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Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue
ABSTRACT Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain rea...
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| Published in: | Prenatal diagnosis 2013-06, Vol.33 (6), p.598-601 |
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| cites | cdi_FETCH-LOGICAL-c4499-5fb7d57c0bfe19f5f4990b7d880a16786cf36fa2dcff470a7dc36a2e95d441be3 |
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| container_title | Prenatal diagnosis |
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| creator | Pan, Min Li, Fa Tao Li, Yan Jiang, Fu Man Li, Dong Zhi Lau, Tze Kin Liao, Can |
| description | ABSTRACT
Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain reaction (QF‐PCR), as well as non‐invasive prenatal testing (NIPT) by maternal plasma sequencing. There were discordant results between fetal karyotyping and NIPT due to UPD 21combined with confined placental mosaicism of trisomy 21. This demonstrated that it is possible to detect placental mosaicism by NIPT, but further studies are required to confirm its sensitivity. Therefore, all positive NIPT results must be confirmed by conventional invasive test and karyotyping. QF‐PCR has the additional benefit in diagnosing UPD. © 2013 John Wiley & Sons, Ltd.
What's already known about this topic?
The non‐invasive prenatal testing (NIPT) by maternal plasma sequencing has been proven to be a safe and highly efficient screening method for fetal aneuploidy. Some studies suggested that these cell‐free DNAs are from the placenta. Therefore, an abnormal NIPT result could be due to confined placental mosaicism.
What does this study add?
We reported here a case of UPD with confined placental mosaicism, which resulted in discordant results between fetal karyotyping and NIPT. |
| doi_str_mv | 10.1002/pd.4069 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1439231444</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1353479960</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4499-5fb7d57c0bfe19f5f4990b7d880a16786cf36fa2dcff470a7dc36a2e95d441be3</originalsourceid><addsrcrecordid>eNqF0dFu1iAUB_DGaNy3aXwDQ-KFJqYTCi3tpdl0My66C90uCYWDYWuhA7qtL-RzSv0-d2FivIIcfvxzck5RvCD4kGBcvZv0IcNN96jYENzxElcVfVxsMMl32tZkr9iP8SrDtur402KvojWluK03xc9jG5UPWrqEAsR5SBH1kO4AHDKQ5ICuZVh8WibrfiDpNHLeldbdymhvAU0BnFxVgphW0S9olAmCy7VpkHGUKMLNDE6tr9YhiZSMgLxBs7OTzP_X79pGPy6oIkjPgJJHKawVq9am1AzPiidGDhGe786D4vvHD9-OTsuzryefjt6flYqxritr03Ndc4V7A6QztclFnEttiyVpeNsoQxsjK62MYRxLrhVtZAVdrRkjPdCD4s02dwo-dx2TGPN8YBikAz9HQRjtKkoYY_-necaMd12DM331F73y8zqi36riLW0oyer1VqngYwxgxBTsmKcvCBbrlsWkxbrlLF_u8uZ-BP3g_qw1g7dbcGcHWP6VI86Pd3HlVtuY4P5By3AtGk55LS6_nIiLU0ovLz5zcU5_AWV3wZg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1352783631</pqid></control><display><type>article</type><title>Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue</title><source>Wiley-Blackwell Read & Publish Collection</source><creator>Pan, Min ; Li, Fa Tao ; Li, Yan ; Jiang, Fu Man ; Li, Dong Zhi ; Lau, Tze Kin ; Liao, Can</creator><creatorcontrib>Pan, Min ; Li, Fa Tao ; Li, Yan ; Jiang, Fu Man ; Li, Dong Zhi ; Lau, Tze Kin ; Liao, Can</creatorcontrib><description>ABSTRACT
Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain reaction (QF‐PCR), as well as non‐invasive prenatal testing (NIPT) by maternal plasma sequencing. There were discordant results between fetal karyotyping and NIPT due to UPD 21combined with confined placental mosaicism of trisomy 21. This demonstrated that it is possible to detect placental mosaicism by NIPT, but further studies are required to confirm its sensitivity. Therefore, all positive NIPT results must be confirmed by conventional invasive test and karyotyping. QF‐PCR has the additional benefit in diagnosing UPD. © 2013 John Wiley & Sons, Ltd.
What's already known about this topic?
The non‐invasive prenatal testing (NIPT) by maternal plasma sequencing has been proven to be a safe and highly efficient screening method for fetal aneuploidy. Some studies suggested that these cell‐free DNAs are from the placenta. Therefore, an abnormal NIPT result could be due to confined placental mosaicism.
What does this study add?
We reported here a case of UPD with confined placental mosaicism, which resulted in discordant results between fetal karyotyping and NIPT.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.4069</identifier><identifier>PMID: 23533085</identifier><language>eng</language><publisher>England: Blackwell Publishing Ltd</publisher><subject>Adult ; Chromosomes, Human, Pair 21 - genetics ; Dosage Compensation, Genetic - physiology ; Female ; Humans ; Karyotyping - methods ; Mosaicism ; Pregnancy - blood ; Prenatal Diagnosis - methods ; Sequence Analysis, DNA - methods ; Trisomy - diagnosis ; Trisomy - genetics ; Uniparental Disomy - diagnosis ; Uniparental Disomy - genetics</subject><ispartof>Prenatal diagnosis, 2013-06, Vol.33 (6), p.598-601</ispartof><rights>2013 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4499-5fb7d57c0bfe19f5f4990b7d880a16786cf36fa2dcff470a7dc36a2e95d441be3</citedby><cites>FETCH-LOGICAL-c4499-5fb7d57c0bfe19f5f4990b7d880a16786cf36fa2dcff470a7dc36a2e95d441be3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23533085$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pan, Min</creatorcontrib><creatorcontrib>Li, Fa Tao</creatorcontrib><creatorcontrib>Li, Yan</creatorcontrib><creatorcontrib>Jiang, Fu Man</creatorcontrib><creatorcontrib>Li, Dong Zhi</creatorcontrib><creatorcontrib>Lau, Tze Kin</creatorcontrib><creatorcontrib>Liao, Can</creatorcontrib><title>Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>ABSTRACT
Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain reaction (QF‐PCR), as well as non‐invasive prenatal testing (NIPT) by maternal plasma sequencing. There were discordant results between fetal karyotyping and NIPT due to UPD 21combined with confined placental mosaicism of trisomy 21. This demonstrated that it is possible to detect placental mosaicism by NIPT, but further studies are required to confirm its sensitivity. Therefore, all positive NIPT results must be confirmed by conventional invasive test and karyotyping. QF‐PCR has the additional benefit in diagnosing UPD. © 2013 John Wiley & Sons, Ltd.
What's already known about this topic?
The non‐invasive prenatal testing (NIPT) by maternal plasma sequencing has been proven to be a safe and highly efficient screening method for fetal aneuploidy. Some studies suggested that these cell‐free DNAs are from the placenta. Therefore, an abnormal NIPT result could be due to confined placental mosaicism.
What does this study add?
We reported here a case of UPD with confined placental mosaicism, which resulted in discordant results between fetal karyotyping and NIPT.</description><subject>Adult</subject><subject>Chromosomes, Human, Pair 21 - genetics</subject><subject>Dosage Compensation, Genetic - physiology</subject><subject>Female</subject><subject>Humans</subject><subject>Karyotyping - methods</subject><subject>Mosaicism</subject><subject>Pregnancy - blood</subject><subject>Prenatal Diagnosis - methods</subject><subject>Sequence Analysis, DNA - methods</subject><subject>Trisomy - diagnosis</subject><subject>Trisomy - genetics</subject><subject>Uniparental Disomy - diagnosis</subject><subject>Uniparental Disomy - genetics</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><recordid>eNqF0dFu1iAUB_DGaNy3aXwDQ-KFJqYTCi3tpdl0My66C90uCYWDYWuhA7qtL-RzSv0-d2FivIIcfvxzck5RvCD4kGBcvZv0IcNN96jYENzxElcVfVxsMMl32tZkr9iP8SrDtur402KvojWluK03xc9jG5UPWrqEAsR5SBH1kO4AHDKQ5ICuZVh8WibrfiDpNHLeldbdymhvAU0BnFxVgphW0S9olAmCy7VpkHGUKMLNDE6tr9YhiZSMgLxBs7OTzP_X79pGPy6oIkjPgJJHKawVq9am1AzPiidGDhGe786D4vvHD9-OTsuzryefjt6flYqxritr03Ndc4V7A6QztclFnEttiyVpeNsoQxsjK62MYRxLrhVtZAVdrRkjPdCD4s02dwo-dx2TGPN8YBikAz9HQRjtKkoYY_-necaMd12DM331F73y8zqi36riLW0oyer1VqngYwxgxBTsmKcvCBbrlsWkxbrlLF_u8uZ-BP3g_qw1g7dbcGcHWP6VI86Pd3HlVtuY4P5By3AtGk55LS6_nIiLU0ovLz5zcU5_AWV3wZg</recordid><startdate>201306</startdate><enddate>201306</enddate><creator>Pan, Min</creator><creator>Li, Fa Tao</creator><creator>Li, Yan</creator><creator>Jiang, Fu Man</creator><creator>Li, Dong Zhi</creator><creator>Lau, Tze Kin</creator><creator>Liao, Can</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7T5</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201306</creationdate><title>Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue</title><author>Pan, Min ; Li, Fa Tao ; Li, Yan ; Jiang, Fu Man ; Li, Dong Zhi ; Lau, Tze Kin ; Liao, Can</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4499-5fb7d57c0bfe19f5f4990b7d880a16786cf36fa2dcff470a7dc36a2e95d441be3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Chromosomes, Human, Pair 21 - genetics</topic><topic>Dosage Compensation, Genetic - physiology</topic><topic>Female</topic><topic>Humans</topic><topic>Karyotyping - methods</topic><topic>Mosaicism</topic><topic>Pregnancy - blood</topic><topic>Prenatal Diagnosis - methods</topic><topic>Sequence Analysis, DNA - methods</topic><topic>Trisomy - diagnosis</topic><topic>Trisomy - genetics</topic><topic>Uniparental Disomy - diagnosis</topic><topic>Uniparental Disomy - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pan, Min</creatorcontrib><creatorcontrib>Li, Fa Tao</creatorcontrib><creatorcontrib>Li, Yan</creatorcontrib><creatorcontrib>Jiang, Fu Man</creatorcontrib><creatorcontrib>Li, Dong Zhi</creatorcontrib><creatorcontrib>Lau, Tze Kin</creatorcontrib><creatorcontrib>Liao, Can</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pan, Min</au><au>Li, Fa Tao</au><au>Li, Yan</au><au>Jiang, Fu Man</au><au>Li, Dong Zhi</au><au>Lau, Tze Kin</au><au>Liao, Can</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2013-06</date><risdate>2013</risdate><volume>33</volume><issue>6</issue><spage>598</spage><epage>601</epage><pages>598-601</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><abstract>ABSTRACT
Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain reaction (QF‐PCR), as well as non‐invasive prenatal testing (NIPT) by maternal plasma sequencing. There were discordant results between fetal karyotyping and NIPT due to UPD 21combined with confined placental mosaicism of trisomy 21. This demonstrated that it is possible to detect placental mosaicism by NIPT, but further studies are required to confirm its sensitivity. Therefore, all positive NIPT results must be confirmed by conventional invasive test and karyotyping. QF‐PCR has the additional benefit in diagnosing UPD. © 2013 John Wiley & Sons, Ltd.
What's already known about this topic?
The non‐invasive prenatal testing (NIPT) by maternal plasma sequencing has been proven to be a safe and highly efficient screening method for fetal aneuploidy. Some studies suggested that these cell‐free DNAs are from the placenta. Therefore, an abnormal NIPT result could be due to confined placental mosaicism.
What does this study add?
We reported here a case of UPD with confined placental mosaicism, which resulted in discordant results between fetal karyotyping and NIPT.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>23533085</pmid><doi>10.1002/pd.4069</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Prenatal diagnosis, 2013-06, Vol.33 (6), p.598-601 |
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| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Adult Chromosomes, Human, Pair 21 - genetics Dosage Compensation, Genetic - physiology Female Humans Karyotyping - methods Mosaicism Pregnancy - blood Prenatal Diagnosis - methods Sequence Analysis, DNA - methods Trisomy - diagnosis Trisomy - genetics Uniparental Disomy - diagnosis Uniparental Disomy - genetics |
| title | Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue |
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