Above data combined with 7 studies from the literature
  • Trisomy 21 detection meta-analysis
    • 56 trisomy 21 | 3718 non-trisomy 21 twin pregnancies
    • Pooled weighted detection rate (DR): 98.2% (95% CI, 83.2–99.8%)
    • FPR 0.05% (95% CI, 0.01–0.26%)
  • Trisomy 18 detection meta-analysis
    • 18 trisomy 18 and 3143 non-trisomy 18 twin pregnancies
    • The pooled weighted DR: 88.9% (95% CI, 64.8–97.2%)
    • FPR 0.03% (95% CI, 0.00–0.33%)
  • Trisomy 13 detection meta-analysis
    • There were only three affected cases
    • Two (66.7%) were detected | FPR of 0.19% (5/2569)

CONCLUSION:

  • NIPS in twins
    • Trisomy 21 performance is similar to singleton pregnancy
    • Trisomy 21 performance is superior to first-trimester combined test or second-trimester biochemical testing
  • The authors note that due to small ‘n’ for trisomies 13 and 18, accurate assessment is limited

Learn More – Primary Sources:

Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: update of The Fetal Medicine Foundation results and meta‐analysis

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Related ObG Topics:

Practical info on evidence based medicine for your women's healthcare practice
cfDNA vs. Routine Screening – How Do They Compare?
What is the Best Strategy for Fetal Aneuploidy Screening?
Does cfDNA in First Trimester Signal Subsequent Preeclampsia?

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