Bohmova J., Vodicka R., Lubusky M., Holuskova I., Studnickova M., Kratochvilova R., Krejcirikova M., Janikova M., Durdova V., Kratochvilova T., Filipova H., Dusek L., Dhaifalah I., Vomackova K., Kacerovsky M., Vrtel R. Clinical potential of effective non-invasive exclusion of KEL1 positive fetuses in KEL1 negative pregnant women. Fetal Diagn. Ther., 2016, 40 (1), p. 48-53. (IF-2,699)
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.
Contact
Professor Marek Lubusky, MD, PhD, MHA
THE FETAL MEDICINE CENTRE
Department of Obstetrics and Gynecology
Palacky University Olomouc, Faculty of Medicine and Dentistry
University Hospital Olomouc
I. P. Pavlova 6, 77520 Olomouc, Czech Republic
Tel: +420 585 852 785
Mobil: +420 606 220 644
E-mail: marek@lubusky.com
Web: www.lubusky.com