biostudies-literatureKoide KNICHD NIH HHS295-305https://www.ebi.ac.uk/biostudies/studies/S-EPMC3206603biostudies-literatureUnknown129(3)Trisomy 18 is a common human aneuploidy that is associated with significant perinatal mortality. Unlike the well-characterized "critical region" in trisomy 21 (21q22), there is no corresponding region on chromosome 18 associated with its pathogenesis. The high morbidity and mortality of affected individuals has limited extensive investigations. In order to better understand the molecular mechanisms underlying the congenital anomalies observed in this condition, we investigated the in utero gene expression profile of second trimester fetuses affected with trisomy 18. Total RNA was extracted from cell-free amniotic fluid supernatant from aneuploid fetuses and euploid controls matched for gestational age and hybridized to Affymetrix U133 Plus 2.0 arrays. Individual differentially expressed trHuman geneticsTranscriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18.PMC3206603R01 HD 042053-07R01 HD042053R01 HD058880R01 HD 058880-01R01 HD058880-03Johnson KLKoide KCowan JMSlonim DKBianchi DWTantravahi UfalseTranscriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18.Trisomy 18 is a common human aneuploidy that is associated with significant perinatal mortality. Unlike the well-characterized "critical region" in trisomy 21 (21q22), there is no corresponding region on chromosome 18 associated with its pathogenesis. The high morbidity and mortality of affected individuals has limited extensive investigations. In order to better understand the molecular mechanisms underlying the congenital anomalies observed in this condition, we investigated the in utero gene expression profile of second trimester fetuses affected with trisomy 18. Total RNA was extracted from cell-free amniotic fluid supernatant from aneuploid fetuses and euploid controls matched for gestational age and hybridized to Affymetrix U133 Plus 2.0 arrays. Individual differentially expressed tr2011-01-01T00:00:00Z2011 Mar2025-05-18T10:45:11.1Z2025-05-18T10:45:11.1ZS-EPMC32066032115293510.1007/s00439-010-0923-3