참고문헌
- Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45:249-66. https://doi.org/10.1002/uog.14791
- Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Eng J Med 2015;372:1589-97. https://doi.org/10.1056/NEJMoa1407349
- Vora NL, Robinson S, Hardisty EE, Stamilio DM. Utility of ultrasound examination at 10-14 weeks prior to cell-free DNA screening for fetal aneuploidy. Ultrasound Obstet Gynecol 2017;49:465-9. https://doi.org/10.1002/uog.15995
- Reiff ES, Little SE, Dobson L, Wilkins-Haug L, Bromley B. What is the role of the 11- to 14-week ultrasound in women with negative cellfree DNA screening for aneuploidy? Prenat Diagn 2016;36,:260-5. https://doi.org/10.1002/pd.4774
- 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 Obstet Gynecol 2014;211:651.e1-7. https://doi.org/10.1016/j.ajog.2014.06.038
- Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abuhamad AZ. Use of the combined first-trimester screen in high-and low-risk patient populations after introduction of noninvasive prenatal testing. J Ultrasound Med 2015;34:1423-8. https://doi.org/10.7863/ultra.34.8.1423
- Warsof SL, Larion S, Abuhamad AZ. Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenat Diagn 2015; 35:972-9. https://doi.org/10.1002/pd.4601
- Norton ME, Jelliffe-Pawlowski LL, Currier RJ. Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstet Gynecol 2014;124:979-86. https://doi.org/10.1097/AOG.0000000000000452
- Committee on Practice Bulletins-Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. Practice bulletin no. 163: screening for fetal aneuploidy. Obstet Gynecol 2016;127:e123-37. https://doi.org/10.1097/AOG.0000000000001406
- Society for Maternal-Fetal Medicine (SMFM), Norton ME, Biggio JR, Kuller JA, Blackwell SC. The role of ultrasound in women who undergo cell-free DNA screening. Am J Obstet Gynecol 2017;216:B2-7. https://doi.org/10.1016/j.ajog.2017.01.005
- American College of Obstetricians and Gynecologists. Committee opinion no. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol 2015;126:e31-7. https://doi.org/10.1097/AOG.0000000000001051
- Beulen L, Faas BHW, Feenstra I, Van Vugt JMG, Bekker MN. Clinical utility of non-invasive testing in pregnancies with ultrasound anomalies. Ultrasound Obstet Gynecol 2017;49:721-8. https://doi.org/10.1002/uog.17228
- Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175-84. https://doi.org/10.1056/NEJMoa1203382
- Khalil A, Mahmoodian N, Kulkarni A, Homfray T, Papageorghiou A, Bhide A, et al. Estimation of detection rates of aneuploidy in highrisk pregnancy using an approach based on nuchal translucency and non-invasive prenatal testing: a cohort study. Fetal Diagn Ther 2015; 38:254-61. https://doi.org/10.1159/000381182
- Benachi A, Letourneau A, Kleinfinger P, Senat MV, Gautier E, Favre R, et al.; Collaborative SEquencage a Haut Debit et Aneuploidies (SEHDA) Study Group. Cell-free DNA analysis in maternal plasma in cases of fetal abnormalities detected on ultrasound examination. Obstet Gynecol 2015;125:1330-7. https://doi.org/10.1097/AOG.0000000000000874
- Salomon LJ, Alfirevic Z, Bilardo CM, Chalouhi GE, Ghi T, Kagan KO, et al. ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2013;41:102-13. https://doi.org/10.1002/uog.12342
- Chung JH, Yang JH, Song MJ, Cho JY, Lee YH, Park SY, et al. The distribution of fetal nuchal translucency thickness in normal Korean fetuses. J Korean Med Sci 2004;19:32-6. https://doi.org/10.3346/jkms.2004.19.1.32
- Norton ME, Rink BD. Genetics and prenatal genetic testing. In: Callen PW, Norton ME, Scoutt LM, Feldstein VA, eds. Callen's ultrasonography in obstetrics and gynecology. 6th ed. Philadelphia: Elsevier, 2017; 43.
- Cunningham FG, Leveno KJ, Bloom SL, Dashe JS, Hoffman BL, Casey BM, et al. Williams obstetrics. 25th ed. New York: McGraw-Hill Education, 2018. p. 182-224.
- Committee on Genetics and the Society for Maternal-Fetal Medicine. Committee opinion no.682: microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol 2016;128:e262-8. https://doi.org/10.1097/AOG.0000000000001817
- Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn 2012;32:986-95. https://doi.org/10.1002/pd.3943
- Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ, et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol 2013;41:610-20. https://doi.org/10.1002/uog.12464
- Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol 2013;41:247-61. https://doi.org/10.1002/uog.12364
- Committee on Practice Bulletins-Obstetrics and the American Institute of Ultrasound in Medicine. Practice bulletin no. 175: ultrasound in pregnancy. Obstet Gynecol 2016;128:e241-56. https://doi.org/10.1097/AOG.0000000000001815