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Article: Prenatal diagnosis of common single gene disorders by DNA technology

TitlePrenatal diagnosis of common single gene disorders by DNA technology
Authors
KeywordsPrenatal diagnosis
Carrier testing
Genetic screening
Heterozygote detection
Issue Date1997
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org.hk
Citation
Hong Kong Medical Journal, 1997, v. 3 n. 2, p. 173-178 How to Cite?
AbstractUsing the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained y chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at 18 weeks. The programme in Hong Kong, which started in 1982, is reviewed here and now included alpha and beta thalassaemia, haemophilia A and B, Duchenne muscular dystrophy, Huntington's diseases, and spinal muscular atrophy. DNA diagnosis can now be performed using a single cell obtained from pre-implantation embryos or from rare foetal cells isolated from maternal peripheral blood. The latter is safer and more acceptable to parents. Presymptomatic testing for untreatable diseases such as Hungtington's disease poses new ethical and social problems that need to be resolved. As many more genes are being discovered, prenatal diagnosis and presymptomatic testing programmes will continue to meet new challenges in the future.
Persistent Identifierhttp://hdl.handle.net/10722/45059
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279

 

DC FieldValueLanguage
dc.contributor.authorChan, VNYen_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2007-10-30T06:16:35Z-
dc.date.available2007-10-30T06:16:35Z-
dc.date.issued1997en_HK
dc.identifier.citationHong Kong Medical Journal, 1997, v. 3 n. 2, p. 173-178en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45059-
dc.description.abstractUsing the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained y chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at 18 weeks. The programme in Hong Kong, which started in 1982, is reviewed here and now included alpha and beta thalassaemia, haemophilia A and B, Duchenne muscular dystrophy, Huntington's diseases, and spinal muscular atrophy. DNA diagnosis can now be performed using a single cell obtained from pre-implantation embryos or from rare foetal cells isolated from maternal peripheral blood. The latter is safer and more acceptable to parents. Presymptomatic testing for untreatable diseases such as Hungtington's disease poses new ethical and social problems that need to be resolved. As many more genes are being discovered, prenatal diagnosis and presymptomatic testing programmes will continue to meet new challenges in the future.en_HK
dc.format.extent388601 bytes-
dc.format.extent517067 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/pdf-
dc.languageengen_HK
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org.hken_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectPrenatal diagnosisen_HK
dc.subjectCarrier testingen_HK
dc.subjectGenetic screeningen_HK
dc.subjectHeterozygote detectionen_HK
dc.titlePrenatal diagnosis of common single gene disorders by DNA technologyen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=3&issue=2&spage=173&epage=178&date=1997&atitle=Prenatal+diagnosis+of+common+single+gene+disorders+by+DNA+technologyen_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid11850568en_HK
dc.identifier.hkuros37185-

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