Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation
Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectuall...
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Veröffentlicht in: | Prenatal diagnosis 1994-06, Vol.14 (6), p.469-474 |
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creator | Strain, Lisa Porteous, Mary E. M. Gosden, Christine M. Ellis, Patricia M. Neilson, James P. Bonthron, David T. |
description | Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers. |
doi_str_mv | 10.1002/pd.1970140610 |
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M. ; Gosden, Christine M. ; Ellis, Patricia M. ; Neilson, James P. ; Bonthron, David T.</creator><creatorcontrib>Strain, Lisa ; Porteous, Mary E. M. ; Gosden, Christine M. ; Ellis, Patricia M. ; Neilson, James P. ; Bonthron, David T.</creatorcontrib><description>Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.1970140610</identifier><identifier>PMID: 7937584</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Biological and medical sciences ; Birth control ; Blotting, Southern ; carriers ; chorion villus ; Chorionic Villi Sampling ; DNA - analysis ; Female ; Fetal Blood - chemistry ; fetal blood sampling ; Fragile X ; fragile X syndrome ; Fragile X Syndrome - diagnosis ; Fragile X Syndrome - genetics ; Gynecology. Andrology. Obstetrics ; Humans ; Male ; man ; Medical sciences ; mutation ; PCR ; Pedigree ; Polymerase Chain Reaction ; Pregnancy ; premutation ; Prenatal Diagnosis ; sampling ; Southern blotting ; Sterility. Assisted procreation ; unstable DNA</subject><ispartof>Prenatal diagnosis, 1994-06, Vol.14 (6), p.469-474</ispartof><rights>Copyright © 1994 John Wiley & Sons, Ltd.</rights><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4340-7e888d93468190a7421db6f1884ceead94013ce0488206a0548629ebe4922f4f3</citedby><cites>FETCH-LOGICAL-c4340-7e888d93468190a7421db6f1884ceead94013ce0488206a0548629ebe4922f4f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.1970140610$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.1970140610$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4170254$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7937584$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Strain, Lisa</creatorcontrib><creatorcontrib>Porteous, Mary E. M.</creatorcontrib><creatorcontrib>Gosden, Christine M.</creatorcontrib><creatorcontrib>Ellis, Patricia M.</creatorcontrib><creatorcontrib>Neilson, James P.</creatorcontrib><creatorcontrib>Bonthron, David T.</creatorcontrib><title>Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Blotting, Southern</subject><subject>carriers</subject><subject>chorion villus</subject><subject>Chorionic Villi Sampling</subject><subject>DNA - analysis</subject><subject>Female</subject><subject>Fetal Blood - chemistry</subject><subject>fetal blood sampling</subject><subject>Fragile X</subject><subject>fragile X syndrome</subject><subject>Fragile X Syndrome - diagnosis</subject><subject>Fragile X Syndrome - genetics</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>mutation</subject><subject>PCR</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Pregnancy</subject><subject>premutation</subject><subject>Prenatal Diagnosis</subject><subject>sampling</subject><subject>Southern blotting</subject><subject>Sterility. Assisted procreation</subject><subject>unstable DNA</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0LtvFDEQBnALgcIlUFIiuUDpNowf5wcdSkhAOSASIEJl-XZnLwv7wvYq3H-PT7c6RAOVi-8349FHyDMGZwyAvxyrM2Y1MAmKwQOyYGB1AZyLh2QBOSmEWbLH5DjG75kbbvUROdJW6KWRC_LtJmDvk29p1fhNP8Qm0qGmdfCbpkV6S-O2r8LQ4Sv63vd-gx32aSfSHdLOZ1JjmiK9b9Id9XQM2E3Jp2bon5BHtW8jPp3fE_Ll8s3n87fF6uPVu_PXq6KUQkKh0RhTWSGVYRa8lpxVa1UzY2SJ6CsrgYkSQRrDQXlYSqO4xTVKy3kta3FCTvd7xzD8nDAm1zWxxLb1PQ5TdFppY0CY_0KmLGijbIbFHpZhiDFg7cbQdD5sHQO369yNlfvTefbP58XTusPqoOeSc_5izn0sfZu77csmHphkGvhyx_Se3efmt__-091c_HXAfHATE_46TPrwwymdb3BfP1y5ixW_vv0E146L3-5cpqo</recordid><startdate>199406</startdate><enddate>199406</enddate><creator>Strain, Lisa</creator><creator>Porteous, Mary E. 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M. ; Gosden, Christine M. ; Ellis, Patricia M. ; Neilson, James P. ; Bonthron, David T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4340-7e888d93468190a7421db6f1884ceead94013ce0488206a0548629ebe4922f4f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Birth control</topic><topic>Blotting, Southern</topic><topic>carriers</topic><topic>chorion villus</topic><topic>Chorionic Villi Sampling</topic><topic>DNA - analysis</topic><topic>Female</topic><topic>Fetal Blood - chemistry</topic><topic>fetal blood sampling</topic><topic>Fragile X</topic><topic>fragile X syndrome</topic><topic>Fragile X Syndrome - diagnosis</topic><topic>Fragile X Syndrome - genetics</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>mutation</topic><topic>PCR</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Pregnancy</topic><topic>premutation</topic><topic>Prenatal Diagnosis</topic><topic>sampling</topic><topic>Southern blotting</topic><topic>Sterility. Assisted procreation</topic><topic>unstable DNA</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Strain, Lisa</creatorcontrib><creatorcontrib>Porteous, Mary E. M.</creatorcontrib><creatorcontrib>Gosden, Christine M.</creatorcontrib><creatorcontrib>Ellis, Patricia M.</creatorcontrib><creatorcontrib>Neilson, James P.</creatorcontrib><creatorcontrib>Bonthron, David T.</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>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Strain, Lisa</au><au>Porteous, Mary E. M.</au><au>Gosden, Christine M.</au><au>Ellis, Patricia M.</au><au>Neilson, James P.</au><au>Bonthron, David T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1994-06</date><risdate>1994</risdate><volume>14</volume><issue>6</issue><spage>469</spage><epage>474</epage><pages>469-474</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>7937584</pmid><doi>10.1002/pd.1970140610</doi><tpages>6</tpages></addata></record> |
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subjects | Adult Biological and medical sciences Birth control Blotting, Southern carriers chorion villus Chorionic Villi Sampling DNA - analysis Female Fetal Blood - chemistry fetal blood sampling Fragile X fragile X syndrome Fragile X Syndrome - diagnosis Fragile X Syndrome - genetics Gynecology. Andrology. Obstetrics Humans Male man Medical sciences mutation PCR Pedigree Polymerase Chain Reaction Pregnancy premutation Prenatal Diagnosis sampling Southern blotting Sterility. Assisted procreation unstable DNA |
title | Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation |
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