Morgan S, Delbarre A, Ward P. Impact of introducing a national policy for prenatal Down syndrome screening on the diagnostic invasive procedure rate in England. Ultrasound Obstet Gynecol. 2013;41(5):526–9.
Article
CAS
PubMed
Google Scholar
ACOG Practice Bulletin No. 77. screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007; 109(1):217–227.
Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31(1):7–15.
Article
PubMed
Google Scholar
Fortuny A, Borrell A, Soler A, Casals E, Costa D, Carrio A, Puerto B, Seres A, Cararach J, Delgado R. Chorionic villus sampling by biopsy forceps. Results of 1580 procedures from a single centre. Prenat Diagn. 1995;15(6):541–50.
Article
CAS
PubMed
Google Scholar
Crandall BF, Kulch P, Tabsh K. Risk assessment of amniocentesis between 11 and 15 weeks: comparison to later amniocentesis controls. Prenat Diagn. 1994;14(10):913–9.
Article
CAS
PubMed
Google Scholar
Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther. 2010;27(1):1–7.
Article
PubMed
Google Scholar
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485–7.
Article
CAS
PubMed
Google Scholar
Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol. 2013;42(1):15–33.
Article
CAS
PubMed
Google Scholar
Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;207(2):137 e131-138.
Article
PubMed
Google Scholar
Jeon YJ, Zhou Y, Li Y, Guo Q, Chen J, Quan S, Zhang A, Zheng H, Zhu X, Lin J, et al. The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform. PLoS One. 2014;9(10):e110240.
Article
PubMed
PubMed Central
Google Scholar
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(7):662–6.
Article
CAS
PubMed
Google Scholar
Chan KC, Zhang J, Hui AB, Wong N, Lau TK, Leung TN, Lo KW, Huang DW, Lo YM. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem. 2004;50(1):88–92.
Article
CAS
PubMed
Google Scholar
Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet. 1999;64(1):218–24.
Article
CAS
PubMed
PubMed Central
Google Scholar
Smid M, Galbiati S, Vassallo A, Gambini D, Ferrari A, Viora E, Pagliano M, Restagno G, Ferrari M, Cremonesi L. No evidence of fetal DNA persistence in maternal plasma after pregnancy. Hum Genet. 2003;112(5–6):617–8.
PubMed
Google Scholar
Grati FR, Malvestiti F, Ferreira JC, Bajaj K, Gaetani E, Agrati C, Grimi B, Dulcetti F, Ruggeri AM, De Toffol S, et al. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med. 2014;16(8):620–4.
Article
PubMed
Google Scholar
McNamara CJ, Limone LA, Westover T, Miller RC. Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing. Obstet Gynecol. 2015;125(2):390–2.
Article
PubMed
Google Scholar
Wang Y, Chen Y, Tian F, Zhang J, Song Z, Wu Y, Han X, Hu W, Ma D, Cram D, et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem. 2014;60(1):251–9.
Article
PubMed
Google Scholar
Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, Craig JA, Chudova DI, Devers PL, Jones KW, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799–808.
Article
CAS
PubMed
Google Scholar
Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206(4):319. e311-319.
Article
PubMed
Google Scholar
Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, Zhang H, Wang W, Jong LF, Yuen OK, et al. 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(3):254–64.
Article
CAS
PubMed
Google Scholar
Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011;204(3):205. e201-211.
Article
CAS
PubMed
Google Scholar
Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206(4):322. e321-325.
Article
PubMed
Google Scholar
Liao C, Yin AH, Peng CF, Fu F, Yang JX, Li R, Chen YY, Luo DH, Zhang YL, Ou YM, et al. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proc Natl Acad Sci U S A. 2014;111(20):7415–20.
Article
CAS
PubMed
PubMed Central
Google Scholar
Vrachnis N, Vlachadis N, Creatsas G. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;371(6):578.
CAS
PubMed
Google Scholar
Yuan Y, Jiang F, Hua S, Du B, Hao Y, Ye L, Liu J, Feng K, Huang X, Yi X, et al. Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy. Clin Chem. 2013;59(5):846–9.
Article
CAS
PubMed
Google Scholar
Wang Y, Wen Z, Shen J, Cheng W, Li J, Qin X, Ma D, Shi Y. Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection. J Hum Genet. 2014;59(7):393–6.
Article
CAS
PubMed
Google Scholar
Barch MJKT, Spurbeck JL. The AGT cytogenetics laboratory manual. 3rd ed. New York: Lippincott-Raven; 1997.
Google Scholar
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60.
Article
CAS
PubMed
PubMed Central
Google Scholar
Langmead B, Trapnell C, Pop M, Salzberg SL. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol. 2009;10(3):R25.
Article
PubMed
PubMed Central
Google Scholar
Li R, Yu C, Li Y, Lam TW, Yiu SM, Kristiansen K, Wang J. SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics. 2009;25(15):1966–7.
Article
CAS
PubMed
Google Scholar
Quail MA, Smith M, Coupland P, Otto TD, Harris SR, Connor TR, Bertoni A, Swerdlow HP, Gu Y. A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics. 2012;13:341.
Article
CAS
PubMed
PubMed Central
Google Scholar
Boland JF, Chung CC, Roberson D, Mitchell J, Zhang X, Im KM, He J, Chanock SJ, Yeager M, Dean M. The new sequencer on the block: comparison of Life Technology’s Proton sequencer to an Illumina HiSeq for whole-exome sequencing. Hum Genet. 2013;132(10):1153–63.
Article
CAS
PubMed
PubMed Central
Google Scholar
Chen S, Li S, Xie W, Li X, Zhang C, Jiang H, Zheng J, Pan X, Zheng H, Liu JS, et al. Performance comparison between rapid sequencing platforms for ultra-low coverage sequencing strategy. PLoS One. 2014;9(3):e92192.
Article
PubMed
PubMed Central
Google Scholar
Henry GP, Britt DW, Evans MI. Screening advances and diagnostic choice: the problem of residual risk. Fetal Diagn Ther. 2008;23(4):308–15.
Article
PubMed
Google Scholar
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13(11):913–20.
Article
CAS
PubMed
Google Scholar
Song K, Musci TJ, Caughey AB. Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. J Matern Fetal Neonatal Med. 2013;26(12):1180–5.
Article
PubMed
PubMed Central
Google Scholar