The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis
Objective To assess ovarian response among carriers of FMR1 premutation who undergo preimplantation genetic diagnosis (PGD). Design Retrospective study. Setting Academic IVF unit. Patient(s) Of 18 carriers of FMR1 premutation referred to PGD, eight had
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| Veröffentlicht in: | Fertility and sterility 2010-08, Vol.94 (3), p.869-874 |
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| creator | Bibi, Guy, M.D Malcov, Mira, Ph.D Yuval, Yaron, M.D Reches, Adi, M.D Ben-Yosef, Dalit, Ph.D Almog, Beni, M.D Amit, Ami, M.D Azem, Foad, M.D |
| description | Objective To assess ovarian response among carriers of FMR1 premutation who undergo preimplantation genetic diagnosis (PGD). Design Retrospective study. Setting Academic IVF unit. Patient(s) Of 18 carriers of FMR1 premutation referred to PGD, eight had |
| doi_str_mv | 10.1016/j.fertnstert.2009.04.047 |
| format | Article |
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Design Retrospective study. Setting Academic IVF unit. Patient(s) Of 18 carriers of FMR1 premutation referred to PGD, eight had <100 CGG repeats and ten had ≥100 CGG repeats. Intervention(s) Controlled ovarian stimulation (COH) and PGD. Main Outcome Measure(s) Correlation between the number of CGG repeats and the level of E2 at day of hCG administration, number of retrieved oocytes, number of two-pronuclear (2PN) zygotes, and dose of recombinant FSH. Result(s) There was a positive correlation between CGG repeats and the level of E2 at day of hCG administration, number of retrieved oocytes, and number of 2PN zygotes. There was a negative correlation between number of CGG repeats and the total dose of gonadotropins. The E2 level and the number of retrieved oocytes and 2PN zygotes were significantly higher and the dose of gonadotropins significantly lower for premutation patients with ≥100 CGG repeats compared with <100 CGG repeats. Conclusion(s) There is a positive correlation between E2 level, retrieved oocytes, 2PN zygotes, and number of CGG repeats. Premutation carriers with <100 CGG repeats suffer from impaired ovarian response and decreased fertilization rate.</description><identifier>ISSN: 0015-0282</identifier><identifier>EISSN: 1556-5653</identifier><identifier>DOI: 10.1016/j.fertnstert.2009.04.047</identifier><identifier>PMID: 19481741</identifier><identifier>CODEN: FESTAS</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adult ; Base Sequence ; Biological and medical sciences ; Case-Control Studies ; COH ; Female ; Fertility Agents, Female - administration & dosage ; FMR1 premutation ; Follicle Stimulating Hormone - administration & dosage ; Fragile X Mental Retardation Protein - genetics ; Genetic Predisposition to Disease ; Gynecology. Andrology. Obstetrics ; Heterozygote ; Humans ; Infertility, Female - genetics ; Infertility, Female - physiopathology ; Internal Medicine ; Medical sciences ; Obstetrics and Gynecology ; ovarian response ; Ovary - drug effects ; Ovary - physiology ; Ovulation Induction ; PGD ; Pregnancy ; Pregnancy Rate ; Preimplantation Diagnosis ; Recombinant Proteins - administration & dosage ; Retrospective Studies ; Trinucleotide Repeat Expansion - genetics ; Trinucleotide Repeat Expansion - physiology</subject><ispartof>Fertility and sterility, 2010-08, Vol.94 (3), p.869-874</ispartof><rights>American Society for Reproductive Medicine</rights><rights>2010 American Society for Reproductive Medicine</rights><rights>2015 INIST-CNRS</rights><rights>Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c508t-53e960f0c20d72cfa7dc276991a9ed6624863031e8f286ff904f5584d008b8a53</citedby><cites>FETCH-LOGICAL-c508t-53e960f0c20d72cfa7dc276991a9ed6624863031e8f286ff904f5584d008b8a53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0015028209010152$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23087504$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19481741$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bibi, Guy, M.D</creatorcontrib><creatorcontrib>Malcov, Mira, Ph.D</creatorcontrib><creatorcontrib>Yuval, Yaron, M.D</creatorcontrib><creatorcontrib>Reches, Adi, M.D</creatorcontrib><creatorcontrib>Ben-Yosef, Dalit, Ph.D</creatorcontrib><creatorcontrib>Almog, Beni, M.D</creatorcontrib><creatorcontrib>Amit, Ami, M.D</creatorcontrib><creatorcontrib>Azem, Foad, M.D</creatorcontrib><title>The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis</title><title>Fertility and sterility</title><addtitle>Fertil Steril</addtitle><description>Objective To assess ovarian response among carriers of FMR1 premutation who undergo preimplantation genetic diagnosis (PGD). Design Retrospective study. Setting Academic IVF unit. Patient(s) Of 18 carriers of FMR1 premutation referred to PGD, eight had <100 CGG repeats and ten had ≥100 CGG repeats. Intervention(s) Controlled ovarian stimulation (COH) and PGD. Main Outcome Measure(s) Correlation between the number of CGG repeats and the level of E2 at day of hCG administration, number of retrieved oocytes, number of two-pronuclear (2PN) zygotes, and dose of recombinant FSH. Result(s) There was a positive correlation between CGG repeats and the level of E2 at day of hCG administration, number of retrieved oocytes, and number of 2PN zygotes. There was a negative correlation between number of CGG repeats and the total dose of gonadotropins. The E2 level and the number of retrieved oocytes and 2PN zygotes were significantly higher and the dose of gonadotropins significantly lower for premutation patients with ≥100 CGG repeats compared with <100 CGG repeats. Conclusion(s) There is a positive correlation between E2 level, retrieved oocytes, 2PN zygotes, and number of CGG repeats. Premutation carriers with <100 CGG repeats suffer from impaired ovarian response and decreased fertilization rate.</description><subject>Adult</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>COH</subject><subject>Female</subject><subject>Fertility Agents, Female - administration & dosage</subject><subject>FMR1 premutation</subject><subject>Follicle Stimulating Hormone - administration & dosage</subject><subject>Fragile X Mental Retardation Protein - genetics</subject><subject>Genetic Predisposition to Disease</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Infertility, Female - genetics</subject><subject>Infertility, Female - physiopathology</subject><subject>Internal Medicine</subject><subject>Medical sciences</subject><subject>Obstetrics and Gynecology</subject><subject>ovarian response</subject><subject>Ovary - drug effects</subject><subject>Ovary - physiology</subject><subject>Ovulation Induction</subject><subject>PGD</subject><subject>Pregnancy</subject><subject>Pregnancy Rate</subject><subject>Preimplantation Diagnosis</subject><subject>Recombinant Proteins - administration & dosage</subject><subject>Retrospective Studies</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><subject>Trinucleotide Repeat Expansion - physiology</subject><issn>0015-0282</issn><issn>1556-5653</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNks-K1TAUxosoznX0FSQbcdXrSdqk6UbQi16FAReO4C7kpic11zapSTswD-B7m3KLA66Ew8ni_M4fvi9FQSjsKVDx5ry3GGef5pz3DKDdQ52jeVTsKOei5IJXj4sdAOUlMMmuimcpnQFA0IY9La5oW0va1HRX_L79gQStRTOTYMnheCQRJ9Qz8ct4wkiCJ-FOR6d9LqQp-IREj8H3xEbduwHJdzJFHJdZzy7DRsfoMCay-A5jH1wmc92N06D9xvTocXaGdE73PiSXnhdPrB4Svtje6-Lbxw-3h0_lzZfj58O7m9JwkHPJK2wFWDAMuoYZq5vOsEa0LdUtdkKwWooKKorSMimsbaG2nMu6A5AnqXl1Xby-zJ1i-LVgmtXoksEhn4ZhSaqp21UuJjIpL6SJIaWIVk3RjTreKwpq9UCd1YMHavVAQZ2jya0vtyXLacTuoXETPQOvNkAno4esozcu_eVYBbLhUGfu_YXDLMldFlUl49Ab7FzMfqkuuP-55u0_Q8zgvMt7f-I9pnNYos-SK6oSU6C-rn9m1QBayIM5q_4AznrBgw</recordid><startdate>20100801</startdate><enddate>20100801</enddate><creator>Bibi, Guy, M.D</creator><creator>Malcov, Mira, Ph.D</creator><creator>Yuval, Yaron, M.D</creator><creator>Reches, Adi, M.D</creator><creator>Ben-Yosef, Dalit, Ph.D</creator><creator>Almog, Beni, M.D</creator><creator>Amit, Ami, M.D</creator><creator>Azem, Foad, M.D</creator><general>Elsevier Inc</general><general>Elsevier</general><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>20100801</creationdate><title>The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis</title><author>Bibi, Guy, M.D ; Malcov, Mira, Ph.D ; Yuval, Yaron, M.D ; Reches, Adi, M.D ; Ben-Yosef, Dalit, Ph.D ; Almog, Beni, M.D ; Amit, Ami, M.D ; Azem, Foad, M.D</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c508t-53e960f0c20d72cfa7dc276991a9ed6624863031e8f286ff904f5584d008b8a53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adult</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>COH</topic><topic>Female</topic><topic>Fertility Agents, Female - administration & dosage</topic><topic>FMR1 premutation</topic><topic>Follicle Stimulating Hormone - administration & dosage</topic><topic>Fragile X Mental Retardation Protein - genetics</topic><topic>Genetic Predisposition to Disease</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Infertility, Female - genetics</topic><topic>Infertility, Female - physiopathology</topic><topic>Internal Medicine</topic><topic>Medical sciences</topic><topic>Obstetrics and Gynecology</topic><topic>ovarian response</topic><topic>Ovary - drug effects</topic><topic>Ovary - physiology</topic><topic>Ovulation Induction</topic><topic>PGD</topic><topic>Pregnancy</topic><topic>Pregnancy Rate</topic><topic>Preimplantation Diagnosis</topic><topic>Recombinant Proteins - administration & dosage</topic><topic>Retrospective Studies</topic><topic>Trinucleotide Repeat Expansion - genetics</topic><topic>Trinucleotide Repeat Expansion - physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bibi, Guy, M.D</creatorcontrib><creatorcontrib>Malcov, Mira, Ph.D</creatorcontrib><creatorcontrib>Yuval, Yaron, M.D</creatorcontrib><creatorcontrib>Reches, Adi, M.D</creatorcontrib><creatorcontrib>Ben-Yosef, Dalit, Ph.D</creatorcontrib><creatorcontrib>Almog, Beni, M.D</creatorcontrib><creatorcontrib>Amit, Ami, M.D</creatorcontrib><creatorcontrib>Azem, Foad, M.D</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>MEDLINE - Academic</collection><jtitle>Fertility and sterility</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bibi, Guy, M.D</au><au>Malcov, Mira, Ph.D</au><au>Yuval, Yaron, M.D</au><au>Reches, Adi, M.D</au><au>Ben-Yosef, Dalit, Ph.D</au><au>Almog, Beni, M.D</au><au>Amit, Ami, M.D</au><au>Azem, Foad, M.D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis</atitle><jtitle>Fertility and sterility</jtitle><addtitle>Fertil Steril</addtitle><date>2010-08-01</date><risdate>2010</risdate><volume>94</volume><issue>3</issue><spage>869</spage><epage>874</epage><pages>869-874</pages><issn>0015-0282</issn><eissn>1556-5653</eissn><coden>FESTAS</coden><abstract>Objective To assess ovarian response among carriers of FMR1 premutation who undergo preimplantation genetic diagnosis (PGD). Design Retrospective study. Setting Academic IVF unit. Patient(s) Of 18 carriers of FMR1 premutation referred to PGD, eight had <100 CGG repeats and ten had ≥100 CGG repeats. Intervention(s) Controlled ovarian stimulation (COH) and PGD. Main Outcome Measure(s) Correlation between the number of CGG repeats and the level of E2 at day of hCG administration, number of retrieved oocytes, number of two-pronuclear (2PN) zygotes, and dose of recombinant FSH. Result(s) There was a positive correlation between CGG repeats and the level of E2 at day of hCG administration, number of retrieved oocytes, and number of 2PN zygotes. There was a negative correlation between number of CGG repeats and the total dose of gonadotropins. The E2 level and the number of retrieved oocytes and 2PN zygotes were significantly higher and the dose of gonadotropins significantly lower for premutation patients with ≥100 CGG repeats compared with <100 CGG repeats. Conclusion(s) There is a positive correlation between E2 level, retrieved oocytes, 2PN zygotes, and number of CGG repeats. Premutation carriers with <100 CGG repeats suffer from impaired ovarian response and decreased fertilization rate.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>19481741</pmid><doi>10.1016/j.fertnstert.2009.04.047</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Fertility and sterility, 2010-08, Vol.94 (3), p.869-874 |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present); Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adult Base Sequence Biological and medical sciences Case-Control Studies COH Female Fertility Agents, Female - administration & dosage FMR1 premutation Follicle Stimulating Hormone - administration & dosage Fragile X Mental Retardation Protein - genetics Genetic Predisposition to Disease Gynecology. Andrology. Obstetrics Heterozygote Humans Infertility, Female - genetics Infertility, Female - physiopathology Internal Medicine Medical sciences Obstetrics and Gynecology ovarian response Ovary - drug effects Ovary - physiology Ovulation Induction PGD Pregnancy Pregnancy Rate Preimplantation Diagnosis Recombinant Proteins - administration & dosage Retrospective Studies Trinucleotide Repeat Expansion - genetics Trinucleotide Repeat Expansion - physiology |
| title | The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis |
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