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Original Articles

Prospective clinical evaluation of Momguard non-invasive prenatal test in 1011 Korean high-risk pregnant women

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References

  • Bianchi DW, Chudova D, Sehnert AJ, Bhatt S, Murray K, Prosen TL, et al. 2015. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA 314:162–169.
  • Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. 2012. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics & Gynecology 119:890–901.
  • Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. 2013. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenatal Diagnosis 33:667–674.
  • Chudova DI, Sehnert AJ, Bianchi DW. 2016. Copy-number variation and false positive prenatal screening results. New England Journal of Medicine 375:97–98.
  • Derrien T, Estellé J, Marco Sola S, Knowles DG, Raineri E, Guigó R, Ribeca P. 2012. Fast computation and applications of genome mappability. PLOS One 7:e30377.
  • Eiben B, Krapp M, Borth H, Kutur N, Kreiselmaier P, Glaubitz R, et al. 2015. Single nucleotide polymorphism-based analysis of cell-free fetal DNA in 3000 cases from Germany and Austria. Ultrasound International Open 1:E8–E11.
  • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. 2008. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proceedings of the National Academy of Sciences of the United States of America 105:16266–16271.
  • Hartwig TS, Ambye L, Sorensen S, Jorgensen FS. 2017. Discordant non-invasive prenatal testing (NIPT) – a systematic review. Prenatal Diagnosis 37:527–539.
  • Hu H-J, Kwon Y-J, Oh M, Kim J, Cho D-Y, Seo D-H. 2015. Evaluating the results of the Momguard noninvasive prenatal test. Journal of Genetic Medicine 12:96–99.
  • Jensen TJ, Zwiefelhofer T, Tim RC, Dzakula Z, Kim SK, Mazloom AR, et al. 2013. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLOS One 8:e57381.
  • Jeon YJ, Zhou Y, Li Y, Guo Q, Chen J, Quan S, et al. 2014. The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform. PLOS One 9:e110240.
  • Kim S, Jung H, Han SH, Lee S, Kwon J, Kim MG, et al. 2016. An adaptive detection method for fetal chromosomal aneuploidy using cell-free DNA from 447 Korean women. BMC Medical Genomics 9:61.
  • Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, et al. 2014. 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 in Obstetrics & Gynecology 43:254–264.
  • Lebo RV, Novak RW, Wolfe K, Michelson M, Robinson H, Mancuso MS. 2015. Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes. Journal of Translational Medicine 13:260.
  • Lee MY, Cho DY, Won HS, Hwang AR, Jeong B, Kim J, Oh M. 2015. Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea. Obstetrics & Gynecology Science 58:340–345.
  • Mao J, Wang T, Wang BJ, Liu YH, Li H, Zhang J, et al. 2014. Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy. Clinica Chimica Acta 433:190–193.
  • McCullough RM, Almasri EA, Guan X, Geis JA, Hicks SC, Mazloom AR, et al. 2014. Non-invasive prenatal chromosomal aneuploidy testing – clinical experience: 100,000 clinical samples. PLoS One 9:e109173.
  • Niles KM, Murji A, Chitayat D. 2018. Prolonged duration of persistent cell free fetal DNA from a vanishing twin. Ultrasound in Obstetrics & Gynecology 52:547.
  • Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, et al. 2012. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. American Journal of Obstetrics and Gynecology 207:137e1–137e8.
  • Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, et al. 2012. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genetics in Medicine 14:296–305.
  • Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. 2014. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clinical Chemistry 60:243–250.
  • Willems PJ, Dierickx H, Vandenakker E, Bekedam D, Segers N, Deboulle K, Vereecken A. 2014. The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands. Facts, Views & Vision in ObGyn 6:7–12.
  • Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, et al. 2015. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound in Obstetrics & Gynecology 45:530–538.
  • Zhou X, Sui L, Xu Y, Song Y, Qi Q, Zhang J, et al. 2017. Contribution of maternal copy number variations to false-positive fetal trisomies detected by noninvasive prenatal testing. Prenatal Diagnosis 37:318–322.

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