-
Je něco špatně v tomto záznamu ?
Optimization of diagnostic strategy for non-invasive cell-free foetal RHD determination from maternal plasma
E. Pazourkova, I. Zednikova, M. Korabecna, J. Kralova, M. Pisacka, M. Novotna, P. Calda, A. Horinek
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články
Grantová podpora
RVO-VFN 64165
Ministry of Health, Czech Republic
LTACH19005
Ministry of Education, Youth and Sports, Czech Republic
Progres Q25/LF1
Ministry of Education, Youth and Sports, Czech Republic
PubMed
33761162
DOI
10.1111/vox.13099
Knihovny.cz E-zdroje
- MeSH
- DNA MeSH
- genotyp MeSH
- kojenec MeSH
- krevní skupiny - systém Rh-Hr * genetika MeSH
- kvantitativní polymerázová řetězová reakce MeSH
- lidé MeSH
- plod MeSH
- prenatální diagnóza * MeSH
- těhotenství MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND AND OBJECTIVES: The aim of the study was to optimize routine non-invasive prenatal detection of fetal RHD gene from plasma of RhD-negative pregnant women (the median of gestational age was 25 weeks, range 10-38) to detect RhD materno-fetal incompatibility and to avoid the redundant immunoprophylaxis. MATERIALS AND METHODS: Initially only one exon of RHD gene (exon 10) was investigated in 281 plasma samples (144 verified after delivery), in the second phase three RHD exons (5, 7, 10) were analyzed in 246 samples of plasma and maternal genomic DNA (204 verified) by real-time PCR method. Detection of Y-chromosomal sequence DYS-14 and five X-chromosomal insertion/deletion polymorphisms was used to confirm the fetal cfDNA detectability in plasma. Specific polymorphisms in RHD gene were detected by sequence-specific primer PCR in nine samples. RESULTS: When only the RHD exon 10 was tested, 2·8% of verified samples were false positive and 3·5% false negative. With three RHD exons (5, 7, 10) and maternal genomic DNA testing, only one case was false negative (0·5%). Nine samples were inconclusive due to RHD-positive results in maternal genomic DNA. These samples were analyzed for specific mutations in RHD gene. Combination of both methods for fetal cfDNA verification succeeded in 75% of tested group. CONCLUSION: Implementation of analysis of three RHD exons and maternal genomic DNA to routine practice lowers dramatically the ratio of false positive and negative results. This method enables more accurate determination of fetal RHD status with the reduction of unnecessary medical care and RhD immunoprophylaxis.
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc22003642
- 003
- CZ-PrNML
- 005
- 20220127150037.0
- 007
- ta
- 008
- 220113s2021 xxk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1111/vox.13099 $2 doi
- 035 __
- $a (PubMed)33761162
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxk
- 100 1_
- $a Pazourkova, Eva $u Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic $u Department of Nephrology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic
- 245 10
- $a Optimization of diagnostic strategy for non-invasive cell-free foetal RHD determination from maternal plasma / $c E. Pazourkova, I. Zednikova, M. Korabecna, J. Kralova, M. Pisacka, M. Novotna, P. Calda, A. Horinek
- 520 9_
- $a BACKGROUND AND OBJECTIVES: The aim of the study was to optimize routine non-invasive prenatal detection of fetal RHD gene from plasma of RhD-negative pregnant women (the median of gestational age was 25 weeks, range 10-38) to detect RhD materno-fetal incompatibility and to avoid the redundant immunoprophylaxis. MATERIALS AND METHODS: Initially only one exon of RHD gene (exon 10) was investigated in 281 plasma samples (144 verified after delivery), in the second phase three RHD exons (5, 7, 10) were analyzed in 246 samples of plasma and maternal genomic DNA (204 verified) by real-time PCR method. Detection of Y-chromosomal sequence DYS-14 and five X-chromosomal insertion/deletion polymorphisms was used to confirm the fetal cfDNA detectability in plasma. Specific polymorphisms in RHD gene were detected by sequence-specific primer PCR in nine samples. RESULTS: When only the RHD exon 10 was tested, 2·8% of verified samples were false positive and 3·5% false negative. With three RHD exons (5, 7, 10) and maternal genomic DNA testing, only one case was false negative (0·5%). Nine samples were inconclusive due to RHD-positive results in maternal genomic DNA. These samples were analyzed for specific mutations in RHD gene. Combination of both methods for fetal cfDNA verification succeeded in 75% of tested group. CONCLUSION: Implementation of analysis of three RHD exons and maternal genomic DNA to routine practice lowers dramatically the ratio of false positive and negative results. This method enables more accurate determination of fetal RHD status with the reduction of unnecessary medical care and RhD immunoprophylaxis.
- 650 _2
- $a DNA $7 D004247
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a plod $7 D005333
- 650 _2
- $a genotyp $7 D005838
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a kojenec $7 D007223
- 650 _2
- $a těhotenství $7 D011247
- 650 12
- $a prenatální diagnóza $7 D011296
- 650 _2
- $a kvantitativní polymerázová řetězová reakce $7 D060888
- 650 12
- $a krevní skupiny - systém Rh-Hr $x genetika $7 D012204
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Zednikova, Iveta $u Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic
- 700 1_
- $a Korabecna, Marie $u Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic
- 700 1_
- $a Kralova, Jana $u Department of Immunohematology, Institute of Hematology and Blood Transfusion, Prague, Czech Republic
- 700 1_
- $a Pisacka, Martin $u Department of Immunohematology, Institute of Hematology and Blood Transfusion, Prague, Czech Republic
- 700 1_
- $a Novotna, Michaela $u Department of Obstetrics and Gynecology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic
- 700 1_
- $a Calda, Pavel $u Department of Obstetrics and Gynecology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic
- 700 1_
- $a Horinek, Ales $u Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic $u 3rd Department of Medicine, Department of Endocrinology and Metabolism, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic
- 773 0_
- $w MED00010756 $t Vox sanguinis $x 1423-0410 $g Roč. 116, č. 9 (2021), s. 1012-1019
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/33761162 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20220113 $b ABA008
- 991 __
- $a 20220127150033 $b ABA008
- 999 __
- $a ok $b bmc $g 1751183 $s 1154791
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2021 $b 116 $c 9 $d 1012-1019 $e 20210324 $i 1423-0410 $m Vox sanguinis $n Vox Sang $x MED00010756
- GRA __
- $a RVO-VFN 64165 $p Ministry of Health, Czech Republic
- GRA __
- $a LTACH19005 $p Ministry of Education, Youth and Sports, Czech Republic
- GRA __
- $a Progres Q25/LF1 $p Ministry of Education, Youth and Sports, Czech Republic
- LZP __
- $a Pubmed-20220113
