What are the next steps after a Panorama prenatal test shows an increased risk of triploidy, trisomy 18, or trisomy 13?

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Management After Positive Panorama Test for Triploidy, Trisomy 18, or Trisomy 13

Diagnostic testing is absolutely necessary following a positive Panorama prenatal test for triploidy, trisomy 18, or trisomy 13, as NIPS is only a screening test and not diagnostic. 1

Understanding the Screening Result

  • A positive Panorama test (NIPS) indicates an increased risk but is not a definitive diagnosis
  • NIPS analyzes cell-free DNA primarily of placental origin, which may not always represent the true fetal genetic status 1
  • Sources of potential discordant results include:
    • Confined placental mosaicism (CPM)
    • Unrecognized twin or vanishing twin
    • Maternal chromosomal abnormalities
    • Maternal malignancy
    • Technical issues including low fetal fraction
    • Statistical errors 1

Recommended Next Steps

1. Genetic Counseling

  • Immediate referral for genetic counseling is essential for patients with screen-positive NIPS results 1
  • The counselor should explain:
    • The difference between screening and diagnostic tests
    • The specific condition detected and its implications
    • Available diagnostic options and their risks/benefits

2. Diagnostic Testing Options

For Trisomy 18:

  • Amniocentesis is preferred over CVS due to higher reliability
  • If CVS is performed, concordant results in both cytotrophoblast and mesenchymal core are highly reliable (100% definitive diagnosis rate) 2

For Trisomy 13:

  • Amniocentesis is strongly recommended as the primary diagnostic test
  • CVS has a 13.5% rate of mosaic results requiring follow-up amniocentesis 2
  • Only 86.5% of cases achieve definitive diagnosis with CVS alone 2

For Triploidy:

  • Amniocentesis is strongly recommended
  • No cases of triploidy are typically born alive, making accurate diagnosis crucial for management decisions 3
  • Low fetal fraction on NIPS may itself be an indicator of triploidy 4

3. Timing Considerations

  • CVS can be performed earlier (11-13 weeks) but has limitations:
    • Both CVS and NIPS analyze placental tissue, which may have the same genetic anomaly
    • Mosaic results on CVS cannot confirm an affected fetus and require follow-up amniocentesis 1
  • Amniocentesis (15-20 weeks) provides more definitive results but is performed later

Important Caveats

  • Mosaic CVS results should never be considered confirmation of a positive NIPS result 1
  • For trisomy 13 specifically, the likelihood of finding CVS mosaicism requiring amniocentesis is approximately 22% 5
  • The positive predictive value (PPV) of NIPS varies by maternal age and specific condition, with higher PPV in women of advanced maternal age 6
  • Natural outcomes for these conditions are poor:
    • Triploidy: No live births in studied cases
    • Trisomy 13: 33% live birth rate with maximum survival of 87 hours
    • Trisomy 18: 13% live birth rate with very short postnatal survival 3

If Diagnostic Testing is Declined

If parents decline diagnostic testing:

  • A detailed genetics consultation should be arranged at birth
  • Physical examination by a clinical geneticist should be performed
  • If abnormal features are observed, blood chromosome analysis is recommended 1

Remember that while NIPS technology has advanced significantly, it remains a screening test with inherent limitations, and diagnostic confirmation is essential for accurate prenatal counseling and management decisions.

References

1
Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

3
Research

Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis.

American journal of medical genetics. Part A, 2011

4
Research

Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomies 13 and 18 and triploidy in women with low cell-free fetal DNA.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2019

6
Guideline

Trisomía 21 y Edad Materna

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2025

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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