Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies
We used fluorescent in situ hybridisation (FISH) to detect nine chromosomes (1, 13, 15, 16, 17, 18, 21, 22 and X) in 89 first Polar Bodies (1PBs), from in vitro matured oocytes discarded from IVF cycles. In 54 1PBs, we also analysed the corresponding oocyte in metaphase II (MII) to confirm the resul...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2003-04, Vol.11 (4), p.325-336 |
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| creator | Pujol, Aïda Boiso, Irene Benet, Jordi Veiga, Anna Durban, Mercè Campillo, Mercedes Egozcue, Josep Navarro, Joaquima |
| description | We used fluorescent
in situ
hybridisation (FISH) to detect nine chromosomes (1, 13, 15, 16, 17, 18, 21, 22 and X) in 89 first Polar Bodies (1PBs), from
in vitro
matured oocytes discarded from IVF cycles. In 54 1PBs, we also analysed the corresponding oocyte in metaphase II (MII) to confirm the results; the other 35 1PBs were analysed alone as when preimplantation genetic diagnosis using 1PB (PGD-1PB) is performed. The frequency of aneuploid oocytes found was 47.5%; if the risk of aneuploidy for 23 chromosomes is estimated, the percentage rises to 57.2%. Missing chromosomes or chromatids found in 1PBs of 1PB/MII doublets were confirmed by MII results in 74.2%, indicating that only 25.8% of them were artefactual. Abnormalities observed in 1PBs were 55.8% whole-chromosome alterations and 44.2% chromatid anomalies. We observed a balanced predivision of chromatids for all chromosomes analysed. Differences between balanced predivision in 1PB and MII were statistically significant (
P |
| doi_str_mv | 10.1038/sj.ejhg.5200965 |
| format | Article |
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in situ
hybridisation (FISH) to detect nine chromosomes (1, 13, 15, 16, 17, 18, 21, 22 and X) in 89 first Polar Bodies (1PBs), from
in vitro
matured oocytes discarded from IVF cycles. In 54 1PBs, we also analysed the corresponding oocyte in metaphase II (MII) to confirm the results; the other 35 1PBs were analysed alone as when preimplantation genetic diagnosis using 1PB (PGD-1PB) is performed. The frequency of aneuploid oocytes found was 47.5%; if the risk of aneuploidy for 23 chromosomes is estimated, the percentage rises to 57.2%. Missing chromosomes or chromatids found in 1PBs of 1PB/MII doublets were confirmed by MII results in 74.2%, indicating that only 25.8% of them were artefactual. Abnormalities observed in 1PBs were 55.8% whole-chromosome alterations and 44.2% chromatid anomalies. We observed a balanced predivision of chromatids for all chromosomes analysed. Differences between balanced predivision in 1PB and MII were statistically significant (
P
<0.0001,
χ
2
test); the 1PB was most affected. The mean abnormal segregation frequency for each chromosome was 0.89% (range 0.52–1.70%); so, each of the 23 chromosomes of an oocyte has a risk of 0.89% to be involved in aneuploidy. No significant differences were observed regarding age, type of abnormality (chromosome or chromatid alterations) or frequency of aneuploidy. Nine of the 35 patients (25.7%) whose 1PB and MII were studied presented abnormalities (extra chromosomes) that probably originated in early oogenesis. Analysis of 1PBs to select euploid oocytes could help patients of advanced age undergoing
in vitro
fertilization (IVF) treatment.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/sj.ejhg.5200965</identifier><identifier>PMID: 12700606</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Abortion ; Adult ; Age ; Aneuploidy ; Bioinformatics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Biopsy ; Birth control ; Chromatids ; Chromosomes ; Chromosomes - genetics ; Cytogenetics ; Cytoplasm - genetics ; Diagnosis ; Female ; Fertility ; Fertilization ; Fertilization in Vitro ; Gene Expression ; Genetic analysis ; Genetic screening ; Genetics ; Gynecology. Andrology. Obstetrics ; Human Genetics ; Humans ; In Situ Hybridization, Fluorescence ; In vitro fertilization ; Medical sciences ; Metaphase ; Metaphase - genetics ; Oocytes ; Oocytes - chemistry ; Oocytes - cytology ; Oogenesis ; Patients ; Preimplantation Diagnosis - methods ; Risk Assessment ; Statistical analysis ; Sterility. Assisted procreation</subject><ispartof>European journal of human genetics : EJHG, 2003-04, Vol.11 (4), p.325-336</ispartof><rights>Springer Nature Switzerland AG 2003</rights><rights>2003 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Apr 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3695-958e8e2a1f452bb9f00171e4d1471c67cae971238c078f9113c86a45f50764c43</citedby><cites>FETCH-LOGICAL-c3695-958e8e2a1f452bb9f00171e4d1471c67cae971238c078f9113c86a45f50764c43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/sj.ejhg.5200965$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/sj.ejhg.5200965$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,778,782,27911,27912,41475,42544,51306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14710920$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12700606$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pujol, Aïda</creatorcontrib><creatorcontrib>Boiso, Irene</creatorcontrib><creatorcontrib>Benet, Jordi</creatorcontrib><creatorcontrib>Veiga, Anna</creatorcontrib><creatorcontrib>Durban, Mercè</creatorcontrib><creatorcontrib>Campillo, Mercedes</creatorcontrib><creatorcontrib>Egozcue, Josep</creatorcontrib><creatorcontrib>Navarro, Joaquima</creatorcontrib><title>Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><addtitle>Eur J Hum Genet</addtitle><description>We used fluorescent
in situ
hybridisation (FISH) to detect nine chromosomes (1, 13, 15, 16, 17, 18, 21, 22 and X) in 89 first Polar Bodies (1PBs), from
in vitro
matured oocytes discarded from IVF cycles. In 54 1PBs, we also analysed the corresponding oocyte in metaphase II (MII) to confirm the results; the other 35 1PBs were analysed alone as when preimplantation genetic diagnosis using 1PB (PGD-1PB) is performed. The frequency of aneuploid oocytes found was 47.5%; if the risk of aneuploidy for 23 chromosomes is estimated, the percentage rises to 57.2%. Missing chromosomes or chromatids found in 1PBs of 1PB/MII doublets were confirmed by MII results in 74.2%, indicating that only 25.8% of them were artefactual. Abnormalities observed in 1PBs were 55.8% whole-chromosome alterations and 44.2% chromatid anomalies. We observed a balanced predivision of chromatids for all chromosomes analysed. Differences between balanced predivision in 1PB and MII were statistically significant (
P
<0.0001,
χ
2
test); the 1PB was most affected. The mean abnormal segregation frequency for each chromosome was 0.89% (range 0.52–1.70%); so, each of the 23 chromosomes of an oocyte has a risk of 0.89% to be involved in aneuploidy. No significant differences were observed regarding age, type of abnormality (chromosome or chromatid alterations) or frequency of aneuploidy. Nine of the 35 patients (25.7%) whose 1PB and MII were studied presented abnormalities (extra chromosomes) that probably originated in early oogenesis. Analysis of 1PBs to select euploid oocytes could help patients of advanced age undergoing
in vitro
fertilization (IVF) treatment.</description><subject>Abortion</subject><subject>Adult</subject><subject>Age</subject><subject>Aneuploidy</subject><subject>Bioinformatics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Biopsy</subject><subject>Birth control</subject><subject>Chromatids</subject><subject>Chromosomes</subject><subject>Chromosomes - genetics</subject><subject>Cytogenetics</subject><subject>Cytoplasm - genetics</subject><subject>Diagnosis</subject><subject>Female</subject><subject>Fertility</subject><subject>Fertilization</subject><subject>Fertilization in Vitro</subject><subject>Gene Expression</subject><subject>Genetic analysis</subject><subject>Genetic screening</subject><subject>Genetics</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>In vitro fertilization</subject><subject>Medical sciences</subject><subject>Metaphase</subject><subject>Metaphase - genetics</subject><subject>Oocytes</subject><subject>Oocytes - chemistry</subject><subject>Oocytes - cytology</subject><subject>Oogenesis</subject><subject>Patients</subject><subject>Preimplantation Diagnosis - methods</subject><subject>Risk Assessment</subject><subject>Statistical analysis</subject><subject>Sterility. 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Andrology. Obstetrics</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>In vitro fertilization</topic><topic>Medical sciences</topic><topic>Metaphase</topic><topic>Metaphase - genetics</topic><topic>Oocytes</topic><topic>Oocytes - chemistry</topic><topic>Oocytes - cytology</topic><topic>Oogenesis</topic><topic>Patients</topic><topic>Preimplantation Diagnosis - methods</topic><topic>Risk Assessment</topic><topic>Statistical analysis</topic><topic>Sterility. Assisted procreation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pujol, Aïda</creatorcontrib><creatorcontrib>Boiso, Irene</creatorcontrib><creatorcontrib>Benet, Jordi</creatorcontrib><creatorcontrib>Veiga, Anna</creatorcontrib><creatorcontrib>Durban, Mercè</creatorcontrib><creatorcontrib>Campillo, Mercedes</creatorcontrib><creatorcontrib>Egozcue, Josep</creatorcontrib><creatorcontrib>Navarro, Joaquima</creatorcontrib><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>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</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 (ProQuest)</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><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pujol, Aïda</au><au>Boiso, Irene</au><au>Benet, Jordi</au><au>Veiga, Anna</au><au>Durban, Mercè</au><au>Campillo, Mercedes</au><au>Egozcue, Josep</au><au>Navarro, Joaquima</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies</atitle><jtitle>European journal of human genetics : EJHG</jtitle><stitle>Eur J Hum Genet</stitle><addtitle>Eur J Hum Genet</addtitle><date>2003-04-01</date><risdate>2003</risdate><volume>11</volume><issue>4</issue><spage>325</spage><epage>336</epage><pages>325-336</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>We used fluorescent
in situ
hybridisation (FISH) to detect nine chromosomes (1, 13, 15, 16, 17, 18, 21, 22 and X) in 89 first Polar Bodies (1PBs), from
in vitro
matured oocytes discarded from IVF cycles. In 54 1PBs, we also analysed the corresponding oocyte in metaphase II (MII) to confirm the results; the other 35 1PBs were analysed alone as when preimplantation genetic diagnosis using 1PB (PGD-1PB) is performed. The frequency of aneuploid oocytes found was 47.5%; if the risk of aneuploidy for 23 chromosomes is estimated, the percentage rises to 57.2%. Missing chromosomes or chromatids found in 1PBs of 1PB/MII doublets were confirmed by MII results in 74.2%, indicating that only 25.8% of them were artefactual. Abnormalities observed in 1PBs were 55.8% whole-chromosome alterations and 44.2% chromatid anomalies. We observed a balanced predivision of chromatids for all chromosomes analysed. Differences between balanced predivision in 1PB and MII were statistically significant (
P
<0.0001,
χ
2
test); the 1PB was most affected. The mean abnormal segregation frequency for each chromosome was 0.89% (range 0.52–1.70%); so, each of the 23 chromosomes of an oocyte has a risk of 0.89% to be involved in aneuploidy. No significant differences were observed regarding age, type of abnormality (chromosome or chromatid alterations) or frequency of aneuploidy. Nine of the 35 patients (25.7%) whose 1PB and MII were studied presented abnormalities (extra chromosomes) that probably originated in early oogenesis. Analysis of 1PBs to select euploid oocytes could help patients of advanced age undergoing
in vitro
fertilization (IVF) treatment.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>12700606</pmid><doi>10.1038/sj.ejhg.5200965</doi><tpages>12</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1018-4813 |
| ispartof | European journal of human genetics : EJHG, 2003-04, Vol.11 (4), p.325-336 |
| issn | 1018-4813 1476-5438 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73180364 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Springer Nature - Complete Springer Journals |
| subjects | Abortion Adult Age Aneuploidy Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Biopsy Birth control Chromatids Chromosomes Chromosomes - genetics Cytogenetics Cytoplasm - genetics Diagnosis Female Fertility Fertilization Fertilization in Vitro Gene Expression Genetic analysis Genetic screening Genetics Gynecology. Andrology. Obstetrics Human Genetics Humans In Situ Hybridization, Fluorescence In vitro fertilization Medical sciences Metaphase Metaphase - genetics Oocytes Oocytes - chemistry Oocytes - cytology Oogenesis Patients Preimplantation Diagnosis - methods Risk Assessment Statistical analysis Sterility. Assisted procreation |
| title | Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies |
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