Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman

Prenat Diagn. 2022 Jul;42(8):1000-1003. doi: 10.1002/pd.6158. Epub 2022 May 7.


What's already known about this topic?

  1. Discordant NIPT results can rarely unravel maternal malignancies, especially when multiple chromosomal imbalances are reported. Both solid and hematological neoplasms have been described.

What does this study add?

  1. This is the first case of a discordant NIPT result due to Chronic Lymphocytic Leukemia associated with trisomy of the chromosome 12. Putative maternal malignancy should be considered and investigated through sensitive techniques even in presence of a single chromosomal anomaly. This must be considered especially when the imbalance is known to recur in hematological neoplasms.

MeSH terms

  • Adult
  • Cell-Free Nucleic Acids*
  • Female
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell* / diagnosis
  • Leukemia, Lymphocytic, Chronic, B-Cell* / genetics
  • Pregnancy
  • Pregnant Women
  • Prenatal Diagnosis
  • Trisomy / diagnosis
  • Trisomy / genetics
  • Trisomy 13 Syndrome
  • Trisomy 18 Syndrome


  • Cell-Free Nucleic Acids