Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing
Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers...
Ausführliche Beschreibung
Autor*in: |
Toft, Christian Liebst Frisk [verfasserIn] Ingerslev, Hans Jakob [verfasserIn] Kesmodel, Ulrik Schiøler [verfasserIn] Hatt, Lotte [verfasserIn] Singh, Ripudaman [verfasserIn] Ravn, Katarina [verfasserIn] Nicolaisen, Bolette Hestbek [verfasserIn] Christensen, Inga Baasch [verfasserIn] Kølvraa, Mathias [verfasserIn] Jeppesen, Line Dahl [verfasserIn] Schelde, Palle [verfasserIn] Vogel, Ida [verfasserIn] Uldbjerg, Niels [verfasserIn] Farlie, Richard [verfasserIn] Sommer, Steffen [verfasserIn] Østergård, Marianne Louise Vang [verfasserIn] Jensen, Ann Nygaard [verfasserIn] Mogensen, Helle [verfasserIn] Kjartansdóttir, Kristín Rós [verfasserIn] Degn, Birte [verfasserIn] Okkels, Henrik [verfasserIn] Ernst, Anja [verfasserIn] Pedersen, Inge Søkilde [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2021 |
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Schlagwörter: |
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Anmerkung: |
© The Author(s) 2021 |
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Übergeordnetes Werk: |
Enthalten in: Journal of assisted reproduction and genetics - Dordrecht [u.a.] : Springer Science + Business Media B.V., 1984, 38(2021), 8 vom: 07. März, Seite 1959-1970 |
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Übergeordnetes Werk: |
volume:38 ; year:2021 ; number:8 ; day:07 ; month:03 ; pages:1959-1970 |
Links: |
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DOI / URN: |
10.1007/s10815-021-02104-5 |
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Katalog-ID: |
SPR044986157 |
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245 | 1 | 0 | |a Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing |
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520 | |a Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 | ||
650 | 4 | |a cbNIPT |7 (dpeaa)DE-He213 | |
650 | 4 | |a PGT-M |7 (dpeaa)DE-He213 | |
650 | 4 | |a Prenatal testing |7 (dpeaa)DE-He213 | |
650 | 4 | |a STR markers |7 (dpeaa)DE-He213 | |
700 | 1 | |a Ingerslev, Hans Jakob |e verfasserin |4 aut | |
700 | 1 | |a Kesmodel, Ulrik Schiøler |e verfasserin |4 aut | |
700 | 1 | |a Hatt, Lotte |e verfasserin |4 aut | |
700 | 1 | |a Singh, Ripudaman |e verfasserin |4 aut | |
700 | 1 | |a Ravn, Katarina |e verfasserin |4 aut | |
700 | 1 | |a Nicolaisen, Bolette Hestbek |e verfasserin |4 aut | |
700 | 1 | |a Christensen, Inga Baasch |e verfasserin |4 aut | |
700 | 1 | |a Kølvraa, Mathias |e verfasserin |4 aut | |
700 | 1 | |a Jeppesen, Line Dahl |e verfasserin |4 aut | |
700 | 1 | |a Schelde, Palle |e verfasserin |4 aut | |
700 | 1 | |a Vogel, Ida |e verfasserin |4 aut | |
700 | 1 | |a Uldbjerg, Niels |e verfasserin |4 aut | |
700 | 1 | |a Farlie, Richard |e verfasserin |4 aut | |
700 | 1 | |a Sommer, Steffen |e verfasserin |4 aut | |
700 | 1 | |a Østergård, Marianne Louise Vang |e verfasserin |4 aut | |
700 | 1 | |a Jensen, Ann Nygaard |e verfasserin |4 aut | |
700 | 1 | |a Mogensen, Helle |e verfasserin |4 aut | |
700 | 1 | |a Kjartansdóttir, Kristín Rós |e verfasserin |4 aut | |
700 | 1 | |a Degn, Birte |e verfasserin |4 aut | |
700 | 1 | |a Okkels, Henrik |e verfasserin |4 aut | |
700 | 1 | |a Ernst, Anja |e verfasserin |4 aut | |
700 | 1 | |a Pedersen, Inge Søkilde |e verfasserin |4 aut | |
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10.1007/s10815-021-02104-5 doi (DE-627)SPR044986157 (SPR)s10815-021-02104-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Toft, Christian Liebst Frisk verfasserin aut Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2021 Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 cbNIPT (dpeaa)DE-He213 PGT-M (dpeaa)DE-He213 Prenatal testing (dpeaa)DE-He213 STR markers (dpeaa)DE-He213 Ingerslev, Hans Jakob verfasserin aut Kesmodel, Ulrik Schiøler verfasserin aut Hatt, Lotte verfasserin aut Singh, Ripudaman verfasserin aut Ravn, Katarina verfasserin aut Nicolaisen, Bolette Hestbek verfasserin aut Christensen, Inga Baasch verfasserin aut Kølvraa, Mathias verfasserin aut Jeppesen, Line Dahl verfasserin aut Schelde, Palle verfasserin aut Vogel, Ida verfasserin aut Uldbjerg, Niels verfasserin aut Farlie, Richard verfasserin aut Sommer, Steffen verfasserin aut Østergård, Marianne Louise Vang verfasserin aut Jensen, Ann Nygaard verfasserin aut Mogensen, Helle verfasserin aut Kjartansdóttir, Kristín Rós verfasserin aut Degn, Birte verfasserin aut Okkels, Henrik verfasserin aut Ernst, Anja verfasserin aut Pedersen, Inge Søkilde verfasserin aut Enthalten in Journal of assisted reproduction and genetics Dordrecht [u.a.] : Springer Science + Business Media B.V., 1984 38(2021), 8 vom: 07. März, Seite 1959-1970 (DE-627)320573060 (DE-600)2016722-2 1573-7330 nnns volume:38 year:2021 number:8 day:07 month:03 pages:1959-1970 https://dx.doi.org/10.1007/s10815-021-02104-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 38 2021 8 07 03 1959-1970 |
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10.1007/s10815-021-02104-5 doi (DE-627)SPR044986157 (SPR)s10815-021-02104-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Toft, Christian Liebst Frisk verfasserin aut Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2021 Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 cbNIPT (dpeaa)DE-He213 PGT-M (dpeaa)DE-He213 Prenatal testing (dpeaa)DE-He213 STR markers (dpeaa)DE-He213 Ingerslev, Hans Jakob verfasserin aut Kesmodel, Ulrik Schiøler verfasserin aut Hatt, Lotte verfasserin aut Singh, Ripudaman verfasserin aut Ravn, Katarina verfasserin aut Nicolaisen, Bolette Hestbek verfasserin aut Christensen, Inga Baasch verfasserin aut Kølvraa, Mathias verfasserin aut Jeppesen, Line Dahl verfasserin aut Schelde, Palle verfasserin aut Vogel, Ida verfasserin aut Uldbjerg, Niels verfasserin aut Farlie, Richard verfasserin aut Sommer, Steffen verfasserin aut Østergård, Marianne Louise Vang verfasserin aut Jensen, Ann Nygaard verfasserin aut Mogensen, Helle verfasserin aut Kjartansdóttir, Kristín Rós verfasserin aut Degn, Birte verfasserin aut Okkels, Henrik verfasserin aut Ernst, Anja verfasserin aut Pedersen, Inge Søkilde verfasserin aut Enthalten in Journal of assisted reproduction and genetics Dordrecht [u.a.] : Springer Science + Business Media B.V., 1984 38(2021), 8 vom: 07. März, Seite 1959-1970 (DE-627)320573060 (DE-600)2016722-2 1573-7330 nnns volume:38 year:2021 number:8 day:07 month:03 pages:1959-1970 https://dx.doi.org/10.1007/s10815-021-02104-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 38 2021 8 07 03 1959-1970 |
allfields_unstemmed |
10.1007/s10815-021-02104-5 doi (DE-627)SPR044986157 (SPR)s10815-021-02104-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Toft, Christian Liebst Frisk verfasserin aut Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2021 Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 cbNIPT (dpeaa)DE-He213 PGT-M (dpeaa)DE-He213 Prenatal testing (dpeaa)DE-He213 STR markers (dpeaa)DE-He213 Ingerslev, Hans Jakob verfasserin aut Kesmodel, Ulrik Schiøler verfasserin aut Hatt, Lotte verfasserin aut Singh, Ripudaman verfasserin aut Ravn, Katarina verfasserin aut Nicolaisen, Bolette Hestbek verfasserin aut Christensen, Inga Baasch verfasserin aut Kølvraa, Mathias verfasserin aut Jeppesen, Line Dahl verfasserin aut Schelde, Palle verfasserin aut Vogel, Ida verfasserin aut Uldbjerg, Niels verfasserin aut Farlie, Richard verfasserin aut Sommer, Steffen verfasserin aut Østergård, Marianne Louise Vang verfasserin aut Jensen, Ann Nygaard verfasserin aut Mogensen, Helle verfasserin aut Kjartansdóttir, Kristín Rós verfasserin aut Degn, Birte verfasserin aut Okkels, Henrik verfasserin aut Ernst, Anja verfasserin aut Pedersen, Inge Søkilde verfasserin aut Enthalten in Journal of assisted reproduction and genetics Dordrecht [u.a.] : Springer Science + Business Media B.V., 1984 38(2021), 8 vom: 07. März, Seite 1959-1970 (DE-627)320573060 (DE-600)2016722-2 1573-7330 nnns volume:38 year:2021 number:8 day:07 month:03 pages:1959-1970 https://dx.doi.org/10.1007/s10815-021-02104-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 38 2021 8 07 03 1959-1970 |
allfieldsGer |
10.1007/s10815-021-02104-5 doi (DE-627)SPR044986157 (SPR)s10815-021-02104-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Toft, Christian Liebst Frisk verfasserin aut Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2021 Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 cbNIPT (dpeaa)DE-He213 PGT-M (dpeaa)DE-He213 Prenatal testing (dpeaa)DE-He213 STR markers (dpeaa)DE-He213 Ingerslev, Hans Jakob verfasserin aut Kesmodel, Ulrik Schiøler verfasserin aut Hatt, Lotte verfasserin aut Singh, Ripudaman verfasserin aut Ravn, Katarina verfasserin aut Nicolaisen, Bolette Hestbek verfasserin aut Christensen, Inga Baasch verfasserin aut Kølvraa, Mathias verfasserin aut Jeppesen, Line Dahl verfasserin aut Schelde, Palle verfasserin aut Vogel, Ida verfasserin aut Uldbjerg, Niels verfasserin aut Farlie, Richard verfasserin aut Sommer, Steffen verfasserin aut Østergård, Marianne Louise Vang verfasserin aut Jensen, Ann Nygaard verfasserin aut Mogensen, Helle verfasserin aut Kjartansdóttir, Kristín Rós verfasserin aut Degn, Birte verfasserin aut Okkels, Henrik verfasserin aut Ernst, Anja verfasserin aut Pedersen, Inge Søkilde verfasserin aut Enthalten in Journal of assisted reproduction and genetics Dordrecht [u.a.] : Springer Science + Business Media B.V., 1984 38(2021), 8 vom: 07. März, Seite 1959-1970 (DE-627)320573060 (DE-600)2016722-2 1573-7330 nnns volume:38 year:2021 number:8 day:07 month:03 pages:1959-1970 https://dx.doi.org/10.1007/s10815-021-02104-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 38 2021 8 07 03 1959-1970 |
allfieldsSound |
10.1007/s10815-021-02104-5 doi (DE-627)SPR044986157 (SPR)s10815-021-02104-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Toft, Christian Liebst Frisk verfasserin aut Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2021 Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 cbNIPT (dpeaa)DE-He213 PGT-M (dpeaa)DE-He213 Prenatal testing (dpeaa)DE-He213 STR markers (dpeaa)DE-He213 Ingerslev, Hans Jakob verfasserin aut Kesmodel, Ulrik Schiøler verfasserin aut Hatt, Lotte verfasserin aut Singh, Ripudaman verfasserin aut Ravn, Katarina verfasserin aut Nicolaisen, Bolette Hestbek verfasserin aut Christensen, Inga Baasch verfasserin aut Kølvraa, Mathias verfasserin aut Jeppesen, Line Dahl verfasserin aut Schelde, Palle verfasserin aut Vogel, Ida verfasserin aut Uldbjerg, Niels verfasserin aut Farlie, Richard verfasserin aut Sommer, Steffen verfasserin aut Østergård, Marianne Louise Vang verfasserin aut Jensen, Ann Nygaard verfasserin aut Mogensen, Helle verfasserin aut Kjartansdóttir, Kristín Rós verfasserin aut Degn, Birte verfasserin aut Okkels, Henrik verfasserin aut Ernst, Anja verfasserin aut Pedersen, Inge Søkilde verfasserin aut Enthalten in Journal of assisted reproduction and genetics Dordrecht [u.a.] : Springer Science + Business Media B.V., 1984 38(2021), 8 vom: 07. März, Seite 1959-1970 (DE-627)320573060 (DE-600)2016722-2 1573-7330 nnns volume:38 year:2021 number:8 day:07 month:03 pages:1959-1970 https://dx.doi.org/10.1007/s10815-021-02104-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 38 2021 8 07 03 1959-1970 |
language |
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Enthalten in Journal of assisted reproduction and genetics 38(2021), 8 vom: 07. März, Seite 1959-1970 volume:38 year:2021 number:8 day:07 month:03 pages:1959-1970 |
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Enthalten in Journal of assisted reproduction and genetics 38(2021), 8 vom: 07. März, Seite 1959-1970 volume:38 year:2021 number:8 day:07 month:03 pages:1959-1970 |
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Toft, Christian Liebst Frisk @@aut@@ Ingerslev, Hans Jakob @@aut@@ Kesmodel, Ulrik Schiøler @@aut@@ Hatt, Lotte @@aut@@ Singh, Ripudaman @@aut@@ Ravn, Katarina @@aut@@ Nicolaisen, Bolette Hestbek @@aut@@ Christensen, Inga Baasch @@aut@@ Kølvraa, Mathias @@aut@@ Jeppesen, Line Dahl @@aut@@ Schelde, Palle @@aut@@ Vogel, Ida @@aut@@ Uldbjerg, Niels @@aut@@ Farlie, Richard @@aut@@ Sommer, Steffen @@aut@@ Østergård, Marianne Louise Vang @@aut@@ Jensen, Ann Nygaard @@aut@@ Mogensen, Helle @@aut@@ Kjartansdóttir, Kristín Rós @@aut@@ Degn, Birte @@aut@@ Okkels, Henrik @@aut@@ Ernst, Anja @@aut@@ Pedersen, Inge Søkilde @@aut@@ |
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2021-03-07T00:00:00Z |
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|
author |
Toft, Christian Liebst Frisk |
spellingShingle |
Toft, Christian Liebst Frisk ddc 610 bkl 44.92 misc cbNIPT misc PGT-M misc Prenatal testing misc STR markers Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing |
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610 ASE 44.92 bkl Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing cbNIPT (dpeaa)DE-He213 PGT-M (dpeaa)DE-He213 Prenatal testing (dpeaa)DE-He213 STR markers (dpeaa)DE-He213 |
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ddc 610 bkl 44.92 misc cbNIPT misc PGT-M misc Prenatal testing misc STR markers |
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Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing |
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Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing |
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Toft, Christian Liebst Frisk |
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Toft, Christian Liebst Frisk Ingerslev, Hans Jakob Kesmodel, Ulrik Schiøler Hatt, Lotte Singh, Ripudaman Ravn, Katarina Nicolaisen, Bolette Hestbek Christensen, Inga Baasch Kølvraa, Mathias Jeppesen, Line Dahl Schelde, Palle Vogel, Ida Uldbjerg, Niels Farlie, Richard Sommer, Steffen Østergård, Marianne Louise Vang Jensen, Ann Nygaard Mogensen, Helle Kjartansdóttir, Kristín Rós Degn, Birte Okkels, Henrik Ernst, Anja Pedersen, Inge Søkilde |
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Toft, Christian Liebst Frisk |
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cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing |
title_auth |
Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing |
abstract |
Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 © The Author(s) 2021 |
abstractGer |
Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 © The Author(s) 2021 |
abstract_unstemmed |
Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated. The cell origin and mutational status were determined by combined testing of STR markers and direct mutation detection using the same setup as during PGT. The cbNIPT results with respect to the mutational status were compared to those of genetic testing of the CVS. Results Eight patients had blood collected between gestational weeks 10 and 13, from which 33 potential fetal cell samples were isolated. Twenty-seven out of 33 isolated cell samples were successfully tested (82%), of which 24 were of fetal origin (89%). This corresponds to a median of 2.5 successfully tested fetal cell samples per case (range 1–6). All fetal cell samples had a genetic profile identical to that of the transferred embryo confirming a pregnancy with an unaffected fetus, in accordance with the CVS results. Conclusion These findings show that although measures are needed to enhance the test success rate and the number of cells identified, cbNIPT is a promising alternative to CVS. Trial registration number N-20180001 © The Author(s) 2021 |
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title_short |
Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing |
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https://dx.doi.org/10.1007/s10815-021-02104-5 |
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Ingerslev, Hans Jakob Kesmodel, Ulrik Schiøler Hatt, Lotte Singh, Ripudaman Ravn, Katarina Nicolaisen, Bolette Hestbek Christensen, Inga Baasch Kølvraa, Mathias Jeppesen, Line Dahl Schelde, Palle Vogel, Ida Uldbjerg, Niels Farlie, Richard Sommer, Steffen Østergård, Marianne Louise Vang Jensen, Ann Nygaard Mogensen, Helle Kjartansdóttir, Kristín Rós Degn, Birte Okkels, Henrik Ernst, Anja Pedersen, Inge Søkilde |
author2Str |
Ingerslev, Hans Jakob Kesmodel, Ulrik Schiøler Hatt, Lotte Singh, Ripudaman Ravn, Katarina Nicolaisen, Bolette Hestbek Christensen, Inga Baasch Kølvraa, Mathias Jeppesen, Line Dahl Schelde, Palle Vogel, Ida Uldbjerg, Niels Farlie, Richard Sommer, Steffen Østergård, Marianne Louise Vang Jensen, Ann Nygaard Mogensen, Helle Kjartansdóttir, Kristín Rós Degn, Birte Okkels, Henrik Ernst, Anja Pedersen, Inge Søkilde |
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10.1007/s10815-021-02104-5 |
up_date |
2024-07-04T03:02:54.261Z |
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|
score |
7.402011 |