The effectiveness of KEL and RHCE fetal genotype assessment in alloimmunized women by minisequencing
OBJECTIVE: To evaluate the effectiveness of the fetal KEL and RHCE genotype assessment in alloimmunized pregnant women by minisequencing.
DESIGN: Prospective cohort study.
SETTING: Obstetrics and Gynecology Clinic of the Faculty of Medicine UP and the University Hospital Olomouc; Institute of Medical Genetics of the Faculty of Medicine UP and the University Hospital Olomouc; Transfusion Department of the University Hospital Olomouc; Institute of Biophysics of the Faculty of Medicine UP Olomouc.
SUBJECT AND METHOD: In the years 2001-2019, 366 samples of pregnant women in the first and second trimester were assessed KEL (n = 327) or RHCE (n = 39) genotype from the free fetal DNA circulating in the peripheral blood by minisequencing. The genotype of the fetus was verified from the buccal smear of the newborn.
RESULTS: The KEL genotype was assessed in 327 women (the presence of a variant of the KEL1 alele, which corresponds to the presence of the erythrocyte antigen “K“. The analysis failed in 2 cases (2/327), 16 heterozygote women (KEL1/KEL2) were excluded and in the case of 309 homozygote women (KEL2/KEL2) the fetal KEL genotype was assessed. In the case of 95.8% of the fetuses (296/309) and 95.5% of the newborns (295/309), the KEL2/KEL2 genotype was assessed. In the case of 4.2 % of the fetuses (13/309) and 4.5% of the newborns (14/309), the KEL1/KEL2 genotype was assessed. The sensitivity was 92.86%. The specificity was 100%. The RHCE genotype was assessed in 39 women. In the case of 22 women, the presence of a variant of the RHCE gene, which corresponds to the presence of the erythrocyte antigen “C“/“c“, was assessed. 5 heterozygote women (C/c) were excluded. In the case of 11 homozygote women (C/C), the RHCE genotype was assessed. In the case of 64% (7/11) of the fetuses and newborns, the C/c genotype was assessed, in the case of 36% (4/11) the C/C genotype was assessed. In the case of 6 homozygote women (c/c), the RHCE genotype was assessed. In the case of 67% (4/6) of the fetuses and newborns, the C/c genotype was assessed, in the case of 33% (2/6) the c/c genotype was assessed. The sensitivity and specificity were 100%. In the case of 17 women, the presence of the variant of the RHCE gene, which corresponds to the presence of the erythrocyte antigen “E“/“e“, was assessed. 1 heterozygote woman (E/e) was excluded. In the case of 16 homozygote women (e/e), the RHCE genotype was assessed. In the case of 75% (12/16) of the fetuses and newborns, the e/e genotype was assessed, in the case of 25% (4/16) the E/e genotype was assessed. The sensitivity and specificity were 100%.
CONCLUSION: The minisequencing method using the capillary electrophoresis enabled a reliable detection of the fetal KEL and RHCE genotype from the peripheral blood of pregnant women.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2020 |
|---|---|
| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:85 |
|---|---|
| Enthalten in: |
Ceska gynekologie - 85(2020), 3 vom: 10., Seite 164-173 |
| Sprache: |
Englisch |
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| Weiterer Titel: |
Efektivita stanovení KEL a RHCE genotypu plodu u aloimunizovaných žen minisekvenací |
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| Beteiligte Personen: |
Durdová, V [VerfasserIn] |
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| Anmerkungen: |
Date Completed 11.02.2021 Date Revised 11.02.2021 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM321232135 |
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| 041 | |a eng | ||
| 100 | 1 | |a Durdová, V |e verfasserin |4 aut | |
| 245 | 1 | 4 | |a The effectiveness of KEL and RHCE fetal genotype assessment in alloimmunized women by minisequencing |
| 246 | 3 | 3 | |a Efektivita stanovení KEL a RHCE genotypu plodu u aloimunizovaných žen minisekvenací |
| 264 | 1 | |c 2020 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
| 338 | |a Band |b nc |2 rdacarrier | ||
| 500 | |a Date Completed 11.02.2021 | ||
| 500 | |a Date Revised 11.02.2021 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To evaluate the effectiveness of the fetal KEL and RHCE genotype assessment in alloimmunized pregnant women by minisequencing | ||
| 520 | |a DESIGN: Prospective cohort study | ||
| 520 | |a SETTING: Obstetrics and Gynecology Clinic of the Faculty of Medicine UP and the University Hospital Olomouc; Institute of Medical Genetics of the Faculty of Medicine UP and the University Hospital Olomouc; Transfusion Department of the University Hospital Olomouc; Institute of Biophysics of the Faculty of Medicine UP Olomouc | ||
| 520 | |a SUBJECT AND METHOD: In the years 2001-2019, 366 samples of pregnant women in the first and second trimester were assessed KEL (n = 327) or RHCE (n = 39) genotype from the free fetal DNA circulating in the peripheral blood by minisequencing. The genotype of the fetus was verified from the buccal smear of the newborn | ||
| 520 | |a RESULTS: The KEL genotype was assessed in 327 women (the presence of a variant of the KEL1 alele, which corresponds to the presence of the erythrocyte antigen “K“. The analysis failed in 2 cases (2/327), 16 heterozygote women (KEL1/KEL2) were excluded and in the case of 309 homozygote women (KEL2/KEL2) the fetal KEL genotype was assessed. In the case of 95.8% of the fetuses (296/309) and 95.5% of the newborns (295/309), the KEL2/KEL2 genotype was assessed. In the case of 4.2 % of the fetuses (13/309) and 4.5% of the newborns (14/309), the KEL1/KEL2 genotype was assessed. The sensitivity was 92.86%. The specificity was 100%. The RHCE genotype was assessed in 39 women. In the case of 22 women, the presence of a variant of the RHCE gene, which corresponds to the presence of the erythrocyte antigen “C“/“c“, was assessed. 5 heterozygote women (C/c) were excluded. In the case of 11 homozygote women (C/C), the RHCE genotype was assessed. In the case of 64% (7/11) of the fetuses and newborns, the C/c genotype was assessed, in the case of 36% (4/11) the C/C genotype was assessed. In the case of 6 homozygote women (c/c), the RHCE genotype was assessed. In the case of 67% (4/6) of the fetuses and newborns, the C/c genotype was assessed, in the case of 33% (2/6) the c/c genotype was assessed. The sensitivity and specificity were 100%. In the case of 17 women, the presence of the variant of the RHCE gene, which corresponds to the presence of the erythrocyte antigen “E“/“e“, was assessed. 1 heterozygote woman (E/e) was excluded. In the case of 16 homozygote women (e/e), the RHCE genotype was assessed. In the case of 75% (12/16) of the fetuses and newborns, the e/e genotype was assessed, in the case of 25% (4/16) the E/e genotype was assessed. The sensitivity and specificity were 100% | ||
| 520 | |a CONCLUSION: The minisequencing method using the capillary electrophoresis enabled a reliable detection of the fetal KEL and RHCE genotype from the peripheral blood of pregnant women | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a KEL and RHCE genotype | |
| 650 | 4 | |a alloimmunization | |
| 650 | 4 | |a cell free DNA | |
| 650 | 4 | |a pregnancy | |
| 650 | 7 | |a Membrane Glycoproteins |2 NLM | |
| 650 | 7 | |a RHCE protein, human |2 NLM | |
| 650 | 7 | |a Rh-Hr Blood-Group System |2 NLM | |
| 650 | 7 | |a DNA |2 NLM | |
| 650 | 7 | |a 9007-49-2 |2 NLM | |
| 650 | 7 | |a KEL protein, human |2 NLM | |
| 650 | 7 | |a EC 3.4.24.- |2 NLM | |
| 650 | 7 | |a Metalloendopeptidases |2 NLM | |
| 650 | 7 | |a EC 3.4.24.- |2 NLM | |
| 700 | 1 | |a Böhmová, J |e verfasserin |4 aut | |
| 700 | 1 | |a Kratochvílová, T |e verfasserin |4 aut | |
| 700 | 1 | |a Vodička, R |e verfasserin |4 aut | |
| 700 | 1 | |a Holusková, I |e verfasserin |4 aut | |
| 700 | 1 | |a Langová, K |e verfasserin |4 aut | |
| 700 | 1 | |a Lubušký, M |e verfasserin |4 aut | |
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