Portal de Periódicos da CAPES

Evidence of genetic underexpression in chorionic villi samples of euploid fetuses with increased nuchal translucency at 10–11 weeks' gestation

2006; Wiley; Volume: 26; Issue: 2 Linguagem: Inglês

10.1002/pd.1373

1097-0223

Antonio Farina, Stefano Volinia, Diego Arcelli, Francesca Francioso, Paola DeSanctis, Cinzia Zucchini, G. Pilu, Paolo Carinci, Danila Morano, Maria Carla Pittalis, Patrizio Calderoni, Sonia Vagnoni, Nicola Rizzo,

Renal and related cancers

Prenatal DiagnosisVolume 26, Issue 2 p. 128-133 Original Paper Evidence of genetic underexpression in chorionic villi samples of euploid fetuses with increased nuchal translucency at 10–11 weeks' gestation Antonio Farina, Corresponding Author Antonio Farina [email protected] Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, Italy Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalyVia Belmeloro 8, 40126 Bologna, Italy.Search for more papers by this authorStefano Volinia, Stefano Volinia Laboratory of Functional Genomics and Telethon Facility-Data Mining for Analysis of DNA Microarrays, Department of Morphology and Embryology, University of Ferrara, Ferrara, ItalySearch for more papers by this authorDiego Arcelli, Diego Arcelli Laboratory of Functional Genomics and Telethon Facility-Data Mining for Analysis of DNA Microarrays, Department of Morphology and Embryology, University of Ferrara, Ferrara, ItalySearch for more papers by this authorFrancesca Francioso, Francesca Francioso Laboratory of Functional Genomics and Telethon Facility-Data Mining for Analysis of DNA Microarrays, Department of Morphology and Embryology, University of Ferrara, Ferrara, ItalySearch for more papers by this authorPaola DeSanctis, Paola DeSanctis Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorCinzia Zucchini, Cinzia Zucchini Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorGianluigi Pilu, Gianluigi Pilu Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorPaolo Carinci, Paolo Carinci Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorDanila Morano, Danila Morano Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorM. Carla Pittalis, M. Carla Pittalis Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorPatrizio Calderoni, Patrizio Calderoni Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorSonia Vagnoni, Sonia Vagnoni Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorNicola Rizzo, Nicola Rizzo Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this author Antonio Farina, Corresponding Author Antonio Farina [email protected] Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, Italy Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalyVia Belmeloro 8, 40126 Bologna, Italy.Search for more papers by this authorStefano Volinia, Stefano Volinia Laboratory of Functional Genomics and Telethon Facility-Data Mining for Analysis of DNA Microarrays, Department of Morphology and Embryology, University of Ferrara, Ferrara, ItalySearch for more papers by this authorDiego Arcelli, Diego Arcelli Laboratory of Functional Genomics and Telethon Facility-Data Mining for Analysis of DNA Microarrays, Department of Morphology and Embryology, University of Ferrara, Ferrara, ItalySearch for more papers by this authorFrancesca Francioso, Francesca Francioso Laboratory of Functional Genomics and Telethon Facility-Data Mining for Analysis of DNA Microarrays, Department of Morphology and Embryology, University of Ferrara, Ferrara, ItalySearch for more papers by this authorPaola DeSanctis, Paola DeSanctis Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorCinzia Zucchini, Cinzia Zucchini Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorGianluigi Pilu, Gianluigi Pilu Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorPaolo Carinci, Paolo Carinci Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorDanila Morano, Danila Morano Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorM. Carla Pittalis, M. Carla Pittalis Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorPatrizio Calderoni, Patrizio Calderoni Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorSonia Vagnoni, Sonia Vagnoni Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this authorNicola Rizzo, Nicola Rizzo Prenatal Medicine Unit, Embryology and Applied Biology, University of Bologna, Bologna, ItalySearch for more papers by this author First published: 07 February 2006 https://doi.org/10.1002/pd.1373Citations: 14AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract Objective To retrospectively investigate whether the genetic profile from chorionic villous sampling (CVS) found in euploid fetuses with increased NT differs from matched controls. Study Design We employed cDNA microarray technology to characterize and compare the gene expression profile of chorionic villous tissues (which encompass the trophoblast and inner mesenchymal core) belonging to four singleton male fetuses with increased NT at 10–11 weeks' gestation. A pool of four normal chorionic villous tissues belonging to four respective fetuses, matched for gestational age and gender, was used as controls. Results In euploid fetuses, we found several underexpressed genes, possibly involved in mechanisms associated with the abnormal NT thickness. All these genes are likely to belong to the mesenchymal core of the villus that originates from the extraembryonic mesoderm, and thus might be closely representative of the embryonic genetic profile. They include: (1) genes of embryonic development and differentiation such as Endothelin 3 (EDN3) and secreted frizzled-related protein 4 (SFRP4); (2) genes of the extracellular matrix (ECM) metabolism such as tissue inhibitor of metalloproteinase1 (TIMP1), and disintegrin-like and matrix metalloproteinase (MMP) (reprolysin type) with thrombospondin type 1 Motif or ADAMTS2, exostoses (multiple)-like 1 (EXTL1), heparan sulfate (HS) 6-O-sulfotransferase 1 or HS6ST1, fibronectin 1 (FN1) and Integrin Alpha 10 (ITGA10) involved in HS and proteoglycan bio-synthesis, ECM synthesis and cell-matrix adhesion; (3) genes involved in vessel formation and differentiation such as angiogenic factor (VG5Q), and in blood pressure control and muscle contraction, like Endothelin 3 or EDN3 and sarcolemma associated protein (SLMAP). Such lower expressions of the villous tissues might be related to an immature genetic profile of the embryo development as well as abnormal regulation of ECM bio-synthesis and/or improper vessel growth and blood pressure control. Also, the results partially support the theories proposed for NT enlargement such as altered composition of ECM and abnormal/delayed development of the circulatory system. Conclusions Abnormal extraembryonic genetic expression is found at 10–11 weeks' gestation in euploid fetuses with increased NT. If both extra- and intraembryonic mesoderms express the same genetic alterations, then microarray analyses on CVS could be used to screen several mesoderm-derivate anomalies. Copyright © 2006 John Wiley & Sons, Ltd. REFERENCES Bohlandt S, von Kaisenberg CS, Wewetzer K, Christ B, Nicolaides KH, Brand-Saberi B. 2000. Hyaluronan in the nuchal skin of chromosomally abnormal fetuses. Hum Reprod 15: 1155– 1158. Brizot ML, Schultz R, Patroni LT, Lopes LM, Armbruster-Moraes E, Zugaib M. 2001. Trisomy 10: ultrasound features and natural history after first trimester diagnosis. Prenat Diagn 216: 72– 75. Fielden MR, Halgren RG, Dere E, Zacharewski TR. 2002. GP3: GenePix post-processing program for automated analysis of raw microarray data. Bioinformatics 18: 771– 773. Fisk NM, Vaughan J, Smidt M, Wigglesworth J. 1991. Transvaginal ultrasound recognition of nuchal edema in the first-trimester diagnosis of achondrogenesis. J Clin Ultrasound 19: 586– 590. Fujimoto T, Hata J, Yokoyama S, Mitomi T. 1989. A study of the extracellular matrix protein as the migration pathway of neural crest cells in the gut: analysis in human embryos with special reference to the pathogenesis of Hirschsprung's disease. J Pediatr Surg 24: 550– 556. Gilpin BJ, Loechel F, Mattei MG, Engvall E, Albrechtsen R, Wewer UM. 1998. A novel, secreted form of human ADAM 12 (meltrin alpha) provokes myogenesis in vivo. J Biol Chem 273(1): 157– 166. Guzzo RM, Salih M, Moore ED, Tuana BS. 2004. Molecular properties of cardiac tail–anchored membrane protein SLMAP are consistent with structural role in arrangement of the excitation–contraction coupling apparatus. Am J Physiol Heart Circ Physiol 288: 1810– 1819. Haak MC, van Vugt JM. 2003. Pathophysiology of increased nuchal translucency: a review of the literature. Hum Reprod Update 9: 175– 184. Hyett JA, Moscoso G, Nicolaides KH. 1995a. First-trimester nuchal translucency and cardiac septal defects in fetuses with trisomy 21. Am J Obstet Gynecol 172: 1411– 1413. Hyett J, Moscoso G, Nicolaides K. 1995b. Morphometric analysis of the great vessels in early fetal life. Hum Reprod 10: 3045– 3048. Kusche-Gullberg M, Kjellen L. 2003. Sulfotransferases in glycosaminoglycan biosynthesis. Curr Opin Struct Biol 13: 605– 611. Laigaard J, Christiansen M, Frohlich C, Pedersen BN, Ottesen B, Wewer UM. 2005. The level of ADAM12-S in maternal serum is an early first-trimester marker of fetal trisomy 18. Prenat Diagn 25(1): 45– 46. Lehnert K, Ni J, Leung E, et al. 1999. The integrin alpha10 subunit: expression pattern, partial gene structure, and chromosomal localization. Cytogenet Cell Genet 87: 238– 244. Mukhopadhyay P, Greene RM, Zacharias W, et al. 2004. Developmental gene expression profiling of mammalian, fetal orofacial tissue. Birth Defects Res A: Clin Mol Teratol 70(12): 912– 926. Muller MA, Pajkrt E, Bleker OP, Bonsel GJ, Bilardo CM. 2004. Disappearance of enlarged nuchal translucency before 14 weeks' gestation: relationship with chromosomal abnormalities and pregnancy outcome. Ultrasound Obstet Gynecol 24: 169– 174. Nicolaides KH. 2004. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 191: 45– 67. Opdecamp K, Kos L, Arnheiter H, Pavan WJ. 1998. Endothelin signalling in the development of neural crest-derived melanocytes. Biochem Cell Biol 76: 1093– 1099. Perris R, Johansson S. 1990. Inhibition of neural crest cell migration by aggregating chondroitin sulfate proteoglycans is mediated by their hyaluronan-binding region. Dev Biol 137: 1– 12. Roberts LJ, Bewley S, Mackinson AM, Rodeck CH. 1995. First trimester fetal nuchal translucency: problems with screening the general population. Br J Obstet Gynaecol 102: 381– 385. Schwarzler P, Moscoso G, Bernard JP, Hill L, Senat MV, Ville Y. 1999. Trisomy 10: first-trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency. Ultrasound Obstet Gynecol 13(1): 67– 70. Superti-Furga A. 1994. A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet 55: 1137– 1145. van der Putte SC. 1977. Lymphatic malformation in human fetuses. A study of fetuses with Turner's syndrome or status Bonnevie-Ullrich. Virchows Arch A: Pathol Anat Histol 376: 233– 246. Volinia S, Evangelisti R, Franciososo F, Arcelli D, Carella M, Gasparini P. 2004. GOAL: automated gene ontology analysis of expression profiles. Nucleic Acids Res 32: 492– 499. von Kaisenberg CS, Brand-Saberi B, Christ B, Vallian S, Farzaneh F, Nicolaides KH. 1998a. Collagen type VI gene expression in the skin of trisomy 21 fetuses. Obstet Gynecol. 91: 319– 323. von Kaisenberg CS, Krenn V, Ludwig M, Nicolaides KH, Brand-Saberi B. 1998b. Morphological classification of nuchal skin in human fetuses with trisomy 21, 18, and 13 at 12–18 weeks and in a trisomy 16 mouse. Anat Embryol (Berl) 197: 105– 124. von Kaisenberg CS, Prols F, Nicolaides KH, Maass N, Meinhold-Heerlein I, Brand-Saberi B. 2003. Glycosaminoglycans and proteoglycans in the skin of aneuploid fetuses with increased nuchal translucency. Hum Reprod 18: 2544– 2561. Zoppi MA, Ibba RM, Floris M, Manca F, Axiana C, Monni G. 2003. Changes in nuchal translucency thickness in normal and abnormal karyotype fetuses. Br J Obstet Gynaecol 110: 584– 588. Citing Literature Volume26, Issue2February 2006Pages 128-133 ReferencesRelatedInformation