Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report
Purpose To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. Methods and results The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 2...
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| Veröffentlicht in: | Journal of assisted reproduction and genetics 2010-11, Vol.27 (11), p.649-655 |
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| creator | Tauwinklova, Gabriela Gaillyova, Renata Travnik, Pavel Oracova, Eva Vesela, Katerina Hromadova, Lenka Vesely, Jan Musilova, Petra Rubes, Jiri Kadlecova, Jitka Slamova, Iva Makaturova, Eva Vranova, Vladimira |
| description | Purpose
To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes.
Methods and results
The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype.
Conclusions
The discordance in the twins’ karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally. |
| doi_str_mv | 10.1007/s10815-010-9462-z |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2995427</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2202739301</sourcerecordid><originalsourceid>FETCH-LOGICAL-c500t-5734a7882e0cf813f2260e6669433c0aff2f478e15b9e114ad5d2bc2e68dfbbd3</originalsourceid><addsrcrecordid>eNqFkstu1TAQhiMEohd4ADbIYsMqMLYTx2GBhCoKSEVsYG05ziRNSexg-1Cds-LRmcMp5SIhVh5pvvk9l78oHnF4xgGa54mD5nUJHMq2UqLc3SmOed3IspES7lIMtS6hUvqoOEnpCgBaLeT94khAQ_UKjotv74MPu-0Y8uRYvp58YtdTvmT9lFyIvfWZfbZxG_J2xcSGMM-BoJGtEadlnSlv8xQ8G9HjXiK5iOj3hPU9SxTMyHDpSILlaH0aML5gziZkEdcQ84Pi3mDnhA9v3tPi0_nrj2dvy4sPb96dvbooXQ2QS5qqso3WAsENmstBCAWolGorKR3YYRBD1Wjkddci55Xt6150TqDS_dB1vTwtXh501023YO_QUzuzWeO00Hwm2Mn8mfHTpRnDVyPatq5EQwJPbwRi-LLBlM1CO8KZdoBhkwxRiitd_5_UXHAJXCoin_xFXoVN9LQHgmrJm_aHHD9ALoaUIg63TXMwex-Ygw8M-cDsfWB2VPP492lvK34engBxABKl_Ijx18__Vv0OW9XC3A</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>815317957</pqid></control><display><type>article</type><title>Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>SpringerLink Journals - AutoHoldings</source><creator>Tauwinklova, Gabriela ; Gaillyova, Renata ; Travnik, Pavel ; Oracova, Eva ; Vesela, Katerina ; Hromadova, Lenka ; Vesely, Jan ; Musilova, Petra ; Rubes, Jiri ; Kadlecova, Jitka ; Slamova, Iva ; Makaturova, Eva ; Vranova, Vladimira</creator><creatorcontrib>Tauwinklova, Gabriela ; Gaillyova, Renata ; Travnik, Pavel ; Oracova, Eva ; Vesela, Katerina ; Hromadova, Lenka ; Vesely, Jan ; Musilova, Petra ; Rubes, Jiri ; Kadlecova, Jitka ; Slamova, Iva ; Makaturova, Eva ; Vranova, Vladimira</creatorcontrib><description>Purpose
To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes.
Methods and results
The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype.
Conclusions
The discordance in the twins’ karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally.</description><identifier>ISSN: 1058-0468</identifier><identifier>EISSN: 1573-7330</identifier><identifier>DOI: 10.1007/s10815-010-9462-z</identifier><identifier>PMID: 20700760</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Adult ; Chromosome Aberrations ; Chromosomes, Human, Pair 13 ; Female ; Genetics ; Gynecology ; Human Genetics ; Humans ; Medicine ; Medicine & Public Health ; Mosaicism ; Pregnancy ; Preimplantation Diagnosis ; Reproductive Medicine ; Single Embryo Transfer ; Sperm Injections, Intracytoplasmic ; Twins, Monozygotic - genetics</subject><ispartof>Journal of assisted reproduction and genetics, 2010-11, Vol.27 (11), p.649-655</ispartof><rights>Springer Science+Business Media, LLC 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c500t-5734a7882e0cf813f2260e6669433c0aff2f478e15b9e114ad5d2bc2e68dfbbd3</citedby><cites>FETCH-LOGICAL-c500t-5734a7882e0cf813f2260e6669433c0aff2f478e15b9e114ad5d2bc2e68dfbbd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995427/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995427/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,41467,42536,51297,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20700760$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tauwinklova, Gabriela</creatorcontrib><creatorcontrib>Gaillyova, Renata</creatorcontrib><creatorcontrib>Travnik, Pavel</creatorcontrib><creatorcontrib>Oracova, Eva</creatorcontrib><creatorcontrib>Vesela, Katerina</creatorcontrib><creatorcontrib>Hromadova, Lenka</creatorcontrib><creatorcontrib>Vesely, Jan</creatorcontrib><creatorcontrib>Musilova, Petra</creatorcontrib><creatorcontrib>Rubes, Jiri</creatorcontrib><creatorcontrib>Kadlecova, Jitka</creatorcontrib><creatorcontrib>Slamova, Iva</creatorcontrib><creatorcontrib>Makaturova, Eva</creatorcontrib><creatorcontrib>Vranova, Vladimira</creatorcontrib><title>Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report</title><title>Journal of assisted reproduction and genetics</title><addtitle>J Assist Reprod Genet</addtitle><addtitle>J Assist Reprod Genet</addtitle><description>Purpose
To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes.
Methods and results
The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype.
Conclusions
The discordance in the twins’ karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally.</description><subject>Adult</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, Pair 13</subject><subject>Female</subject><subject>Genetics</subject><subject>Gynecology</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mosaicism</subject><subject>Pregnancy</subject><subject>Preimplantation Diagnosis</subject><subject>Reproductive Medicine</subject><subject>Single Embryo Transfer</subject><subject>Sperm Injections, Intracytoplasmic</subject><subject>Twins, Monozygotic - genetics</subject><issn>1058-0468</issn><issn>1573-7330</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkstu1TAQhiMEohd4ADbIYsMqMLYTx2GBhCoKSEVsYG05ziRNSexg-1Cds-LRmcMp5SIhVh5pvvk9l78oHnF4xgGa54mD5nUJHMq2UqLc3SmOed3IspES7lIMtS6hUvqoOEnpCgBaLeT94khAQ_UKjotv74MPu-0Y8uRYvp58YtdTvmT9lFyIvfWZfbZxG_J2xcSGMM-BoJGtEadlnSlv8xQ8G9HjXiK5iOj3hPU9SxTMyHDpSILlaH0aML5gziZkEdcQ84Pi3mDnhA9v3tPi0_nrj2dvy4sPb96dvbooXQ2QS5qqso3WAsENmstBCAWolGorKR3YYRBD1Wjkddci55Xt6150TqDS_dB1vTwtXh501023YO_QUzuzWeO00Hwm2Mn8mfHTpRnDVyPatq5EQwJPbwRi-LLBlM1CO8KZdoBhkwxRiitd_5_UXHAJXCoin_xFXoVN9LQHgmrJm_aHHD9ALoaUIg63TXMwex-Ygw8M-cDsfWB2VPP492lvK34engBxABKl_Ijx18__Vv0OW9XC3A</recordid><startdate>20101101</startdate><enddate>20101101</enddate><creator>Tauwinklova, Gabriela</creator><creator>Gaillyova, Renata</creator><creator>Travnik, Pavel</creator><creator>Oracova, Eva</creator><creator>Vesela, Katerina</creator><creator>Hromadova, Lenka</creator><creator>Vesely, Jan</creator><creator>Musilova, Petra</creator><creator>Rubes, Jiri</creator><creator>Kadlecova, Jitka</creator><creator>Slamova, Iva</creator><creator>Makaturova, Eva</creator><creator>Vranova, Vladimira</creator><general>Springer US</general><general>Springer Nature B.V</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20101101</creationdate><title>Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report</title><author>Tauwinklova, Gabriela ; Gaillyova, Renata ; Travnik, Pavel ; Oracova, Eva ; Vesela, Katerina ; Hromadova, Lenka ; Vesely, Jan ; Musilova, Petra ; Rubes, Jiri ; Kadlecova, Jitka ; Slamova, Iva ; Makaturova, Eva ; Vranova, Vladimira</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c500t-5734a7882e0cf813f2260e6669433c0aff2f478e15b9e114ad5d2bc2e68dfbbd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adult</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, Pair 13</topic><topic>Female</topic><topic>Genetics</topic><topic>Gynecology</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mosaicism</topic><topic>Pregnancy</topic><topic>Preimplantation Diagnosis</topic><topic>Reproductive Medicine</topic><topic>Single Embryo Transfer</topic><topic>Sperm Injections, Intracytoplasmic</topic><topic>Twins, Monozygotic - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tauwinklova, Gabriela</creatorcontrib><creatorcontrib>Gaillyova, Renata</creatorcontrib><creatorcontrib>Travnik, Pavel</creatorcontrib><creatorcontrib>Oracova, Eva</creatorcontrib><creatorcontrib>Vesela, Katerina</creatorcontrib><creatorcontrib>Hromadova, Lenka</creatorcontrib><creatorcontrib>Vesely, Jan</creatorcontrib><creatorcontrib>Musilova, Petra</creatorcontrib><creatorcontrib>Rubes, Jiri</creatorcontrib><creatorcontrib>Kadlecova, Jitka</creatorcontrib><creatorcontrib>Slamova, Iva</creatorcontrib><creatorcontrib>Makaturova, Eva</creatorcontrib><creatorcontrib>Vranova, Vladimira</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of assisted reproduction and genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tauwinklova, Gabriela</au><au>Gaillyova, Renata</au><au>Travnik, Pavel</au><au>Oracova, Eva</au><au>Vesela, Katerina</au><au>Hromadova, Lenka</au><au>Vesely, Jan</au><au>Musilova, Petra</au><au>Rubes, Jiri</au><au>Kadlecova, Jitka</au><au>Slamova, Iva</au><au>Makaturova, Eva</au><au>Vranova, Vladimira</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report</atitle><jtitle>Journal of assisted reproduction and genetics</jtitle><stitle>J Assist Reprod Genet</stitle><addtitle>J Assist Reprod Genet</addtitle><date>2010-11-01</date><risdate>2010</risdate><volume>27</volume><issue>11</issue><spage>649</spage><epage>655</epage><pages>649-655</pages><issn>1058-0468</issn><eissn>1573-7330</eissn><abstract>Purpose
To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes.
Methods and results
The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype.
Conclusions
The discordance in the twins’ karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>20700760</pmid><doi>10.1007/s10815-010-9462-z</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of assisted reproduction and genetics, 2010-11, Vol.27 (11), p.649-655 |
| issn | 1058-0468 1573-7330 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; SpringerLink Journals - AutoHoldings |
| subjects | Adult Chromosome Aberrations Chromosomes, Human, Pair 13 Female Genetics Gynecology Human Genetics Humans Medicine Medicine & Public Health Mosaicism Pregnancy Preimplantation Diagnosis Reproductive Medicine Single Embryo Transfer Sperm Injections, Intracytoplasmic Twins, Monozygotic - genetics |
| title | Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report |
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