Cell-free RNA is a reliable fetoplacental marker in noninvasive fetal sex determination

Clinical Chemistry

Volumn 61, Issue 12, 2015, Pages 1515-1523

  Mersy, Elke ^a,b   Faas, Brigitte H W ^c   Spierts, Sabine ^a   Houben, Leonie M H ^a   Macville, Merryn V E ^a   Frints, Suzanna G M ^a,b   Paulussen, Aimee D C ^a,b   Veltman, Joris A ^a,b,c  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMELOGENIN; CELL FREE RNA; RNA; UNCLASSIFIED DRUG; AMELY PROTEIN, HUMAN; BIOLOGICAL MARKER; DNA;

ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; ELECTROPHORESIS; FEMALE; FETUS; GENE AMPLIFICATION; HUMAN; MALE; PREGNANCY OUTCOME; PREGNANT WOMAN; PRENATAL CARE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEX DETERMINATION; TROPHOBLAST; ADULT; BLOOD; GENE EXPRESSION; GENETICS; METABOLISM; MULTIPLEX POLYMERASE CHAIN REACTION; PLACENTA; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; SENSITIVITY AND SPECIFICITY; STANDARDS; VASCULARIZATION;

ADULT; AMELOGENIN; BIOMARKERS; DNA; FEMALE; FETUS; GENE EXPRESSION; HUMANS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PLACENTA; PREGNANCY; PRENATAL DIAGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SENSITIVITY AND SPECIFICITY; SEX DETERMINATION ANALYSIS;

EID: 84948661923     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2015.244962     Document Type: Article

References (24)

1. Palomaki GE, Kloza EM, Lambert-Messerlian GM, van den Boom D, Ehrich M, Deciu C, et al. Circulating cell free DNA testing: are some test failures informative? Prenat Diagn 2015;35:289-93.
2. Lo YM, Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, et al. Maternal plasma DNA sequencing reveals the genomewide genetic and mutational profile of the fetus. Sci Transl Med 2010;2:61ra91.
3. Lun FM, Chiu RW, Chan KC, Leung TY, Lau TK, Lo YM. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54:1664-72.
4. Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013;41:26-32.
5. Ashoor G, Poon L, Syngelaki A, Mosimann B, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors. Fetal Diagn Ther 2012;31:237-43.
6. Alberry M, Maddocks D, Jones M, Abdel Hadi M, Abdel-Fattah S, Avent N, Soothill PW. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn 2007; 27:415-8.
7. Ng EK, Tsui NB, Lau TK, Leung TN, Chiu RW, Panesar NS, et al. mRNA of placental origin is readily detectable in maternal plasma. Proc Natl Acad Sci USA 2003;100: 4748-53.
8. Costa JM, Benachi A, Olivi M, Dumez Y, Vidaud M, Gautier E. Fetal expressed gene analysis in maternal blood: a new tool for noninvasive study of the fetus. Clin Chem 2003;49:981-3.
9. MacLeod JN, Lee AK, Liebhaber SA, Cooke NE. Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. J Biol Chem 1992;267:14219-26.
10. Rull K, Laan M. Expression of beta-subunit of HCG genes during normal and failed pregnancy. Hum Reprod 2005;20:3360-8.
11. Farina A, Chan CW, Chiu RW, Tsui NB, Carinci P, Concu M, et al. Circulating corticotropin-releasing hormone mRNA in maternal plasma: relationship with gestational age and severity of preeclampsia. Clin Chem 2004;50:1851-4.
12. Masuzaki H, Miura K, Yoshiura K, Yamasaki K, Miura S, Yoshimura S, et al. Placental mRNA in maternal plasma and its clinical application to the evaluation of placental status in a pregnant woman with placenta previapercreta. Clin Chem 2005;51:923-5.
13. Takacs P, Jaramillo S, Datar R, Williams A, Olczyk J, Barnhart K. Placental mRNA in maternal plasma as a predictor of ectopic pregnancy. Int J Gynaecol Obstet 2012;117:131-3.
14. Whitehead C, Teh WT, Walker SP, Leung C, Mendis S, Larmour L, Tong S. Quantifying circulating hypoxia-induced RNA transcripts in maternal blood to determine in utero fetal hypoxic status. BMC Med 2013;11:256.
15. Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011;306:627-36.
16. Wright CF, Wei Y, Higgins JP, Sagoo GS. Non-invasive prenatal diagnostic test accuracy for fetal sex using cellfree DNA a review and meta-analysis. BMC Res Notes 2012;5:476.
17. Scheffer PG, van der Schoot CE, Page-Christiaens GC, Bossers B, van Erp F, de Haas M. Reliability of fetal sex determination using maternal plasma. Obstet Gynecol 2010;115:117-26.
18. White HE, Dent CL, Hall VJ, Crolla JA, Chitty LS. Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis. PLoS One 2012;7:e45073.
19. Männik J, Vaas P, Rull K, Teesalu P, Laan M. Differential placental expression profile of human growth hormone/ chorionic somatomammotropin genes in pregnancies with pre-eclampsia and gestational diabetes mellitus. Mol Cell Endocrinol 2012;355:180-7.
20. Männik J, Vaas P, Rull K, Teesalu P, Rebane T, Laan M. Differential expression profile of growth hormone/chorionic somatomammotropin genes in placenta of small-and large-for-gestational-age newborns. J Clin Endocrinol Metab 2010;95:2433-42.
21. Lattanzi W, Di Giacomo MC, Lenato GM, Chimienti G, Voglino G, Resta N, et al. A large interstitial deletion encompassing the amelogenin gene on theshort arm of the Y chromosome. Hum Genet 2005;116:395-401.
22. Mitchell RJ, Kreskas M, Baxter E, Buffalino L, Van Oorschot RA. An investigation of sequence deletions of amelogenin (AMELY), a Y-chromosome locus commonly used for gender determination. Ann Hum Biol 2006;33:227-40.
23. Bianchi DW, Parsa S, Bhatt S, Halks-Miller M, Kurtzman K, Sehnert AJ, Swanson A. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol 2015; 125:375-82.
24. Porreco RP, Garite TJ, Maurel K, Marusiak B; Obstetrix Collaborative Research Network, Ehrich M, et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol 2014;211:365.e1-12.