참고문헌
- Hwang D. The recent trend of prenatal screening. J Genet Med 2008;5:7-14.
- Kim S, Kim YH, Min WK. Prenatal serum marker screening in Korea: survey results. Korean J Lab Med 2007;27:28-33. https://doi.org/10.3343/kjlm.2007.27.1.28
- Yi DY, Jung B, Kang MS, Huh JY, Paek JY, Cha DH, et al. The evaluation of integrated test as an antenatal screening test for down's syndrome in Korea. Lab Med Online 2011;1:10-8. https://doi.org/10.3343/lmo.2011.1.1.3
-
Ghaffari SR, Tahmasebpour AR, Jamal A, Hantoushzadeh S, Eslamian L, Marsoosi V, et al. First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free
${\beta}$ -hCG and PAPP-A: a 5-year prospective study. Ultrasound Obstet Gynecol 2012;39:528-34. https://doi.org/10.1002/uog.10051 - Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, et al. Noninvasive 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;43:254-64. https://doi.org/10.1002/uog.13277
- Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-7. https://doi.org/10.1016/S0140-6736(97)02174-0
- Jensen TJ, Zwiefelhofer T, Tim RC, Dzakula Z, Kim SK, Mazloom AR, et al. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLoS One 2013;8:e57381. https://doi.org/10.1371/journal.pone.0057381
- Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012;32:3-9. https://doi.org/10.1002/pd.2922
- Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011;57:1042-9. https://doi.org/10.1373/clinchem.2011.165910
- 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. https://doi.org/10.1002/pd.4159
- Liao GJ, Gronowski AM, Zhao Z. Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. Clin Chim Acta 2014;428:44-50. https://doi.org/10.1016/j.cca.2013.10.007
- Yu SC, Chan KC, Zheng YW, Jiang P, Liao GJ, Sun H, et al. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc Natl Acad Sci U S A 2014;111:8583-8. https://doi.org/10.1073/pnas.1406103111
- Shea JL, Diamandis EP, Hoffman B, Lo YM, Canick J, van den Boom D. A new era in prenatal diagnosis: the use of cell-free fetal DNA in maternal circulation for detection of chromosomal aneuploidies. Clin Chem 2013;59:1151-9. https://doi.org/10.1373/clinchem.2012.201996
- Yang JI. Clinical application of non-invasive prenatal testing using cell free fetal DNA. J Korean Med Assoc 2014;57:771-9. https://doi.org/10.5124/jkma.2014.57.9.771
- Morain S, Greene MF, Mello MM. A new era in noninvasive prenatal testing. N Engl J Med 2013;369:499-501. https://doi.org/10.1056/NEJMp1304843
- Lee MY, Cho DY, Won HS, Hwang AR, Jeong B, Kim J, et al. Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea. Obstet Gynecol Sci 2015;58:340-5. https://doi.org/10.5468/ogs.2015.58.5.340
- Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890-901. https://doi.org/10.1097/AOG.0b013e31824fb482
- Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013;42:15-33.