Clinical Potential of Effective Noninvasive Exclusion of KEL1-Positive Fetuses in KEL1-Negative Pregnant Women

Fetal Diagn Ther. 2016;40(1):48-53. doi: 10.1159/000441296. Epub 2015 Oct 23.

Abstract

Background: The clinical importance of assessing the fetal KEL genotype is to exclude 'K'-positive fetuses (genotype KEL1/KEL2) in 'K'-alloimmunized pregnant women (genotype KEL2/KEL2). Noninvasive assessment of the fetal KEL genotype is not yet available in the Czech Republic.

Objective: The aim of this study was to assess the fetal KEL1/KEL2 genotype from cell-free fetal DNA in the plasma of KEL2/KEL2 pregnant women.

Methods: The fetal genotype was assessed by minisequencing (a dilution series including control samples). A total of 138 pregnant women (between the 8th and 23rd gestational week) were tested by minisequencing. The fetal genotype was further verified by analysis of a buccal swab from the newborn.

Results: Minisequencing proved to be a reliable method. In 2.2% (3/138) of the examined women, plasma sample testing failed; 94.8% (128/135) had the KEL2/KEL2 genotype, and a total of 3.1% of fetuses (4/128) had the KEL1/KEL2 genotype. Sensitivity and specificity reached 100% (p < 0.0001).

Conclusion: Minisequencing is a reliable method for the assessment of the fetal KEL1 allele from the plasma of KEL2/KEL2 pregnant women.

MeSH terms

  • Adult
  • Blood Group Antigens / genetics*
  • Erythroblastosis, Fetal / diagnosis
  • False Negative Reactions
  • False Positive Reactions
  • Female
  • Fetus*
  • Genotyping Techniques*
  • Humans
  • Membrane Glycoproteins / genetics*
  • Metalloendopeptidases / genetics*
  • Pregnancy
  • Sensitivity and Specificity

Substances

  • Blood Group Antigens
  • Membrane Glycoproteins
  • KEL protein, human
  • Metalloendopeptidases