Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
Abstract In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-12-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.3211 |
| _version_ | 1819095854540128256 |
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| author | Lotte Hatt Ripudaman Singh Rikke Christensen Katarina Ravn Inga B Christensen Line Dahl Jeppesen Bolette Hestbek Nicolaisen Mathias Kølvraa Palle Schelde Lotte Andreassen Richard Farlie Niels Uldbjerg Ida Vogel |
| author_facet | Lotte Hatt Ripudaman Singh Rikke Christensen Katarina Ravn Inga B Christensen Line Dahl Jeppesen Bolette Hestbek Nicolaisen Mathias Kølvraa Palle Schelde Lotte Andreassen Richard Farlie Niels Uldbjerg Ida Vogel |
| author_sort | Lotte Hatt |
| collection | DOAJ |
| description | Abstract In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs. |
| first_indexed | 2024-12-21T23:49:55Z |
| format | Article |
| id | doaj.art-49ba351be5324a298550ce58e81a9ef7 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-12-21T23:49:55Z |
| publishDate | 2020-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-49ba351be5324a298550ce58e81a9ef72022-12-21T18:45:57ZengWileyClinical Case Reports2050-09042020-12-018122561256710.1002/ccr3.3211Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variationsLotte Hatt0Ripudaman Singh1Rikke Christensen2Katarina Ravn3Inga B Christensen4Line Dahl Jeppesen5Bolette Hestbek Nicolaisen6Mathias Kølvraa7Palle Schelde8Lotte Andreassen9Richard Farlie10Niels Uldbjerg11Ida Vogel12ARCEDI Biotech ApS Vejle DenmarkARCEDI Biotech ApS Vejle DenmarkCenter for Fetal Diagnostics Department of Clinical Genetics Aarhus University Hospital Aarhus DenmarkARCEDI Biotech ApS Vejle DenmarkARCEDI Biotech ApS Vejle DenmarkARCEDI Biotech ApS Vejle DenmarkARCEDI Biotech ApS Vejle DenmarkARCEDI Biotech ApS Vejle DenmarkARCEDI Biotech ApS Vejle DenmarkCenter for Fetal Diagnostics Department of Clinical Genetics Aarhus University Hospital Aarhus DenmarkDepartment of Women's Disease and Birth Viborg Hospital Viborg DenmarkDepartment of Women's Disease and Birth Aarhus University Hospital Aarhus DenmarkCenter for Fetal Diagnostics Department of Clinical Genetics Aarhus University Hospital Aarhus DenmarkAbstract In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.https://doi.org/10.1002/ccr3.32113p deletion3p26 deletioncell‐based noninvasive prenatal testingcopy number variationNoninvasive prenatal testingPrader‐Willi syndrome |
| spellingShingle | Lotte Hatt Ripudaman Singh Rikke Christensen Katarina Ravn Inga B Christensen Line Dahl Jeppesen Bolette Hestbek Nicolaisen Mathias Kølvraa Palle Schelde Lotte Andreassen Richard Farlie Niels Uldbjerg Ida Vogel Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations Clinical Case Reports 3p deletion 3p26 deletion cell‐based noninvasive prenatal testing copy number variation Noninvasive prenatal testing Prader‐Willi syndrome |
| title | Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations |
| title_full | Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations |
| title_fullStr | Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations |
| title_full_unstemmed | Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations |
| title_short | Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations |
| title_sort | cell based noninvasive prenatal testing cbnipt detects pathogenic copy number variations |
| topic | 3p deletion 3p26 deletion cell‐based noninvasive prenatal testing copy number variation Noninvasive prenatal testing Prader‐Willi syndrome |
| url | https://doi.org/10.1002/ccr3.3211 |
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