Azmanov DN, Milachich TV, Zaharieva BM, Michailova GI, Dimitrova VG, Karagiozova ZH, et al. Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization. Eur J Obstet Gynecol Reprod Biol. 2007;131:127–31.
Suzuki N, Kamataki A, Yamaki J, Homma Y. Characterization of circulating DNA in healthy human plasma. Clin Chim Acta. 2008;387:55–8.
Faas BH, de Ligt J, Janssen I, Eggink AJ, Wijnberger LD, van Vugt JM, et al. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin Biol Ther. 2012;12:S19–26.
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.
Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, et al. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod. 2006;21:958–66.
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13:913–20.
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, 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. 2012;14:296–305.
Mazloom AR, Dzakula Z, Oeth P, Wang H, Jensen T, Tynan J, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013;33:591–7.
Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119:890–901.
Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, 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;207:137. e131–138.
Ashoor G, Syngelaki A, Wang E, Struble C, Oliphant A, Song K, et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol. 2013;41:21–5.
Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn. 2013;33:575–9.
Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, et al. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn. 2013;33:643–9.
Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370:799–808.
Rabinowitz M, Valenti E, Pettersen B, Sigurjonsson S, Hill M, Zimmermann B. Noninvasive aneuploidy detection by multiplexed amplification and sequencing of polymorphic Loci. Obstet Gynecol. 2014;123 Suppl 1:167S.
Hall MP, Hill M, Zimmermann B, Sigurjonsson S, Westemeyer M, Saucier J, et al. Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach. PLoS One. 2014;9:e96677.
Hooks J, Wolfberg AJ, Wang ET, Struble CA, Zahn J, Juneau K, et al. Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction. Prenat Diagn. 2014;34:496–9.
Futch T, Spinosa J, Bhatt S, de Feo E, Rava RP, Sehnert AJ. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn. 2013;33:569–74.
Porreco RP, Garite TJ, Maurel K, Marusiak B, Ehrich M, van den Boom D, 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. e361-365 e312.
Beamon CJ, Hardisty EE, Harris SC, Vora NL. A single center’s experience with noninvasive prenatal testing. Genet Med. 2014;16:681–7.
Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn. 2013;33:700–6.
Comas C, Echevarria M, Rodriguez MA, Prats P, Rodriguez I, Serra B. Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting. J Matern Fetal Neonatal Med. 2014;1–6.
Willems PJ, Dierickx H, Vandenakker E, Bekedam D, Segers N, Deboulle K, et al. The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands. Facts Views Vis Obgyn. 2014;6:7–12.
Herman A, Dreazen E, Herman AM, Batukan CE, Holzgreve W, Tercanli S. Bedside estimation of Down syndrome risk during first-trimester ultrasound screening. Ultrasound Obst Gynecol. 2002;20:468–75.
Team RDC. R: A language and environment for statistical computing. In. R Foundation for Statistical Computing: Vienna, Austria; 2008.
Fletcher RH, Fletcher SW. Clinical epidemiology: the essentials. 4th ed. Baltimore, MD: Lippincott Williams & Wilkins; 2005.
American College of O, Gynecologists Committee on G. Obstet Gynecol. 2012;120:1532–4.
Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based non-invasive prenatal aneuploidy testing. Am J Obst Gynecol. 2014;211:527. e1–e17.
Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abuhamad AZ. Uptake of noninvasive prenatal testing at a large academic referral center. Am J Obst Gynecol. 2014;211:651. e1–e7.
Pettit KE, Hull AD, Korty L, Jones MC, Pretorius DH. The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience. J Perinatol. 2014;34:750–3.
Louis-Jacques A, Burans C, Robinson S, Schofield E, Smulian J, Rochon M. Effect of commercial cell-free fetal DNA tests for aneuploidy screening on rates of invasive testing. Obstet Gynecol. 2014;123:1–67S.
Smith M, Lewis KM, Holmes A, Visootsak J. A case of false negative NIPT for Down syndrome-lessons learned. Case Reports Genetics. 2014;2014:823504.
Wang Y, Zhu J, Chen Y, Lu S, Chen B, Zhao X, et al. Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing. Prenat Diagn. 2013;33:1207–10.
Wang JC, Sahoo T, Schonberg S, Kopita KA, Ross L, Patek K, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med. 2015;17:234–6.
Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J. The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party. Prenat Diagn. 1999;19:817–26.
Ledbetter DH, Zachary JM, Simpson JL, Golbus MS, Pergament E, Jackson L, et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn. 1992;12:317–45.
Kalousek DK, Barrett IJ, McGillivray BC. Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet. 1989;44:338–43.
Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem. 2014;60:243–50.
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;105:16266–71.
Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One. 2011;6:e21791.
Yao H, Zhang L, Zhang H, Jiang F, Hu H, Chen F, et al. Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X. Prenat Diagn. 2012;32:1114–6.
Grati FR, Malvestiti F, Ferreira JC, Bajaj K, Gaetani E, Agrati C, et al. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med. 2014;16:620–4.
Srebniak MI, Diderich KE, Noomen P, Dijkman A, de Vries FA, van Opstal D. Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype. Ultrasound Obstet Gynecol. 2014;44:109–11.
Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014;124:210–8.
Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, et al. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med. 2013;15:729–32.
Choi H, Lau TK, Jiang FM, Chan MK, Zhang HY, Lo PS, et al. Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘false positive’ due to confined placental mosaicism. Prenat Diagn. 2013;33:198–200.
Pan M, Li FT, Li Y, Jiang FM, Li DZ, Lau TK, et al. Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenat Diagn. 2013;33:598–601.
Mao J, Wang T, Wang BJ, Liu YH, Li H, Zhang J, et al. Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy. Clin Chim Acta. 2014;433:190–3.
Gao Y, Stejskal 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;43:477–8.
Osborne CM, Hardisty E, Devers P, Kaiser-Rogers K, Hayden MA, Goodnight W, et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn. 2013;33:609–11.
Reddy UM, Page GP, Saade GR, Silver RM, Thorsten VR, Parker CB, et al. Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med. 2012;367:2185–93.