Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles
We report the fi rst successful preimplantation genetic diagnosis (PGD) for Hb Bart's hydrops fetalis in Singapore, involving both fresh and frozen embryo replacement cycles. Two couples who were carriers of the Southeast Asian type double gene deletion (--(SEA) deletion carriers) requested for...
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Veröffentlicht in: | Annals of the Academy of Medicine, Singapore Singapore, 2009-10, Vol.38 (10), p.910-913 |
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creator | Yap, Christine Wang, Wen Tan, Arnold S C Tan, Wei Chin Lim, Mui Nee Chong, Samuel S |
description | We report the fi rst successful preimplantation genetic diagnosis (PGD) for Hb Bart's hydrops fetalis in Singapore, involving both fresh and frozen embryo replacement cycles.
Two couples who were carriers of the Southeast Asian type double gene deletion (--(SEA) deletion carriers) requested for PGD. Couple A had 2 previous affected pregnancies, while couple B have a child of unknown genotypic status.
One PGD cycle was performed for each couple. The --(SEA) deletion was detected using a gap-PCR strategy. Couple A had 1 fresh-embryo replacement cycle while couple B underwent 2 frozen-embryo replacement cycles.
Couple A achieved a twin pregnancy. Second trimester complications resulted in premature delivery, where 1 baby girl survived. Couple B achieved a singleton pregnancy resulting in delivery of a healthy baby boy. Genotype analysis of all babies confirmed the PGD results consistent with clinically unaffected status.
We have successfully performed PGD to avoid Hb Bart's hydrops fetalis syndrome. |
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Two couples who were carriers of the Southeast Asian type double gene deletion (--(SEA) deletion carriers) requested for PGD. Couple A had 2 previous affected pregnancies, while couple B have a child of unknown genotypic status.
One PGD cycle was performed for each couple. The --(SEA) deletion was detected using a gap-PCR strategy. Couple A had 1 fresh-embryo replacement cycle while couple B underwent 2 frozen-embryo replacement cycles.
Couple A achieved a twin pregnancy. Second trimester complications resulted in premature delivery, where 1 baby girl survived. Couple B achieved a singleton pregnancy resulting in delivery of a healthy baby boy. Genotype analysis of all babies confirmed the PGD results consistent with clinically unaffected status.
We have successfully performed PGD to avoid Hb Bart's hydrops fetalis syndrome.</description><identifier>ISSN: 0304-4602</identifier><identifier>PMID: 19890585</identifier><language>eng</language><publisher>Singapore</publisher><subject>Adult ; alpha-Globins - genetics ; Embryo Transfer ; Female ; Genetic Carrier Screening ; Genetic Testing ; Hemoglobins, Abnormal ; Humans ; Hydrops Fetalis - diagnosis ; Hydrops Fetalis - genetics ; Hydrops Fetalis - prevention & control ; Male ; Minisatellite Repeats - genetics ; Ovulation Induction - methods ; Polymerase Chain Reaction ; Pregnancy ; Pregnancy Complications, Hematologic - diagnosis ; Pregnancy Complications, Hematologic - genetics ; Pregnancy Complications, Hematologic - prevention & control ; Preimplantation Diagnosis ; Singapore ; Sperm Injections, Intracytoplasmic</subject><ispartof>Annals of the Academy of Medicine, Singapore, 2009-10, Vol.38 (10), p.910-913</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,778,782</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19890585$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yap, Christine</creatorcontrib><creatorcontrib>Wang, Wen</creatorcontrib><creatorcontrib>Tan, Arnold S C</creatorcontrib><creatorcontrib>Tan, Wei Chin</creatorcontrib><creatorcontrib>Lim, Mui Nee</creatorcontrib><creatorcontrib>Chong, Samuel S</creatorcontrib><title>Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles</title><title>Annals of the Academy of Medicine, Singapore</title><addtitle>Ann Acad Med Singapore</addtitle><description>We report the fi rst successful preimplantation genetic diagnosis (PGD) for Hb Bart's hydrops fetalis in Singapore, involving both fresh and frozen embryo replacement cycles.
Two couples who were carriers of the Southeast Asian type double gene deletion (--(SEA) deletion carriers) requested for PGD. Couple A had 2 previous affected pregnancies, while couple B have a child of unknown genotypic status.
One PGD cycle was performed for each couple. The --(SEA) deletion was detected using a gap-PCR strategy. Couple A had 1 fresh-embryo replacement cycle while couple B underwent 2 frozen-embryo replacement cycles.
Couple A achieved a twin pregnancy. Second trimester complications resulted in premature delivery, where 1 baby girl survived. Couple B achieved a singleton pregnancy resulting in delivery of a healthy baby boy. Genotype analysis of all babies confirmed the PGD results consistent with clinically unaffected status.
We have successfully performed PGD to avoid Hb Bart's hydrops fetalis syndrome.</description><subject>Adult</subject><subject>alpha-Globins - genetics</subject><subject>Embryo Transfer</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Genetic Testing</subject><subject>Hemoglobins, Abnormal</subject><subject>Humans</subject><subject>Hydrops Fetalis - diagnosis</subject><subject>Hydrops Fetalis - genetics</subject><subject>Hydrops Fetalis - prevention & control</subject><subject>Male</subject><subject>Minisatellite Repeats - genetics</subject><subject>Ovulation Induction - methods</subject><subject>Polymerase Chain Reaction</subject><subject>Pregnancy</subject><subject>Pregnancy Complications, Hematologic - diagnosis</subject><subject>Pregnancy Complications, Hematologic - genetics</subject><subject>Pregnancy Complications, Hematologic - prevention & control</subject><subject>Preimplantation Diagnosis</subject><subject>Singapore</subject><subject>Sperm Injections, Intracytoplasmic</subject><issn>0304-4602</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1UM1OwzAYywHExuAV0HfbqVLSpH9HmIAhTeIwOFdp8mULapOSpIfyArw2lYCTLdmyZV-QNeVUZKKk-Ypcx_hBqahoXl6RFWvqhhZ1sSbfx0kpjNFMPYwB7TD20iWZrHdwQofJKtBWnpyPNoI3sO_gQYa0jXCedfBjBINJ9otoHRytO8nRBwRpEgYwAeMZpNML81_oAIcuzB4CLjUKB3QJ1Kx6jDfk0sg-4u0fbsj70-Pbbp8dXp9fdveHbMwZTRmrmtJQoXWNPBeyMkiRSSWMpkpgU-laFTxnZcE6JXjNtanLZavWVDDGOso3ZPubOwb_OWFM7WCjwn5ZjX6KbcUFywWjYnHe_TmnbkDdjsEOMszt_3f8Bz4VbJk</recordid><startdate>20091001</startdate><enddate>20091001</enddate><creator>Yap, Christine</creator><creator>Wang, Wen</creator><creator>Tan, Arnold S C</creator><creator>Tan, Wei Chin</creator><creator>Lim, Mui Nee</creator><creator>Chong, Samuel S</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20091001</creationdate><title>Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles</title><author>Yap, Christine ; Wang, Wen ; Tan, Arnold S C ; Tan, Wei Chin ; Lim, Mui Nee ; Chong, Samuel S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p210t-1796f04dd8e324a7fe0e1ac4fd0c4e97d8c5321651bc4383df86989dd04111b03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>alpha-Globins - genetics</topic><topic>Embryo Transfer</topic><topic>Female</topic><topic>Genetic Carrier Screening</topic><topic>Genetic Testing</topic><topic>Hemoglobins, Abnormal</topic><topic>Humans</topic><topic>Hydrops Fetalis - diagnosis</topic><topic>Hydrops Fetalis - genetics</topic><topic>Hydrops Fetalis - prevention & control</topic><topic>Male</topic><topic>Minisatellite Repeats - genetics</topic><topic>Ovulation Induction - methods</topic><topic>Polymerase Chain Reaction</topic><topic>Pregnancy</topic><topic>Pregnancy Complications, Hematologic - diagnosis</topic><topic>Pregnancy Complications, Hematologic - genetics</topic><topic>Pregnancy Complications, Hematologic - prevention & control</topic><topic>Preimplantation Diagnosis</topic><topic>Singapore</topic><topic>Sperm Injections, Intracytoplasmic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yap, Christine</creatorcontrib><creatorcontrib>Wang, Wen</creatorcontrib><creatorcontrib>Tan, Arnold S C</creatorcontrib><creatorcontrib>Tan, Wei Chin</creatorcontrib><creatorcontrib>Lim, Mui Nee</creatorcontrib><creatorcontrib>Chong, Samuel S</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of the Academy of Medicine, Singapore</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yap, Christine</au><au>Wang, Wen</au><au>Tan, Arnold S C</au><au>Tan, Wei Chin</au><au>Lim, Mui Nee</au><au>Chong, Samuel S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles</atitle><jtitle>Annals of the Academy of Medicine, Singapore</jtitle><addtitle>Ann Acad Med Singapore</addtitle><date>2009-10-01</date><risdate>2009</risdate><volume>38</volume><issue>10</issue><spage>910</spage><epage>913</epage><pages>910-913</pages><issn>0304-4602</issn><abstract>We report the fi rst successful preimplantation genetic diagnosis (PGD) for Hb Bart's hydrops fetalis in Singapore, involving both fresh and frozen embryo replacement cycles.
Two couples who were carriers of the Southeast Asian type double gene deletion (--(SEA) deletion carriers) requested for PGD. Couple A had 2 previous affected pregnancies, while couple B have a child of unknown genotypic status.
One PGD cycle was performed for each couple. The --(SEA) deletion was detected using a gap-PCR strategy. Couple A had 1 fresh-embryo replacement cycle while couple B underwent 2 frozen-embryo replacement cycles.
Couple A achieved a twin pregnancy. Second trimester complications resulted in premature delivery, where 1 baby girl survived. Couple B achieved a singleton pregnancy resulting in delivery of a healthy baby boy. Genotype analysis of all babies confirmed the PGD results consistent with clinically unaffected status.
We have successfully performed PGD to avoid Hb Bart's hydrops fetalis syndrome.</abstract><cop>Singapore</cop><pmid>19890585</pmid><tpages>4</tpages></addata></record> |
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source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
subjects | Adult alpha-Globins - genetics Embryo Transfer Female Genetic Carrier Screening Genetic Testing Hemoglobins, Abnormal Humans Hydrops Fetalis - diagnosis Hydrops Fetalis - genetics Hydrops Fetalis - prevention & control Male Minisatellite Repeats - genetics Ovulation Induction - methods Polymerase Chain Reaction Pregnancy Pregnancy Complications, Hematologic - diagnosis Pregnancy Complications, Hematologic - genetics Pregnancy Complications, Hematologic - prevention & control Preimplantation Diagnosis Singapore Sperm Injections, Intracytoplasmic |
title | Successful preimplantation genetic diagnosis of Hb Bart's hydrops fetalis in Singapore after fresh and frozen embryo replacement cycles |
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