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Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers
The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly important when a foetus may be affected by an X‐link...
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| Published in: | Haemophilia : the official journal of the World Federation of Hemophilia 2008-05, Vol.14 (3), p.593-598 |
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| container_end_page | 598 |
| container_issue | 3 |
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| container_title | Haemophilia : the official journal of the World Federation of Hemophilia |
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| creator | BUSTAMANTE-ARAGONES, A. RODRIGUEZ DE ALBA, M. GONZALEZ-GONZALEZ, C. TRUJILLO-TIEBAS, M. J. DIEGO-ALVAREZ, D. VALLESPIN, E. PLAZA, J. AYUSO, C. RAMOS, C. |
| description | The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly important when a foetus may be affected by an X‐linked disorder such as haemophilia. This study aims to validate this sex assessment method and to test its clinical utility in the diagnosis of 15 potentially affected pregnancies in female carriers of haemophilia. In the validation study, 316 maternal blood samples from 196 pregnant women at gestations ranging from 5 weeks to 12 weeks were analysed. In the clinical study, 15 pregnancies at risk of having a haemophilic foetus were tested. All pregnancies in the validation study were correctly diagnosed. The accuracy and specificity of the methodology from the seventh week of gestation was 100%. The sex of all 15 pregnancies identified as being at risk of bearing a haemophilic foetus was correctly diagnosed. Foetal sex assessment by detecting specific Y chromosome sequences in maternal blood is now routinely used in our hospital because of its high accuracy from the seventh week of gestation. Reliable foetal gender determination from maternal blood of pregnant women carriers of haemophilia in the first trimester of gestation can avoid more conventional, invasive methods of prenatal diagnosis. |
| doi_str_mv | 10.1111/j.1365-2516.2008.01670.x |
| format | article |
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J. ; DIEGO-ALVAREZ, D. ; VALLESPIN, E. ; PLAZA, J. ; AYUSO, C. ; RAMOS, C.</creator><creatorcontrib>BUSTAMANTE-ARAGONES, A. ; RODRIGUEZ DE ALBA, M. ; GONZALEZ-GONZALEZ, C. ; TRUJILLO-TIEBAS, M. J. ; DIEGO-ALVAREZ, D. ; VALLESPIN, E. ; PLAZA, J. ; AYUSO, C. ; RAMOS, C.</creatorcontrib><description>The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly important when a foetus may be affected by an X‐linked disorder such as haemophilia. This study aims to validate this sex assessment method and to test its clinical utility in the diagnosis of 15 potentially affected pregnancies in female carriers of haemophilia. In the validation study, 316 maternal blood samples from 196 pregnant women at gestations ranging from 5 weeks to 12 weeks were analysed. In the clinical study, 15 pregnancies at risk of having a haemophilic foetus were tested. All pregnancies in the validation study were correctly diagnosed. The accuracy and specificity of the methodology from the seventh week of gestation was 100%. The sex of all 15 pregnancies identified as being at risk of bearing a haemophilic foetus was correctly diagnosed. Foetal sex assessment by detecting specific Y chromosome sequences in maternal blood is now routinely used in our hospital because of its high accuracy from the seventh week of gestation. Reliable foetal gender determination from maternal blood of pregnant women carriers of haemophilia in the first trimester of gestation can avoid more conventional, invasive methods of prenatal diagnosis.</description><identifier>ISSN: 1351-8216</identifier><identifier>EISSN: 1365-2516</identifier><identifier>DOI: 10.1111/j.1365-2516.2008.01670.x</identifier><identifier>PMID: 18328062</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Chromosomes, Human, Y - genetics ; clinical routine ; DNA - blood ; Female ; Fetal Diseases - diagnosis ; foetal DNA ; Gestational Age ; haemophilia ; Hemophilia A - blood ; Hemophilia A - diagnosis ; Heterozygote ; Humans ; Male ; maternal blood ; noninvasive prenatal diagnosis ; Polymerase Chain Reaction ; Pregnancy ; Pregnancy Trimester, First ; Prenatal Diagnosis - methods ; Sensitivity and Specificity ; Sex Determination Analysis - methods</subject><ispartof>Haemophilia : the official journal of the World Federation of Hemophilia, 2008-05, Vol.14 (3), p.593-598</ispartof><rights>2008 The Authors. Journal compilation © 2008 Blackwell Publishing Ltd</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4050-7b60b9c25a09a68b97172861ea16e25f23da0da676c161f2cfe0976cef0678493</citedby><cites>FETCH-LOGICAL-c4050-7b60b9c25a09a68b97172861ea16e25f23da0da676c161f2cfe0976cef0678493</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.1365-2516.2008.01670.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2516.2008.01670.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,786,790,27957,27958,50923,51032</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18328062$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>BUSTAMANTE-ARAGONES, A.</creatorcontrib><creatorcontrib>RODRIGUEZ DE ALBA, M.</creatorcontrib><creatorcontrib>GONZALEZ-GONZALEZ, C.</creatorcontrib><creatorcontrib>TRUJILLO-TIEBAS, M. J.</creatorcontrib><creatorcontrib>DIEGO-ALVAREZ, D.</creatorcontrib><creatorcontrib>VALLESPIN, E.</creatorcontrib><creatorcontrib>PLAZA, J.</creatorcontrib><creatorcontrib>AYUSO, C.</creatorcontrib><creatorcontrib>RAMOS, C.</creatorcontrib><title>Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers</title><title>Haemophilia : the official journal of the World Federation of Hemophilia</title><addtitle>Haemophilia</addtitle><description>The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly important when a foetus may be affected by an X‐linked disorder such as haemophilia. This study aims to validate this sex assessment method and to test its clinical utility in the diagnosis of 15 potentially affected pregnancies in female carriers of haemophilia. In the validation study, 316 maternal blood samples from 196 pregnant women at gestations ranging from 5 weeks to 12 weeks were analysed. In the clinical study, 15 pregnancies at risk of having a haemophilic foetus were tested. All pregnancies in the validation study were correctly diagnosed. The accuracy and specificity of the methodology from the seventh week of gestation was 100%. The sex of all 15 pregnancies identified as being at risk of bearing a haemophilic foetus was correctly diagnosed. Foetal sex assessment by detecting specific Y chromosome sequences in maternal blood is now routinely used in our hospital because of its high accuracy from the seventh week of gestation. Reliable foetal gender determination from maternal blood of pregnant women carriers of haemophilia in the first trimester of gestation can avoid more conventional, invasive methods of prenatal diagnosis.</description><subject>Chromosomes, Human, Y - genetics</subject><subject>clinical routine</subject><subject>DNA - blood</subject><subject>Female</subject><subject>Fetal Diseases - diagnosis</subject><subject>foetal DNA</subject><subject>Gestational Age</subject><subject>haemophilia</subject><subject>Hemophilia A - blood</subject><subject>Hemophilia A - diagnosis</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Male</subject><subject>maternal blood</subject><subject>noninvasive prenatal diagnosis</subject><subject>Polymerase Chain Reaction</subject><subject>Pregnancy</subject><subject>Pregnancy Trimester, First</subject><subject>Prenatal Diagnosis - methods</subject><subject>Sensitivity and Specificity</subject><subject>Sex Determination Analysis - methods</subject><issn>1351-8216</issn><issn>1365-2516</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><recordid>eNqNkc1u3CAUhVHVqEnTvkLFqju7gGPAiy6iUSapOkqlKFGXCNuXGSY2TMHTTJ4kr1uoR-m2bPi55ztX3IMQpqSkaX3ZlrTidcFqyktGiCwJ5YKUhzfo7LXwNp9rWkhG-Sl6H-OWEFoxwt-hUyorJglnZ-hl6WHSA45wwD1MEEbr9GS9w9bhUacHl6rt4H2PTfAjnjaQxL_BTRv8BPCIvcFriNMMaddjO0Uc_ADZobd67Xy0bo03Gka_29jB6lzJPib13keI2cPAqBPT6RAshPgBnRg9RPh43M_Rw_LqfnFTrH5cf1tcrorugtSkEC0nbdOxWpNGc9k2ggomOQVNObDasKrXpNdc8I5yalhngDTpAoZwIS-a6hx9nn13wf_ap3-o0cYOhkE78PuoeENrUVGRhHIWdsHHGMCoXbCjDs-KEpVDUVuVZ6_y7FUORf0NRR0S-unYY9-O0P8DjykkwddZ8GQHeP5vY3VzeZVPiS9m3sYJDq-8Do-Ki0rU6ufttVp-Z40kq4W6q_4AfWisKg</recordid><startdate>200805</startdate><enddate>200805</enddate><creator>BUSTAMANTE-ARAGONES, A.</creator><creator>RODRIGUEZ DE ALBA, M.</creator><creator>GONZALEZ-GONZALEZ, C.</creator><creator>TRUJILLO-TIEBAS, M. J.</creator><creator>DIEGO-ALVAREZ, D.</creator><creator>VALLESPIN, E.</creator><creator>PLAZA, J.</creator><creator>AYUSO, C.</creator><creator>RAMOS, C.</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</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>7X8</scope></search><sort><creationdate>200805</creationdate><title>Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers</title><author>BUSTAMANTE-ARAGONES, A. ; RODRIGUEZ DE ALBA, M. ; GONZALEZ-GONZALEZ, C. ; TRUJILLO-TIEBAS, M. J. ; DIEGO-ALVAREZ, D. ; VALLESPIN, E. ; PLAZA, J. ; AYUSO, C. ; RAMOS, C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4050-7b60b9c25a09a68b97172861ea16e25f23da0da676c161f2cfe0976cef0678493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Chromosomes, Human, Y - genetics</topic><topic>clinical routine</topic><topic>DNA - blood</topic><topic>Female</topic><topic>Fetal Diseases - diagnosis</topic><topic>foetal DNA</topic><topic>Gestational Age</topic><topic>haemophilia</topic><topic>Hemophilia A - blood</topic><topic>Hemophilia A - diagnosis</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Male</topic><topic>maternal blood</topic><topic>noninvasive prenatal diagnosis</topic><topic>Polymerase Chain Reaction</topic><topic>Pregnancy</topic><topic>Pregnancy Trimester, First</topic><topic>Prenatal Diagnosis - methods</topic><topic>Sensitivity and Specificity</topic><topic>Sex Determination Analysis - methods</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BUSTAMANTE-ARAGONES, A.</creatorcontrib><creatorcontrib>RODRIGUEZ DE ALBA, M.</creatorcontrib><creatorcontrib>GONZALEZ-GONZALEZ, C.</creatorcontrib><creatorcontrib>TRUJILLO-TIEBAS, M. J.</creatorcontrib><creatorcontrib>DIEGO-ALVAREZ, D.</creatorcontrib><creatorcontrib>VALLESPIN, E.</creatorcontrib><creatorcontrib>PLAZA, J.</creatorcontrib><creatorcontrib>AYUSO, C.</creatorcontrib><creatorcontrib>RAMOS, C.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Haemophilia : the official journal of the World Federation of Hemophilia</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BUSTAMANTE-ARAGONES, A.</au><au>RODRIGUEZ DE ALBA, M.</au><au>GONZALEZ-GONZALEZ, C.</au><au>TRUJILLO-TIEBAS, M. J.</au><au>DIEGO-ALVAREZ, D.</au><au>VALLESPIN, E.</au><au>PLAZA, J.</au><au>AYUSO, C.</au><au>RAMOS, C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers</atitle><jtitle>Haemophilia : the official journal of the World Federation of Hemophilia</jtitle><addtitle>Haemophilia</addtitle><date>2008-05</date><risdate>2008</risdate><volume>14</volume><issue>3</issue><spage>593</spage><epage>598</epage><pages>593-598</pages><issn>1351-8216</issn><eissn>1365-2516</eissn><notes>ark:/67375/WNG-FK2980LC-R</notes><notes>istex:216995F4E1DED630B2692E94BF40166348832FB2</notes><notes>ArticleID:HAE1670</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly important when a foetus may be affected by an X‐linked disorder such as haemophilia. This study aims to validate this sex assessment method and to test its clinical utility in the diagnosis of 15 potentially affected pregnancies in female carriers of haemophilia. In the validation study, 316 maternal blood samples from 196 pregnant women at gestations ranging from 5 weeks to 12 weeks were analysed. In the clinical study, 15 pregnancies at risk of having a haemophilic foetus were tested. All pregnancies in the validation study were correctly diagnosed. The accuracy and specificity of the methodology from the seventh week of gestation was 100%. The sex of all 15 pregnancies identified as being at risk of bearing a haemophilic foetus was correctly diagnosed. Foetal sex assessment by detecting specific Y chromosome sequences in maternal blood is now routinely used in our hospital because of its high accuracy from the seventh week of gestation. Reliable foetal gender determination from maternal blood of pregnant women carriers of haemophilia in the first trimester of gestation can avoid more conventional, invasive methods of prenatal diagnosis.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>18328062</pmid><doi>10.1111/j.1365-2516.2008.01670.x</doi><tpages>6</tpages></addata></record> |
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| identifier | ISSN: 1351-8216 |
| ispartof | Haemophilia : the official journal of the World Federation of Hemophilia, 2008-05, Vol.14 (3), p.593-598 |
| issn | 1351-8216 1365-2516 |
| language | eng |
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| source | Wiley |
| subjects | Chromosomes, Human, Y - genetics clinical routine DNA - blood Female Fetal Diseases - diagnosis foetal DNA Gestational Age haemophilia Hemophilia A - blood Hemophilia A - diagnosis Heterozygote Humans Male maternal blood noninvasive prenatal diagnosis Polymerase Chain Reaction Pregnancy Pregnancy Trimester, First Prenatal Diagnosis - methods Sensitivity and Specificity Sex Determination Analysis - methods |
| title | Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers |
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