Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy

Ultrasound in Obstetrics and Gynecology

Volumn 45, Issue 1, 2015, Pages 55-60

  Song, Y ^a   Huang, S ^a   Zhou, X ^a   Jiang, Y ^a   Qi, Q ^a   Bian, X ^a   Zhang, J ^b   Yan, Y ^b   Cram, D S ^b   Liu, J ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b Berry Genomics ^*  (China)

Author keywords

Aneuploidy; Early gestation; Fetal DNA fraction; First trimester; Maternal weight; Non invasive prenatal testing

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT; DNA; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD; CHORION VILLUS SAMPLING; DNA SEQUENCE; EVALUATION STUDY; FEASIBILITY STUDY; FEMALE; FIRST TRIMESTER PREGNANCY; GENETICS; HIGH RISK PREGNANCY; HUMAN; MATERNAL AGE; METABOLISM; NEWBORN; NUCHAL TRANSLUCENCY MEASUREMENT; PILOT STUDY; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY; TRISOMY;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; CHORIONIC VILLI SAMPLING; DNA; FEASIBILITY STUDIES; FEMALE; HUMANS; INFANT, NEWBORN; MATERNAL AGE; NUCHAL TRANSLUCENCY MEASUREMENT; PILOT PROJECTS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY, HIGH-RISK; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA; TRISOMY;

EID: 84920876199     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.13460     Document Type: Article

References (20)

1. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013; 42: 15-33.
2. Musci TJ, Fairbrother G, Batey A, Bruursema J, Struble C, Song K. Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice. Prenat Diagn 2013; 33: 424-428.
3. Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J. Non invasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013; 33: 700-706.
4. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, Craig JA, Chudova DI, Devers PL, Jones KW, Oliver K, Rava RP, Sehnert AJ; CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014; 370: 799-808.
5. Lau TK, Cheung SW, Lo PSS, Pursley AN, Chan MK, Jiang F, Zhang H, Wang W, Jong LFJ, Yuen OKC, Chan HYC, Chan WSK, Choy KW. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol 2014; 43: 254-264.
6. Wang Y, Zhu J, Chen Y, Lu S, Chen B, Zhao X, Wu Y, Han X, Ma D, Liu Z, Cram D, Cheng W. Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing. Prenat Diagn 2013; 33: 1207-1210.
7. Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013; 33: 667-676.
8. Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, Weaver DD, Abernathy MP, Litton CG, Vance GH. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med 2013; 15: 729-732.
9. Grati FR, Malvestiti F, Ferreira JC, Bajaj K, Gaetani E, Agrati C, Grimi B, Dulcetti F, Ruggeri AM, De Toffol S, Maggi F, Wapner R, Gross S, Simoni G. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med 2014; Feb 13. DOI: 10.1038/gim.2014.3. [Epub ahead of print]
10. Gao Y, Stejskai D, Jiang F, Wang W. False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism. Ultrasound Obstet Gynecol 2014; 43: 477-478.
11. Wang Y, Chen Y, Tian F, Zhang J, Song Z, Wu Y, Han X, Hu W, Ma D, Cram D, Cheng W. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014; 60: 251-259.
12. Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013; 33: 662-666.
13. Taglauer ES, Wilkins-Haug L, Bianchi DW. Review: Cell-free fetal DNA in the maternal circulation as an indication of placental health and disease. Placenta 2014; 35 (Suppl): 64-68.
14. Hudecova I, Sahota D, Heung MM, Jin Y, Lee WS, Leung TY, Lo YM, Chiu RW. Maternal plasma fetal DNA fractions in pregnancies with high and low risks for fetal chromosome aneuploidies. PLoS One 2014; 9: e88484.
15. Qu JZ, Leung TY, Jiang P, Liao GJ, Cheng YK, Sun H, Chiu RW, Chan KC, Lo YM. Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis. Clin Chem 2013; 59: 427-435.
16. Liang D, Lv W, Wang H, Xu L, Liu J, Li H, Hu L, Peng Y, Wu L. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013; 33: 409-415.
17. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 2008; 105: 16266-16271.
18. Poikkeus P, Hiilesmaa V, Tiitinen A. Serum HCG 12 days after embryo transfer in predicting pregnancy outcome. Hum Reprod 2002; 17: 1901-1905.
19. Hassold T, Hunt P. To err (meiotically) is human: genesis of human aneuploidy. Nat Rev Genet 2001; 2: 280-291.
20. Benn P, Cuckle, H. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. Prenat Diagn 2014; Mar 27. DOI: 10.1002/pd.4366. [Epub ahead of print]