Detection of an Inherited Deletion in Products of Conception in a Patient With Recurrent Losses and Normal Karyotype
BACKGROUND:Microarray analysis testing on products of conception can provide valuable information in the evaluation of recurrent pregnancy loss beyond ploidy status. CASE:A maternally inherited deletion on the X chromosome was detected by microarray analysis performed on products of conception in a...
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| Veröffentlicht in: | Obstetrics and gynecology (New York. 1953) 2017-07, Vol.130 (1), p.126-129 |
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| container_title | Obstetrics and gynecology (New York. 1953) |
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| creator | Thorne, Jeffrey Craffey, Alicia Nulsen, John C. |
| description | BACKGROUND:Microarray analysis testing on products of conception can provide valuable information in the evaluation of recurrent pregnancy loss beyond ploidy status.
CASE:A maternally inherited deletion on the X chromosome was detected by microarray analysis performed on products of conception in a couple with recurrent pregnancy loss. The mother had a previously demonstrated normal karyotype with standard cytogenetic analysis but was subsequently determined to have the same X chromosome deletion by oligonucleotide single-nucleotide polymorphism (SNP) microarray analysis.
CONCLUSION:Direct testing of products of conception using oligonucleotide SNP microarray identified a maternally inherited microdeletion on the X chromosome in a patient with recurrent losses and normal karyotype. Going forward, the couple may use preimplantation genetic diagnosis testing to identify embryos free of this deletion for transfer. |
| doi_str_mv | 10.1097/AOG.0000000000002104 |
| format | Article |
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CASE:A maternally inherited deletion on the X chromosome was detected by microarray analysis performed on products of conception in a couple with recurrent pregnancy loss. The mother had a previously demonstrated normal karyotype with standard cytogenetic analysis but was subsequently determined to have the same X chromosome deletion by oligonucleotide single-nucleotide polymorphism (SNP) microarray analysis.
CONCLUSION:Direct testing of products of conception using oligonucleotide SNP microarray identified a maternally inherited microdeletion on the X chromosome in a patient with recurrent losses and normal karyotype. Going forward, the couple may use preimplantation genetic diagnosis testing to identify embryos free of this deletion for transfer.</description><identifier>ISSN: 0029-7844</identifier><identifier>EISSN: 1873-233X</identifier><identifier>DOI: 10.1097/AOG.0000000000002104</identifier><identifier>PMID: 28594768</identifier><language>eng</language><publisher>United States: Lippincott Williams & Wilkins</publisher><subject>Abortion, Habitual - genetics ; Adult ; Chromosome Aberrations ; Cytogenetic Analysis ; Female ; Fetus ; Humans ; Oligonucleotide Array Sequence Analysis ; Pregnancy ; Prenatal Diagnosis</subject><ispartof>Obstetrics and gynecology (New York. 1953), 2017-07, Vol.130 (1), p.126-129</ispartof><rights>Lippincott Williams & Wilkins</rights><rights>2017 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4014-ce1bdbe42416f8477d6314be748e4992e824909612d6dcc6519664e017470cfb3</citedby><cites>FETCH-LOGICAL-c4014-ce1bdbe42416f8477d6314be748e4992e824909612d6dcc6519664e017470cfb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28594768$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Thorne, Jeffrey</creatorcontrib><creatorcontrib>Craffey, Alicia</creatorcontrib><creatorcontrib>Nulsen, John C.</creatorcontrib><title>Detection of an Inherited Deletion in Products of Conception in a Patient With Recurrent Losses and Normal Karyotype</title><title>Obstetrics and gynecology (New York. 1953)</title><addtitle>Obstet Gynecol</addtitle><description>BACKGROUND:Microarray analysis testing on products of conception can provide valuable information in the evaluation of recurrent pregnancy loss beyond ploidy status.
CASE:A maternally inherited deletion on the X chromosome was detected by microarray analysis performed on products of conception in a couple with recurrent pregnancy loss. The mother had a previously demonstrated normal karyotype with standard cytogenetic analysis but was subsequently determined to have the same X chromosome deletion by oligonucleotide single-nucleotide polymorphism (SNP) microarray analysis.
CONCLUSION:Direct testing of products of conception using oligonucleotide SNP microarray identified a maternally inherited microdeletion on the X chromosome in a patient with recurrent losses and normal karyotype. Going forward, the couple may use preimplantation genetic diagnosis testing to identify embryos free of this deletion for transfer.</description><subject>Abortion, Habitual - genetics</subject><subject>Adult</subject><subject>Chromosome Aberrations</subject><subject>Cytogenetic Analysis</subject><subject>Female</subject><subject>Fetus</subject><subject>Humans</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><issn>0029-7844</issn><issn>1873-233X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV9P2zAUxa0JNArbN5iQH3kJ2M6t_zxWhRVERdG0aXuLEudGDUvjznZU8e3nUECIh80v1vX9nePrY0K-cHbOmVEXs9XinL1ZgjP4QCZcqzwTef7rgEzSocmUBjgixyE8JIhLk38kR0JPDSipJyReYkQbW9dT19Cypzf9Gn0bsaaX2OFTo-3pvXf1YGMYobnrLW5fOiW9L2OLfaQ_27im39AO3o_l0oWAIVnW9M75TdnR29I_uvi4xU_ksCm7gJ-f9xPy4-vV9_l1tlwtbuazZWaBccgs8qquEARw2WhQqpY5hwoVaARjBGoBhhnJRS1ra-WUGykBGVegmG2q_ISc7X233v0ZMMRi0waLXVf26IZQcMM05JJxkVDYo9anuT02xda3mzRwwVkx5l2kvIv3eSfZ6fMNQ7XB-lX0EnAC9B7YuS6iD7-7YYe-WGPZxfX_vOEf0hGTYsoykd7LVKqy8X9V_hfhK5tp</recordid><startdate>20170701</startdate><enddate>20170701</enddate><creator>Thorne, Jeffrey</creator><creator>Craffey, Alicia</creator><creator>Nulsen, John C.</creator><general>Lippincott Williams & Wilkins</general><general>by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved</general><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>7X8</scope></search><sort><creationdate>20170701</creationdate><title>Detection of an Inherited Deletion in Products of Conception in a Patient With Recurrent Losses and Normal Karyotype</title><author>Thorne, Jeffrey ; Craffey, Alicia ; Nulsen, John C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4014-ce1bdbe42416f8477d6314be748e4992e824909612d6dcc6519664e017470cfb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Abortion, Habitual - genetics</topic><topic>Adult</topic><topic>Chromosome Aberrations</topic><topic>Cytogenetic Analysis</topic><topic>Female</topic><topic>Fetus</topic><topic>Humans</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Thorne, Jeffrey</creatorcontrib><creatorcontrib>Craffey, Alicia</creatorcontrib><creatorcontrib>Nulsen, John C.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Obstetrics and gynecology (New York. 1953)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Thorne, Jeffrey</au><au>Craffey, Alicia</au><au>Nulsen, John C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of an Inherited Deletion in Products of Conception in a Patient With Recurrent Losses and Normal Karyotype</atitle><jtitle>Obstetrics and gynecology (New York. 1953)</jtitle><addtitle>Obstet Gynecol</addtitle><date>2017-07-01</date><risdate>2017</risdate><volume>130</volume><issue>1</issue><spage>126</spage><epage>129</epage><pages>126-129</pages><issn>0029-7844</issn><eissn>1873-233X</eissn><abstract>BACKGROUND:Microarray analysis testing on products of conception can provide valuable information in the evaluation of recurrent pregnancy loss beyond ploidy status.
CASE:A maternally inherited deletion on the X chromosome was detected by microarray analysis performed on products of conception in a couple with recurrent pregnancy loss. The mother had a previously demonstrated normal karyotype with standard cytogenetic analysis but was subsequently determined to have the same X chromosome deletion by oligonucleotide single-nucleotide polymorphism (SNP) microarray analysis.
CONCLUSION:Direct testing of products of conception using oligonucleotide SNP microarray identified a maternally inherited microdeletion on the X chromosome in a patient with recurrent losses and normal karyotype. Going forward, the couple may use preimplantation genetic diagnosis testing to identify embryos free of this deletion for transfer.</abstract><cop>United States</cop><pub>Lippincott Williams & Wilkins</pub><pmid>28594768</pmid><doi>10.1097/AOG.0000000000002104</doi><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0029-7844 |
| ispartof | Obstetrics and gynecology (New York. 1953), 2017-07, Vol.130 (1), p.126-129 |
| issn | 0029-7844 1873-233X |
| language | eng |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | Abortion, Habitual - genetics Adult Chromosome Aberrations Cytogenetic Analysis Female Fetus Humans Oligonucleotide Array Sequence Analysis Pregnancy Prenatal Diagnosis |
| title | Detection of an Inherited Deletion in Products of Conception in a Patient With Recurrent Losses and Normal Karyotype |
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