Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report
Since 1999, the Erasme Hospital Fertility Clinic has carried a special programme for patients with HIV seropositivity. The philosophy of the programme is to give access to these patients in a secure environment to the same technological facilities available to any other patients. Many of these patie...
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Veröffentlicht in: | Clinical genetics 2009-03, Vol.75 (3), p.277-281 |
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creator | Gonzalez-Merino, E Zengbe, V Vannin, AS Place, I Bostan, A Emiliani, S Liesnard, C Goffard, JC Abramowicz, M Englert, Y |
description | Since 1999, the Erasme Hospital Fertility Clinic has carried a special programme for patients with HIV seropositivity. The philosophy of the programme is to give access to these patients in a secure environment to the same technological facilities available to any other patients. Many of these patients being native from sub‐Saharan countries, they are often sickle cell disease (SCD) carriers, a common autosomal recessive disorder in these regions, and a severe affection in homozygotes. We hereby report, for the first time, the birth of a healthy sickle haemoglobin (HbS) heterozygous baby after preimplantation genetic diagnosis (PGD) for SCD in an HIV‐serodiscordant couple of HbS mutation carriers with longstanding infertility. The prospective mother was 35 years old and HIV positive with an undetectable viral load under highly active antiretroviral therapy. One carrier embryo was transferred and resulted in the birth of a healthy HbS carrier baby girl. Despite stimulation difficulties, sometimes described in HIV patients, PGD represents an interesting additional technology, especially in populations where the coexistence of both diseases is frequent. PGD could even be preferred to prenatal diagnosis for couples of HbS carriers if the woman is HIV positive, as invasive prenatal samplings carry a risk of materno‐foetal viral transmission. |
doi_str_mv | 10.1111/j.1399-0004.2008.01119.x |
format | Article |
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The philosophy of the programme is to give access to these patients in a secure environment to the same technological facilities available to any other patients. Many of these patients being native from sub‐Saharan countries, they are often sickle cell disease (SCD) carriers, a common autosomal recessive disorder in these regions, and a severe affection in homozygotes. We hereby report, for the first time, the birth of a healthy sickle haemoglobin (HbS) heterozygous baby after preimplantation genetic diagnosis (PGD) for SCD in an HIV‐serodiscordant couple of HbS mutation carriers with longstanding infertility. The prospective mother was 35 years old and HIV positive with an undetectable viral load under highly active antiretroviral therapy. One carrier embryo was transferred and resulted in the birth of a healthy HbS carrier baby girl. Despite stimulation difficulties, sometimes described in HIV patients, PGD represents an interesting additional technology, especially in populations where the coexistence of both diseases is frequent. PGD could even be preferred to prenatal diagnosis for couples of HbS carriers if the woman is HIV positive, as invasive prenatal samplings carry a risk of materno‐foetal viral transmission.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2008.01119.x</identifier><identifier>PMID: 19054017</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adult ; Anemia, Sickle Cell - complications ; Anemia, Sickle Cell - diagnosis ; Anemia, Sickle Cell - genetics ; Anemias. 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Biological and molecular evolution ; Hematologic and hematopoietic diseases ; Hemoglobin, Sickle - genetics ; HIV ; HIV Seropositivity - complications ; Human immunodeficiency virus ; Humans ; Male ; Medical genetics ; Medical sciences ; Medical screening ; Molecular and cellular biology ; Pregnancy ; Preimplantation Diagnosis ; preimplantation genetic diagnosis ; Reproductive technologies ; serodiscordant couple ; Sickle cell disease</subject><ispartof>Clinical genetics, 2009-03, Vol.75 (3), p.277-281</ispartof><rights>2008 The Authors Journal compilation © 2008 Blackwell Munksgaard</rights><rights>2009 INIST-CNRS</rights><rights>Journal compilation © 2008 Blackwell Munksgaard</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5249-5f3e19d35b83d4aab2acc4e44b3d9176981e88d50c648fbe2197f7d10149db1b3</citedby><cites>FETCH-LOGICAL-c5249-5f3e19d35b83d4aab2acc4e44b3d9176981e88d50c648fbe2197f7d10149db1b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1399-0004.2008.01119.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.2008.01119.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21140361$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19054017$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gonzalez-Merino, E</creatorcontrib><creatorcontrib>Zengbe, V</creatorcontrib><creatorcontrib>Vannin, AS</creatorcontrib><creatorcontrib>Place, I</creatorcontrib><creatorcontrib>Bostan, A</creatorcontrib><creatorcontrib>Emiliani, S</creatorcontrib><creatorcontrib>Liesnard, C</creatorcontrib><creatorcontrib>Goffard, JC</creatorcontrib><creatorcontrib>Abramowicz, M</creatorcontrib><creatorcontrib>Englert, Y</creatorcontrib><title>Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Since 1999, the Erasme Hospital Fertility Clinic has carried a special programme for patients with HIV seropositivity. The philosophy of the programme is to give access to these patients in a secure environment to the same technological facilities available to any other patients. Many of these patients being native from sub‐Saharan countries, they are often sickle cell disease (SCD) carriers, a common autosomal recessive disorder in these regions, and a severe affection in homozygotes. We hereby report, for the first time, the birth of a healthy sickle haemoglobin (HbS) heterozygous baby after preimplantation genetic diagnosis (PGD) for SCD in an HIV‐serodiscordant couple of HbS mutation carriers with longstanding infertility. The prospective mother was 35 years old and HIV positive with an undetectable viral load under highly active antiretroviral therapy. One carrier embryo was transferred and resulted in the birth of a healthy HbS carrier baby girl. Despite stimulation difficulties, sometimes described in HIV patients, PGD represents an interesting additional technology, especially in populations where the coexistence of both diseases is frequent. PGD could even be preferred to prenatal diagnosis for couples of HbS carriers if the woman is HIV positive, as invasive prenatal samplings carry a risk of materno‐foetal viral transmission.</description><subject>Adult</subject><subject>Anemia, Sickle Cell - complications</subject><subject>Anemia, Sickle Cell - diagnosis</subject><subject>Anemia, Sickle Cell - genetics</subject><subject>Anemias. Hemoglobinopathies</subject><subject>assisted reproductive technology</subject><subject>Biological and medical sciences</subject><subject>Diseases of red blood cells</subject><subject>Embryo, Mammalian - metabolism</subject><subject>Embryos</subject><subject>Family Characteristics</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic disorders</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hemoglobin, Sickle - genetics</subject><subject>HIV</subject><subject>HIV Seropositivity - complications</subject><subject>Human immunodeficiency virus</subject><subject>Humans</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Medical screening</subject><subject>Molecular and cellular biology</subject><subject>Pregnancy</subject><subject>Preimplantation Diagnosis</subject><subject>preimplantation genetic diagnosis</subject><subject>Reproductive technologies</subject><subject>serodiscordant couple</subject><subject>Sickle cell disease</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNksFu1DAQhiMEokvhFZCFBLcEO3YSG4kDWpVtRQUcClRcLMeZVN4mcfAkYnvg3XHY1SJxob6MZ_z9oxn9ThLCaMbieb3NGFcqpZSKLKdUZjRWVbZ7kKyODw-TVQwqVazkJ8kTxG1MeVWox8kJU7QQlFWr5NfnAK4fOzNMZnJ-IDcwwOQsaZy5GTw6JG4gZiDnF19ThOAbh9aHJvLE-nnsgFgTgoNAWh8IOnu7lKDrYgcEg_CGdIDoByRt8D0xkUcgAUYfpqfJo9Z0CM8O8TT58v7san2eXn7aXKzfXaa2yIVKi5YDUw0vaskbYUydG2sFCFHzRrGqVJKBlE1BbSlkW0POVNVWDaNMqKZmNT9NXu37jsH_mAEn3cc14pBmAD-jLktV8aLK_wvmVNCC3QukRU6ViuCLf8Ctn8MQt12YUkrBiwjJPWSDRwzQ6jG43oQ7zaheHNdbvRirF2MXndR_HNe7KH1-6D_XPTR_hQeLI_DyABi0pmuDGazDI5czJigvWeTe7rmfroO7ew-g15uz5Rb16V7vcILdUW_CrS6r-O_0t48b_aEq8-vvV0pf899UItX2</recordid><startdate>200903</startdate><enddate>200903</enddate><creator>Gonzalez-Merino, E</creator><creator>Zengbe, V</creator><creator>Vannin, AS</creator><creator>Place, I</creator><creator>Bostan, A</creator><creator>Emiliani, S</creator><creator>Liesnard, C</creator><creator>Goffard, JC</creator><creator>Abramowicz, M</creator><creator>Englert, Y</creator><general>Blackwell Publishing Ltd</general><general>Wiley-Blackwell</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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7T7</scope><scope>7U9</scope><scope>C1K</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>200903</creationdate><title>Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report</title><author>Gonzalez-Merino, E ; Zengbe, V ; Vannin, AS ; Place, I ; Bostan, A ; Emiliani, S ; Liesnard, C ; Goffard, JC ; Abramowicz, M ; Englert, Y</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5249-5f3e19d35b83d4aab2acc4e44b3d9176981e88d50c648fbe2197f7d10149db1b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>Anemia, Sickle Cell - complications</topic><topic>Anemia, Sickle Cell - diagnosis</topic><topic>Anemia, Sickle Cell - genetics</topic><topic>Anemias. Hemoglobinopathies</topic><topic>assisted reproductive technology</topic><topic>Biological and medical sciences</topic><topic>Diseases of red blood cells</topic><topic>Embryo, Mammalian - metabolism</topic><topic>Embryos</topic><topic>Family Characteristics</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic disorders</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hemoglobin, Sickle - genetics</topic><topic>HIV</topic><topic>HIV Seropositivity - complications</topic><topic>Human immunodeficiency virus</topic><topic>Humans</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Medical screening</topic><topic>Molecular and cellular biology</topic><topic>Pregnancy</topic><topic>Preimplantation Diagnosis</topic><topic>preimplantation genetic diagnosis</topic><topic>Reproductive technologies</topic><topic>serodiscordant couple</topic><topic>Sickle cell disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gonzalez-Merino, E</creatorcontrib><creatorcontrib>Zengbe, V</creatorcontrib><creatorcontrib>Vannin, AS</creatorcontrib><creatorcontrib>Place, I</creatorcontrib><creatorcontrib>Bostan, A</creatorcontrib><creatorcontrib>Emiliani, S</creatorcontrib><creatorcontrib>Liesnard, C</creatorcontrib><creatorcontrib>Goffard, JC</creatorcontrib><creatorcontrib>Abramowicz, M</creatorcontrib><creatorcontrib>Englert, Y</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>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Virology and AIDS Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gonzalez-Merino, E</au><au>Zengbe, V</au><au>Vannin, AS</au><au>Place, I</au><au>Bostan, A</au><au>Emiliani, S</au><au>Liesnard, C</au><au>Goffard, JC</au><au>Abramowicz, M</au><au>Englert, Y</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2009-03</date><risdate>2009</risdate><volume>75</volume><issue>3</issue><spage>277</spage><epage>281</epage><pages>277-281</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Since 1999, the Erasme Hospital Fertility Clinic has carried a special programme for patients with HIV seropositivity. The philosophy of the programme is to give access to these patients in a secure environment to the same technological facilities available to any other patients. Many of these patients being native from sub‐Saharan countries, they are often sickle cell disease (SCD) carriers, a common autosomal recessive disorder in these regions, and a severe affection in homozygotes. We hereby report, for the first time, the birth of a healthy sickle haemoglobin (HbS) heterozygous baby after preimplantation genetic diagnosis (PGD) for SCD in an HIV‐serodiscordant couple of HbS mutation carriers with longstanding infertility. The prospective mother was 35 years old and HIV positive with an undetectable viral load under highly active antiretroviral therapy. One carrier embryo was transferred and resulted in the birth of a healthy HbS carrier baby girl. Despite stimulation difficulties, sometimes described in HIV patients, PGD represents an interesting additional technology, especially in populations where the coexistence of both diseases is frequent. PGD could even be preferred to prenatal diagnosis for couples of HbS carriers if the woman is HIV positive, as invasive prenatal samplings carry a risk of materno‐foetal viral transmission.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>19054017</pmid><doi>10.1111/j.1399-0004.2008.01119.x</doi><tpages>5</tpages></addata></record> |
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subjects | Adult Anemia, Sickle Cell - complications Anemia, Sickle Cell - diagnosis Anemia, Sickle Cell - genetics Anemias. Hemoglobinopathies assisted reproductive technology Biological and medical sciences Diseases of red blood cells Embryo, Mammalian - metabolism Embryos Family Characteristics Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Hematologic and hematopoietic diseases Hemoglobin, Sickle - genetics HIV HIV Seropositivity - complications Human immunodeficiency virus Humans Male Medical genetics Medical sciences Medical screening Molecular and cellular biology Pregnancy Preimplantation Diagnosis preimplantation genetic diagnosis Reproductive technologies serodiscordant couple Sickle cell disease |
title | Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report |
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