Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy

Journal of Human Genetics

Volumn 61, Issue 7, 2016, Pages 647-652

  Suzumori, Nobuhiro ^a,b   Ebara, Takeshi ^b   Yamada, Takahiro ^a,c   Samura, Osamu ^a,d   Yotsumoto, Junko ^a,e   Nishiyama, Miyuki ^a,f   Miura, Kiyonori ^a,g   Sawai, Hideaki ^a,h   Murotsuki, Jun ^a,i   Kitagawa, Michihiro ^a,j   Kamei, Yoshimasa ^a,k   Masuzaki, Hideaki ^a,g   Hirahara, Fumiki ^a,l   Saldivar, Juan Sebastian ^m   Dharajiya, Nilesh ^m   Sago, Haruhiko ^a,f   Sekizawa, Akihiko ^a,n  

^a Japan NIPT consortium ^*  (Japan)

^b NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^c HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e OCHANOMIZU UNIVERSITY   (Japan)

^f NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^g NAGASAKI UNIVERSITY   (Japan)

^h HYOGO COLLEGE OF MEDICINE   (Japan)

ⁱ TOHOKU UNIVERSITY   (Japan)

^j FUKUOKA SANNO HOSPITAL   (Japan)

^k SAITAMA MEDICAL UNIVERSITY   (Japan)

^l YOKOHAMA CITY UNIVERSITY   (Japan)

^m SEQUENOM INC   (United States)

ⁿ SHOWA UNIVERSITY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FETAL CELL FREE DNA; UNCLASSIFIED DRUG; GENETIC MARKER;

ADULT; ARTICLE; BODY HEIGHT; BODY MASS; BODY WEIGHT; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; FEMALE; GESTATIONAL AGE; HUMAN; MATERNAL PLASMA; MULTICENTER STUDY; PROSPECTIVE STUDY; TRISOMY 13; TRISOMY 18; TRISOMY 21; BLOOD; GENETIC MARKER; GENETIC SCREENING; GENETICS; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; REPRODUCIBILITY; TRISOMY;

ADULT; BODY WEIGHT; DNA; FEMALE; GENETIC MARKERS; GENETIC TESTING; GESTATIONAL AGE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS; TRISOMY;

EID: 84979561751     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2016.25     Document Type: Article

References (22)

1. Chitty, L. S., & Bianchi, D. W. Noninvasive prenatal testing: the paradigm is shifting rapidly. Prenat. Diagn. 33, 511-513 (2013
2. Palomaki, G. E., Deciu, C., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet. Med. 14, 296-305 (2012
3. Bianchi, D. W., Platt, L. D., Goldberg, J. D., Abuhamad, A. Z., Sehnert, A. J., & Rava, R. P. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Maternal blood is source to accurately diagnose fetal aneuploidy (MELISSA) Study Group. Obstet. Gynecol. 119, 890-901 (2012
4. Porreco, R. P., Garite, T. J., 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. 211, 365. e1-e12 (2014
5. Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., et al. Cell-free DNA analysis for noninvasive examination of trisomy. N. Engl. J. Med. 372, 1589-1597 (2015
6. Sago, H., & Sekizawa, A., Japan NIPT Consortium. Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience. Prenat. Diagn. 35, 1-6 (2015
7. Suzumori, N., Ebara, T., Kumagai, K., Goto, S., Yamada, Y., Kamijima, M., et al. Non-specific psychological distress in women undergoing noninvasive prenatal testing because of advanced maternal age. Prenat. Diagn. 34, 1055-1060 (2014
8. Bianchi, D. W., & Wilkins-Haug, L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: What has happened since the rubber met the road?. Clin. Chem. 60, 78-87 (2014
9. Taglauer, E. S., Wilkins-Haug, L., & Bianchi, D. W. Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease. Placenta 28, S64-S68 (2014
10. Hahn, S., & Huppertz, W. Fetal cells and cell free fetal nucleic acids in maternal blood: new tools to study abnormal placentation?. Placenta 26, 515-526 (2005
11. Hudecova, I., Sahota, D., Heung, M. M., Jin, Y., Lee, W. S., Leung, T. Y., et al. Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies. PLoS ONE 9, e88484 (2014
12. Kim, S. K., Hannum, G., Geis, J., Tynan, J., Hogg, G., Zhao, C., et al. Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts. Prenat. Diagn. 35, 810-815 (2015
13. Ashoor, G., Syngelaki, A., Poon, L. C. Y., Rezende, J. C., & Nicolaides, K. H. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks gestation: relation to maternal and fetal characteristics. Ultrasound Obstet. Gynecol. 41, 26-32 (2013
14. R Development Core Team. R: A Language and Environment for Statistical Computing. (R Foundation for Statistical Computing, Vienna, Austria, 2005); ISBN 3-900051-07-0; available at: http://www.R-project.org. Accessed 26 February 2015
15. Kanda, Y. Investigation of the freely-Available easy-To-use software EZR (Easy R) for medical statistics. Bone Marrow Transplant. 48, 452-458 (2013
16. Fox, J. The R Commander: a basic-statistics graphical user interface to R. J. Stat. Softw. 19, 1-42 (2005
17. Rava, R. P., Srinvasan, A., Sehnert, A. J., & Bianchi, D. W. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin. Chem. 60, 243-250 (2014
18. Shi, X., Zhang, Z., Cram, D. S., & Liu, C. Feasibility of noninvasive prenatal testing for common fetal aneuploidies in an early gestational window. Clin. Chim. Acta 439, 24-28 (2015
19. Brar, H., Wang, E., Struble, C., Musci, T., & Norton, M. E. The fetal fraction of cell-free DNA in maternal plasma is not affected by a prior risk of fetal trisomy. J. Matern. Fetal Neonatal Med. 26, 143-145 (2013
20. Liu, Y. Y., Chik, K. W., Chiu, R. W., Ho, C. Y., & Lo, Y. M. Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation. Clin. Chem. 48, 421-427 (2002
21. Haghiac, M., Vora, N. L., Basu, S., Johnson, K. L., Presley, L., Bianchi, D. W., et al. Increased death of adipose cells, a path to release cell free DNA into systemic circulation of obese women. Obesity 20, 2213-2219 (2012
22. Nicolaides, K. H. Turning the pyramid of prenatal care. Fetal Diagn. Ther. 29, 183-196 (2011