ADAM12s as a first-trimester screening marker of trisomy

Objective To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12‐S (ADAM12s) as an additional marker for the combined test in the Dutch first‐trimester national Down syndrome (DS) screening program. Methods Serum samples were collected between 2004 and 2007 as part of the n...

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Veröffentlicht in:Prenatal diagnosis 2009-09, Vol.29 (9), p.866-869
Hauptverfasser: Wortelboer, E. J., Linskens, I. H., Koster, M. P. H., Stoutenbeek, P., Cuckle, H., Blankenstein, M. A., Visser, G. H. A., van Vugt, J. M. G., Schielen, P. C. J. I.
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container_end_page 869
container_issue 9
container_start_page 866
container_title Prenatal diagnosis
container_volume 29
creator Wortelboer, E. J.
Linskens, I. H.
Koster, M. P. H.
Stoutenbeek, P.
Cuckle, H.
Blankenstein, M. A.
Visser, G. H. A.
van Vugt, J. M. G.
Schielen, P. C. J. I.
description Objective To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12‐S (ADAM12s) as an additional marker for the combined test in the Dutch first‐trimester national Down syndrome (DS) screening program. Methods Serum samples were collected between 2004 and 2007 as part of the national program. A total of 218 singleton cases of trisomy 21 (DS), 62 trisomy 18 (Edwards syndrome) and 29 trisomy 13 (Patau syndrome) were identified. All cases were matched with controls for gestation, maternal weight and maternal age. The serum concentration of ADAM12s was determined ‘blind’ to outcome and expressed in multiples of the gestation‐specific median for controls (MoM). Results The median ADAM12s was 1.00 MoM in controls and in the DS cases at 8, 9, 10, 11, 12, 13 weeks it was 0.45 (n = 3), 0.73 (22), 0.74 (53), 0.85 (37), 0.92 (71), 1.06 (32) MoM, respectively. The median for trisomy 18 was 0.85 MoM and for trisomy 13 0.63 MoM. Conclusion The ADAM12s MoM values were clearly reduced in early first‐trimester for all trisomies. However, the screening performance for DS did not greatly improve adding ADAM12s. ADAM12s could be an additional biochemical marker for first‐trimester screening for trisomies other than DS. Copyright © 2009 John Wiley & Sons, Ltd.
doi_str_mv 10.1002/pd.2300
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J. ; Linskens, I. H. ; Koster, M. P. H. ; Stoutenbeek, P. ; Cuckle, H. ; Blankenstein, M. A. ; Visser, G. H. A. ; van Vugt, J. M. G. ; Schielen, P. C. J. I.</creator><creatorcontrib>Wortelboer, E. J. ; Linskens, I. H. ; Koster, M. P. H. ; Stoutenbeek, P. ; Cuckle, H. ; Blankenstein, M. A. ; Visser, G. H. A. ; van Vugt, J. M. G. ; Schielen, P. C. J. I.</creatorcontrib><description>Objective To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12‐S (ADAM12s) as an additional marker for the combined test in the Dutch first‐trimester national Down syndrome (DS) screening program. Methods Serum samples were collected between 2004 and 2007 as part of the national program. A total of 218 singleton cases of trisomy 21 (DS), 62 trisomy 18 (Edwards syndrome) and 29 trisomy 13 (Patau syndrome) were identified. All cases were matched with controls for gestation, maternal weight and maternal age. The serum concentration of ADAM12s was determined ‘blind’ to outcome and expressed in multiples of the gestation‐specific median for controls (MoM). Results The median ADAM12s was 1.00 MoM in controls and in the DS cases at 8, 9, 10, 11, 12, 13 weeks it was 0.45 (n = 3), 0.73 (22), 0.74 (53), 0.85 (37), 0.92 (71), 1.06 (32) MoM, respectively. The median for trisomy 18 was 0.85 MoM and for trisomy 13 0.63 MoM. Conclusion The ADAM12s MoM values were clearly reduced in early first‐trimester for all trisomies. However, the screening performance for DS did not greatly improve adding ADAM12s. ADAM12s could be an additional biochemical marker for first‐trimester screening for trisomies other than DS. Copyright © 2009 John Wiley &amp; Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>ISSN: 1097-0223</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.2300</identifier><identifier>PMID: 19544290</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley &amp; Sons, Ltd</publisher><subject>ADAM Proteins - analysis ; ADAM Proteins - blood ; ADAM12 Protein ; ADAM12s ; Adult ; Biochemical markers ; Biological and medical sciences ; Biomarkers - blood ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 21 ; Delivery. Postpartum. Lactation ; Down Syndrome - diagnosis ; Down's syndrome ; Efficiency ; Female ; first-trimester combined test ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. Biological and molecular evolution ; Gestation ; Gynecology. Andrology. Obstetrics ; Humans ; Mass Screening - methods ; Medical sciences ; Membrane Proteins - analysis ; Membrane Proteins - blood ; Metalloproteinase ; Molecular and cellular biology ; Patau's syndrome ; Pregnancy ; Pregnancy Trimester, First - blood ; Prenatal diagnosis ; Prenatal Diagnosis - methods ; Protein Isoforms - analysis ; Protein Isoforms - blood ; Trisomy ; Trisomy - diagnosis ; trisomy 13 ; trisomy 18 ; trisomy 21</subject><ispartof>Prenatal diagnosis, 2009-09, Vol.29 (9), p.866-869</ispartof><rights>Copyright © 2009 John Wiley &amp; Sons, Ltd.</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4170-d1367deaf4fcfe333e61d48462b3071f0c1c0f18ba9f126957c6adf2d98433633</citedby><cites>FETCH-LOGICAL-c4170-d1367deaf4fcfe333e61d48462b3071f0c1c0f18ba9f126957c6adf2d98433633</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.2300$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.2300$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&amp;idt=21897246$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19544290$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wortelboer, E. J.</creatorcontrib><creatorcontrib>Linskens, I. H.</creatorcontrib><creatorcontrib>Koster, M. P. H.</creatorcontrib><creatorcontrib>Stoutenbeek, P.</creatorcontrib><creatorcontrib>Cuckle, H.</creatorcontrib><creatorcontrib>Blankenstein, M. A.</creatorcontrib><creatorcontrib>Visser, G. H. A.</creatorcontrib><creatorcontrib>van Vugt, J. M. G.</creatorcontrib><creatorcontrib>Schielen, P. C. J. I.</creatorcontrib><title>ADAM12s as a first-trimester screening marker of trisomy</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Objective To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12‐S (ADAM12s) as an additional marker for the combined test in the Dutch first‐trimester national Down syndrome (DS) screening program. Methods Serum samples were collected between 2004 and 2007 as part of the national program. A total of 218 singleton cases of trisomy 21 (DS), 62 trisomy 18 (Edwards syndrome) and 29 trisomy 13 (Patau syndrome) were identified. All cases were matched with controls for gestation, maternal weight and maternal age. The serum concentration of ADAM12s was determined ‘blind’ to outcome and expressed in multiples of the gestation‐specific median for controls (MoM). Results The median ADAM12s was 1.00 MoM in controls and in the DS cases at 8, 9, 10, 11, 12, 13 weeks it was 0.45 (n = 3), 0.73 (22), 0.74 (53), 0.85 (37), 0.92 (71), 1.06 (32) MoM, respectively. The median for trisomy 18 was 0.85 MoM and for trisomy 13 0.63 MoM. Conclusion The ADAM12s MoM values were clearly reduced in early first‐trimester for all trisomies. However, the screening performance for DS did not greatly improve adding ADAM12s. ADAM12s could be an additional biochemical marker for first‐trimester screening for trisomies other than DS. Copyright © 2009 John Wiley &amp; Sons, Ltd.</description><subject>ADAM Proteins - analysis</subject><subject>ADAM Proteins - blood</subject><subject>ADAM12 Protein</subject><subject>ADAM12s</subject><subject>Adult</subject><subject>Biochemical markers</subject><subject>Biological and medical sciences</subject><subject>Biomarkers - blood</subject><subject>Chromosomes, Human, Pair 13</subject><subject>Chromosomes, Human, Pair 18</subject><subject>Chromosomes, Human, Pair 21</subject><subject>Delivery. Postpartum. Lactation</subject><subject>Down Syndrome - diagnosis</subject><subject>Down's syndrome</subject><subject>Efficiency</subject><subject>Female</subject><subject>first-trimester combined test</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Gestation</subject><subject>Gynecology. Andrology. 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J.</creator><creator>Linskens, I. H.</creator><creator>Koster, M. P. H.</creator><creator>Stoutenbeek, P.</creator><creator>Cuckle, H.</creator><creator>Blankenstein, M. A.</creator><creator>Visser, G. H. A.</creator><creator>van Vugt, J. M. G.</creator><creator>Schielen, P. C. J. I.</creator><general>John Wiley &amp; Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200909</creationdate><title>ADAM12s as a first-trimester screening marker of trisomy</title><author>Wortelboer, E. J. ; Linskens, I. H. ; Koster, M. P. H. ; Stoutenbeek, P. ; Cuckle, H. ; Blankenstein, M. A. ; Visser, G. H. A. ; van Vugt, J. M. G. ; Schielen, P. C. J. 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I.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>ADAM12s as a first-trimester screening marker of trisomy</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2009-09</date><risdate>2009</risdate><volume>29</volume><issue>9</issue><spage>866</spage><epage>869</epage><pages>866-869</pages><issn>0197-3851</issn><issn>1097-0223</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Objective To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12‐S (ADAM12s) as an additional marker for the combined test in the Dutch first‐trimester national Down syndrome (DS) screening program. Methods Serum samples were collected between 2004 and 2007 as part of the national program. A total of 218 singleton cases of trisomy 21 (DS), 62 trisomy 18 (Edwards syndrome) and 29 trisomy 13 (Patau syndrome) were identified. All cases were matched with controls for gestation, maternal weight and maternal age. The serum concentration of ADAM12s was determined ‘blind’ to outcome and expressed in multiples of the gestation‐specific median for controls (MoM). Results The median ADAM12s was 1.00 MoM in controls and in the DS cases at 8, 9, 10, 11, 12, 13 weeks it was 0.45 (n = 3), 0.73 (22), 0.74 (53), 0.85 (37), 0.92 (71), 1.06 (32) MoM, respectively. The median for trisomy 18 was 0.85 MoM and for trisomy 13 0.63 MoM. Conclusion The ADAM12s MoM values were clearly reduced in early first‐trimester for all trisomies. However, the screening performance for DS did not greatly improve adding ADAM12s. ADAM12s could be an additional biochemical marker for first‐trimester screening for trisomies other than DS. Copyright © 2009 John Wiley &amp; Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley &amp; Sons, Ltd</pub><pmid>19544290</pmid><doi>10.1002/pd.2300</doi><tpages>4</tpages></addata></record>
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subjects ADAM Proteins - analysis
ADAM Proteins - blood
ADAM12 Protein
ADAM12s
Adult
Biochemical markers
Biological and medical sciences
Biomarkers - blood
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 21
Delivery. Postpartum. Lactation
Down Syndrome - diagnosis
Down's syndrome
Efficiency
Female
first-trimester combined test
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Gestation
Gynecology. Andrology. Obstetrics
Humans
Mass Screening - methods
Medical sciences
Membrane Proteins - analysis
Membrane Proteins - blood
Metalloproteinase
Molecular and cellular biology
Patau's syndrome
Pregnancy
Pregnancy Trimester, First - blood
Prenatal diagnosis
Prenatal Diagnosis - methods
Protein Isoforms - analysis
Protein Isoforms - blood
Trisomy
Trisomy - diagnosis
trisomy 13
trisomy 18
trisomy 21
title ADAM12s as a first-trimester screening marker of trisomy
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