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
- Blood Group Antigens genetics MeSH
- Adult MeSH
- False Negative Reactions MeSH
- False Positive Reactions MeSH
- Genotyping Techniques * MeSH
- Erythroblastosis, Fetal diagnosis MeSH
- Humans MeSH
- Membrane Glycoproteins genetics MeSH
- Metalloendopeptidases genetics MeSH
- Fetus * MeSH
- Sensitivity and Specificity MeSH
- Pregnancy MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- MeSH
- Faculty, Medical MeSH
- Computer-Assisted Instruction methods trends utilization MeSH
- Computer Communication Networks MeSH
- Programmed Instructions as Topic * MeSH
- Publishing MeSH
- Quality Control MeSH
- Education, Medical methods MeSH
- Medical Informatics Applications * MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
- Slovakia MeSH
