Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?

Srebniak MI, Jehee FS, Joosten M, et al. Acta Obstet Gynecol Scand. 2021;100(11):2036-2043. doi:10.1111/aogs.14256. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2021, Netherlands, CNVs

  • Retrospective study of 12 cases of fetal unbalanced familial translocations, with NIPT and CMA results available.
  • For 10/12 cases, the translocation was accurately detected by NIPT and the parental translocation was previously not known.
  • “Conclusions: This study supports the hypothesis that routine NIPS may be used for prenatal diagnosis of unbalanced inheritance of familial translocations, especially with prior knowledge of the translocation allowing focused examination of the involved chromosomal regions. Our study showed that routine shallow sequencing designed for aneuploidy detection in cell free DNA may be sufficient for higher resolution NIPS, if specialized copy number software is used and if sufficient fetal fraction is present.”