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Article: Experience in preimplantation genetic diagnosis for exclusion of homozygous α° thalassemia

TitleExperience in preimplantation genetic diagnosis for exclusion of homozygous α° thalassemia
Authors
Issue Date2006
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 2006, v. 26 n. 11, p. 1029-1036 How to Cite?
AbstractObjective: To report our experience in preimplantation genetic diagnosis (PGD) for the exclusion of homozygous α° thalassemia. Patients and Methods: PGD was performed on nine couples with α° thalassemia genotype undergoing assisted reproduction. Oocytes were aspirated after ovarian stimulation and fertilized by intracytoplasmic sperm injection. One or two blastomeres were biopsied from the six- to eight-cell embryo. Single cell multiplex PCR of the normal and α° thalassemia alleles was performed for first round, followed by semi-nested PCR of the respective alleles using 5′-end labelled fluorescent primers. Only those embryos with a blastomere diagnosed as having at least one normal allele were selected for transfer. Results: One hundred and twenty-six blastomeres from 82 embryos were analyzed. The rates of allele dropout was 10.2% and PCR failure 12.7%. Fifty-eight embryos (70.7%) had at least one normal allele, of which 31 were transferred to 13 prepared cycles and one triplet pregnancy achieved. The triplets showed no ultrasound features of homozygous α° thalassemia at 18 weeks and were delivered in healthy condition by caesarean section at 34 weeks. Their genotypes were confirmed by cord blood analysis. Conclusions: PGD for α° thalassemia is possible by single cell PCR. The transfer and successful implantation of unaffected embryos ensure birth of disease-free babies. Copyright © 2006 John Wiley & Sons, Ltd.
Persistent Identifierhttp://hdl.handle.net/10722/163048
ISSN
2015 Impact Factor: 3.043
2015 SCImago Journal Rankings: 1.450
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_US
dc.contributor.authorNg, EHYen_US
dc.contributor.authorYam, Ien_US
dc.contributor.authorYeung, WSBen_US
dc.contributor.authorHo, PCen_US
dc.contributor.authorChan, TKen_US
dc.date.accessioned2012-09-05T05:26:57Z-
dc.date.available2012-09-05T05:26:57Z-
dc.date.issued2006en_US
dc.identifier.citationPrenatal Diagnosis, 2006, v. 26 n. 11, p. 1029-1036en_US
dc.identifier.issn0197-3851en_US
dc.identifier.urihttp://hdl.handle.net/10722/163048-
dc.description.abstractObjective: To report our experience in preimplantation genetic diagnosis (PGD) for the exclusion of homozygous α° thalassemia. Patients and Methods: PGD was performed on nine couples with α° thalassemia genotype undergoing assisted reproduction. Oocytes were aspirated after ovarian stimulation and fertilized by intracytoplasmic sperm injection. One or two blastomeres were biopsied from the six- to eight-cell embryo. Single cell multiplex PCR of the normal and α° thalassemia alleles was performed for first round, followed by semi-nested PCR of the respective alleles using 5′-end labelled fluorescent primers. Only those embryos with a blastomere diagnosed as having at least one normal allele were selected for transfer. Results: One hundred and twenty-six blastomeres from 82 embryos were analyzed. The rates of allele dropout was 10.2% and PCR failure 12.7%. Fifty-eight embryos (70.7%) had at least one normal allele, of which 31 were transferred to 13 prepared cycles and one triplet pregnancy achieved. The triplets showed no ultrasound features of homozygous α° thalassemia at 18 weeks and were delivered in healthy condition by caesarean section at 34 weeks. Their genotypes were confirmed by cord blood analysis. Conclusions: PGD for α° thalassemia is possible by single cell PCR. The transfer and successful implantation of unaffected embryos ensure birth of disease-free babies. Copyright © 2006 John Wiley & Sons, Ltd.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252en_US
dc.relation.ispartofPrenatal Diagnosisen_US
dc.rightsPrenatal Diagnosis. Copyright © John Wiley & Sons Ltd.-
dc.subject.meshAllelesen_US
dc.subject.meshBlastomeresen_US
dc.subject.meshFemaleen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMutationen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPregnancy Outcomeen_US
dc.subject.meshPreimplantation Diagnosis - Methodsen_US
dc.subject.meshReproductive Techniques, Assisteden_US
dc.subject.meshAlpha-Thalassemia - Diagnosis - Embryology - Geneticsen_US
dc.titleExperience in preimplantation genetic diagnosis for exclusion of homozygous α° thalassemiaen_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.emailNg, EHY:nghye@hkucc.hku.hken_US
dc.identifier.emailYeung, WSB:wsbyeung@hkucc.hku.hken_US
dc.identifier.emailHo, PC:pcho@hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.identifier.authorityNg, EHY=rp00426en_US
dc.identifier.authorityYeung, WSB=rp00331en_US
dc.identifier.authorityHo, PC=rp00325en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/pd.1550en_US
dc.identifier.pmid16941716-
dc.identifier.scopuseid_2-s2.0-33751345813en_US
dc.identifier.hkuros121328-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33751345813&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume26en_US
dc.identifier.issue11en_US
dc.identifier.spage1029en_US
dc.identifier.epage1036en_US
dc.identifier.isiWOS:000242251300006-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridNg, EHY=35238184300en_US
dc.identifier.scopusauthoridYam, I=6603358817en_US
dc.identifier.scopusauthoridYeung, WSB=7102370745en_US
dc.identifier.scopusauthoridHo, PC=7402211440en_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US

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