{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:07:16Z","timestamp":1761844036921},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,1,4]],"date-time":"2011-01-04T00:00:00Z","timestamp":1294099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Program on Key Basic Research Project, China","award":["2009CB941704"],"award-info":[{"award-number":["2009CB941704"]}]},{"name":"Key Projects in the National Science and Technology Pillar Program in the Eleventh Five-year Plan Period, China","award":["2006BAI05A05"],"award-info":[{"award-number":["2006BAI05A05"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Trisomy 21 is the most common chromosomal aberration in live births. Some efforts have been made to develop noninvasive prenatal detection of trisomy 21 by using fetal DNA in maternal plasma. Due to the maternal DNA background, a distinguishable marker between maternal DNA and fetal DNA must be used, such as DNA methylation. The objective of this study was to search for fetal\u2010specific methylation markers on chromosome 21.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We chose six genes highly or specifically expressed in placenta and screened the methylation status of these gene promoter regions by combination of methylated\u2010DNA precipitation and methylation\u2010sensitive restriction enzymes assay (COMPARE\u2010MS). We further determined the methylation status of each CpG site within selected gene fragments by bisulfite sequencing. At last, we detected the placenta\u2010derived methylation marker in the first\u2010trimester maternal plasma by real\u2010time methylation\u2010specific PCR (MSP).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Down syndrome (DS) critical region gene 4 (<jats:italic>DSCR4<\/jats:italic>) promoter region was found to be hypomethylated in placental tissues and densely methylated in maternal blood cells. Unmethylated <jats:italic>DSCR4<\/jats:italic> (Down syndrome) sequence can be detected in the first\u2010trimester maternal plasma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>DSCR4<\/jats:italic> promoter DNA is a candidate fetal epigenetic marker for noninvasive prenatal detection of trisomy 21. Copyright \u00a9 2011 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.2684","type":"journal-article","created":{"date-parts":[[2011,1,4]],"date-time":"2011-01-04T12:34:38Z","timestamp":1294144478000},"page":"207-214","source":"Crossref","is-referenced-by-count":14,"title":["Hypomethylated <i>DSCR4<\/i> is a placenta\u2010derived epigenetic marker for trisomy 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