Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy
In most reported cases of uniparental disomy (UPD) associated with confined placental mosaicism (CPM), a high level of mosaicism or a full trisomy was found in chorionic villi. At the time that we started our investigations, it was not quite clear whether fetal UPD also existed in the more frequentl...
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| Veröffentlicht in: | Prenatal diagnosis 1998-01, Vol.18 (1), p.35-44 |
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| creator | Van Opstal, Diane van den Berg, Cardi Deelen, Wout H. Brandenburg, Helen Cohen-Overbeek, Titia E. Halley, Dicky J. J. van den Ouweland, Ans M. W. In 't Veld, Peter A. Los, Frans J. |
| description | In most reported cases of uniparental disomy (UPD) associated with confined placental mosaicism (CPM), a high level of mosaicism or a full trisomy was found in chorionic villi. At the time that we started our investigations, it was not quite clear whether fetal UPD also existed in the more frequently occurring low levels of mosaicism. During a 4‐year period, a follow‐up amniocentesis was performed in all cases of mosaic or non‐mosaic trisomy detected in chorionic villus (CV) semi‐direct preparations and suspected to be confined to the placenta. We performed fluorescent in situ hybridization (FISH) on uncultured amniotic fluid cells to differentiate between generalized mosaicism and CPM. We found 29 cases of CPM and we determined the incidence of UPD in 23 of these cases. Normal biparental chromosome contributions were found in 22 cases. In one case, we detected a maternal heterodisomy for chromosome 16. UPD appeared to be a rare phenomenon in the cases of CPM (type I and/or type III) that we encountered in 3958 consecutively investigated CV samples, and is not the cause of the pregnancy complications found in seven out of 23 cases with CPM. © 1998 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/(SICI)1097-0223(199801)18:1<35::AID-PD214>3.0.CO;2-L |
| format | Article |
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J. ; van den Ouweland, Ans M. W. ; In 't Veld, Peter A. ; Los, Frans J.</creator><creatorcontrib>Van Opstal, Diane ; van den Berg, Cardi ; Deelen, Wout H. ; Brandenburg, Helen ; Cohen-Overbeek, Titia E. ; Halley, Dicky J. J. ; van den Ouweland, Ans M. W. ; In 't Veld, Peter A. ; Los, Frans J.</creatorcontrib><description>In most reported cases of uniparental disomy (UPD) associated with confined placental mosaicism (CPM), a high level of mosaicism or a full trisomy was found in chorionic villi. At the time that we started our investigations, it was not quite clear whether fetal UPD also existed in the more frequently occurring low levels of mosaicism. During a 4‐year period, a follow‐up amniocentesis was performed in all cases of mosaic or non‐mosaic trisomy detected in chorionic villus (CV) semi‐direct preparations and suspected to be confined to the placenta. We performed fluorescent in situ hybridization (FISH) on uncultured amniotic fluid cells to differentiate between generalized mosaicism and CPM. We found 29 cases of CPM and we determined the incidence of UPD in 23 of these cases. Normal biparental chromosome contributions were found in 22 cases. In one case, we detected a maternal heterodisomy for chromosome 16. UPD appeared to be a rare phenomenon in the cases of CPM (type I and/or type III) that we encountered in 3958 consecutively investigated CV samples, and is not the cause of the pregnancy complications found in seven out of 23 cases with CPM. © 1998 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/(SICI)1097-0223(199801)18:1<35::AID-PD214>3.0.CO;2-L</identifier><identifier>PMID: 9483638</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Amniocentesis ; Biological and medical sciences ; Cells, Cultured ; Chorionic Villi Sampling ; Chromosome Aberrations ; confined placental mosaicism ; Congenital Abnormalities - genetics ; DNA - analysis ; Female ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization ; In Situ Hybridization, Fluorescence ; interphase FISH ; Management. Prenatal diagnosis ; Medical sciences ; Mosaicism ; Placenta ; Polymerase Chain Reaction ; Pregnancy ; Pregnancy Outcome ; Pregnancy. Fetus. Placenta ; Prenatal Diagnosis ; Prospective Studies ; Trisomy ; trisomy 16 ; uncultured amniotic fluid cells ; uniparental disomy</subject><ispartof>Prenatal diagnosis, 1998-01, Vol.18 (1), p.35-44</ispartof><rights>Copyright © 1998 John Wiley & Sons, Ltd.</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c4284-6ba0d690b4b01ce012f5e1f110a072099a0464d77a9c4f65ba72e90ed7d509333</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C35%3A%3AAID-PD214%3E3.0.CO%3B2-L$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C35%3A%3AAID-PD214%3E3.0.CO%3B2-L$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,4024,27923,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2121145$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9483638$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Van Opstal, Diane</creatorcontrib><creatorcontrib>van den Berg, Cardi</creatorcontrib><creatorcontrib>Deelen, Wout H.</creatorcontrib><creatorcontrib>Brandenburg, Helen</creatorcontrib><creatorcontrib>Cohen-Overbeek, Titia E.</creatorcontrib><creatorcontrib>Halley, Dicky J. J.</creatorcontrib><creatorcontrib>van den Ouweland, Ans M. W.</creatorcontrib><creatorcontrib>In 't Veld, Peter A.</creatorcontrib><creatorcontrib>Los, Frans J.</creatorcontrib><title>Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>In most reported cases of uniparental disomy (UPD) associated with confined placental mosaicism (CPM), a high level of mosaicism or a full trisomy was found in chorionic villi. At the time that we started our investigations, it was not quite clear whether fetal UPD also existed in the more frequently occurring low levels of mosaicism. During a 4‐year period, a follow‐up amniocentesis was performed in all cases of mosaic or non‐mosaic trisomy detected in chorionic villus (CV) semi‐direct preparations and suspected to be confined to the placenta. We performed fluorescent in situ hybridization (FISH) on uncultured amniotic fluid cells to differentiate between generalized mosaicism and CPM. We found 29 cases of CPM and we determined the incidence of UPD in 23 of these cases. Normal biparental chromosome contributions were found in 22 cases. In one case, we detected a maternal heterodisomy for chromosome 16. UPD appeared to be a rare phenomenon in the cases of CPM (type I and/or type III) that we encountered in 3958 consecutively investigated CV samples, and is not the cause of the pregnancy complications found in seven out of 23 cases with CPM. © 1998 John Wiley & Sons, Ltd.</description><subject>Amniocentesis</subject><subject>Biological and medical sciences</subject><subject>Cells, Cultured</subject><subject>Chorionic Villi Sampling</subject><subject>Chromosome Aberrations</subject><subject>confined placental mosaicism</subject><subject>Congenital Abnormalities - genetics</subject><subject>DNA - analysis</subject><subject>Female</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>interphase FISH</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Mosaicism</subject><subject>Placenta</subject><subject>Polymerase Chain Reaction</subject><subject>Pregnancy</subject><subject>Pregnancy Outcome</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal Diagnosis</subject><subject>Prospective Studies</subject><subject>Trisomy</subject><subject>trisomy 16</subject><subject>uncultured amniotic fluid cells</subject><subject>uniparental disomy</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kVFv0zAUhSMEGt3gJyDlAaHtIeVeO4njbkKaMiiVqrWiQ0i8XLmOgzzSJMTpRv897lL1BcSTLZ_Px9fnBMEVwhgB2Pvz1SyfXSBIEQFj_BylzAAvMJvgFU8mk-vZTbS8YRh_4GMY54tLFs2fBaPjhefBCNDveZbgy-DUuXvvmjEpToITGWc85dkouF92jWuN7u2DCdvO1KpXVWjrB-N6-0P1tqld2NRh2_Sm7q3XtrVtlQf3XGFds9l5PNTKGQ-WoW7q0tamCNtK6YHquyfsVfCiVJUzrw_rWfD108e7_HM0X0xn-fU80jHL4ihdKyhSCet4DagNICsTgyUiKBAMpFQQp3EhhJI6LtNkrQQzEkwhigQk5_wseDf4tl3za-v_QRvrtKkqVZtm60hIAYBcevBuALXPwHWmpLazG9XtCIH2FRDtK6B9orRPlIYKCDNC4gmRr4CeKiBOQPmCGM297ZvD-9v1xhRH00PmXn970JXTqio7VWvrjhhDhhgn_BjPo63M7q_R_j_ZvwYbDrxvNPha15vfR1_V_aRUcJHQt9sp3U6_f8mXq5RW_A8joL5C</recordid><startdate>199801</startdate><enddate>199801</enddate><creator>Van Opstal, Diane</creator><creator>van den Berg, Cardi</creator><creator>Deelen, Wout H.</creator><creator>Brandenburg, Helen</creator><creator>Cohen-Overbeek, Titia E.</creator><creator>Halley, Dicky J. J.</creator><creator>van den Ouweland, Ans M. W.</creator><creator>In 't Veld, Peter A.</creator><creator>Los, Frans J.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</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>7X8</scope></search><sort><creationdate>199801</creationdate><title>Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy</title><author>Van Opstal, Diane ; van den Berg, Cardi ; Deelen, Wout H. ; Brandenburg, Helen ; Cohen-Overbeek, Titia E. ; Halley, Dicky J. J. ; van den Ouweland, Ans M. W. ; In 't Veld, Peter A. ; Los, Frans J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4284-6ba0d690b4b01ce012f5e1f110a072099a0464d77a9c4f65ba72e90ed7d509333</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Amniocentesis</topic><topic>Biological and medical sciences</topic><topic>Cells, Cultured</topic><topic>Chorionic Villi Sampling</topic><topic>Chromosome Aberrations</topic><topic>confined placental mosaicism</topic><topic>Congenital Abnormalities - genetics</topic><topic>DNA - analysis</topic><topic>Female</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>interphase FISH</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Mosaicism</topic><topic>Placenta</topic><topic>Polymerase Chain Reaction</topic><topic>Pregnancy</topic><topic>Pregnancy Outcome</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis</topic><topic>Prospective Studies</topic><topic>Trisomy</topic><topic>trisomy 16</topic><topic>uncultured amniotic fluid cells</topic><topic>uniparental disomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Van Opstal, Diane</creatorcontrib><creatorcontrib>van den Berg, Cardi</creatorcontrib><creatorcontrib>Deelen, Wout H.</creatorcontrib><creatorcontrib>Brandenburg, Helen</creatorcontrib><creatorcontrib>Cohen-Overbeek, Titia E.</creatorcontrib><creatorcontrib>Halley, Dicky J. J.</creatorcontrib><creatorcontrib>van den Ouweland, Ans M. W.</creatorcontrib><creatorcontrib>In 't Veld, Peter A.</creatorcontrib><creatorcontrib>Los, Frans J.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><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>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Van Opstal, Diane</au><au>van den Berg, Cardi</au><au>Deelen, Wout H.</au><au>Brandenburg, Helen</au><au>Cohen-Overbeek, Titia E.</au><au>Halley, Dicky J. J.</au><au>van den Ouweland, Ans M. W.</au><au>In 't Veld, Peter A.</au><au>Los, Frans J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1998-01</date><risdate>1998</risdate><volume>18</volume><issue>1</issue><spage>35</spage><epage>44</epage><pages>35-44</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>In most reported cases of uniparental disomy (UPD) associated with confined placental mosaicism (CPM), a high level of mosaicism or a full trisomy was found in chorionic villi. At the time that we started our investigations, it was not quite clear whether fetal UPD also existed in the more frequently occurring low levels of mosaicism. During a 4‐year period, a follow‐up amniocentesis was performed in all cases of mosaic or non‐mosaic trisomy detected in chorionic villus (CV) semi‐direct preparations and suspected to be confined to the placenta. We performed fluorescent in situ hybridization (FISH) on uncultured amniotic fluid cells to differentiate between generalized mosaicism and CPM. We found 29 cases of CPM and we determined the incidence of UPD in 23 of these cases. Normal biparental chromosome contributions were found in 22 cases. In one case, we detected a maternal heterodisomy for chromosome 16. UPD appeared to be a rare phenomenon in the cases of CPM (type I and/or type III) that we encountered in 3958 consecutively investigated CV samples, and is not the cause of the pregnancy complications found in seven out of 23 cases with CPM. © 1998 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>9483638</pmid><doi>10.1002/(SICI)1097-0223(199801)18:1<35::AID-PD214>3.0.CO;2-L</doi><tpages>10</tpages></addata></record> |
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| subjects | Amniocentesis Biological and medical sciences Cells, Cultured Chorionic Villi Sampling Chromosome Aberrations confined placental mosaicism Congenital Abnormalities - genetics DNA - analysis Female Gynecology. Andrology. Obstetrics Humans In Situ Hybridization In Situ Hybridization, Fluorescence interphase FISH Management. Prenatal diagnosis Medical sciences Mosaicism Placenta Polymerase Chain Reaction Pregnancy Pregnancy Outcome Pregnancy. Fetus. Placenta Prenatal Diagnosis Prospective Studies Trisomy trisomy 16 uncultured amniotic fluid cells uniparental disomy |
| title | Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy |
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