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Original Article

What would be missed in the first trimester if nuchal translucency measurement is replaced by cell free DNA foetal aneuploidy screening?

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Pages 498-501 | Received 07 Jun 2017, Accepted 03 Sep 2017, Published online: 12 Feb 2018

References

  • Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M, et al. 2015. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. European Journal of Human Genetics 23:1286–1293.
  • Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, et al. 2011. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. British Medical Journal 342:c7401.
  • Evans MI, Wapner RJ, Berkowitz RL. 2016. Noninvasive prenatal screening or advanced diagnostic testing: caveat emptor. American Journal of Obstetrics and Gynecology 215:298–305.
  • Fiorentino F, Caiazzo F, Napolitano S, Spizzichino L, Bono S, Sessa M, et al. 2011. Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases. Prenatal Diagnosis 31:1270–1282.
  • Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. 2017. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound in Obstetrics and Gynecology 50:302–314.
  • Grande M, Jansen FA, Blumenfeld YJ, Fisher A, Odibo AO, Haak MC, et al. 2015. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis. Ultrasound in Obstetrics and Gynecology 46:650–658.
  • Hartwig TS, Ambye L, Sørensen S, Jørgensen FS. 2017. Discordant non-invasive prenatal testing (NIPT)—a systematic review. Prenatal Diagnosis 37:527–539.
  • Huang J, Poon LC, Akolekar R, Choy KW, Leung TY, Nicolaides KH. 2014. Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH? Ultrasound in Obstetrics and Gynecology 43:620–624.
  • Hyett J, Mogra R, Sonek J. 2014. First trimester ultrasound assessment for fetal aneuploidy. Clinical Obstetrics and Gynecology 57:142–158.
  • Iwarsson E, Jacobsson B, Dagerhamn J, Davidson T, Bernabé E, Heibert Arnlind M. 2017. Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population – a systematic review and meta-analysis. Acta Obstetricia Et Gynecologica Scandinavica 96:7–18.
  • Khalil A, Mahmoodian N, Kulkarni A, Homfray T, Papageorghiou A, Bhide A, et al. 2015. Estimation of detection rates of aneuploidy in high-risk pregnancy using an approach based on nuchal translucency and non-invasive prenatal testing: a cohort study. Fetal Diagnosis and Therapy 38:254–261.
  • Maya I, Yacobson S, Kahana S, Yeshaya J, Tenne T, Agmon-Fishman I, et al. 2017. The cut-off value for normal nuchal translucency evaluated by chromosomal microarray analysis. Ultrasound in Obstetrics and Gynecology 50:332–335.
  • Nicolaides KH. 2011. Screening for fetal aneuploidies at 11 to 13 weeks. Prenatal Diagnosis 31:7–15.
  • Norton ME, Biggio JR, Kuller JA. Blackwell SC for the Society for Maternal-Fetal Medicine (SMFM). 2017. The role of ultrasound in women who undergo cell-free DNA screening. American Journal of Obstetrics and Gynecology 216:B2–B7.
  • Pan X, Zhang C, Li X, Chen S, Ge H, Zhang Y, et al. 2014. Non-invasive fetal sex determination by maternal plasma sequencing and application in X-linked disorder counseling. The Journal of Maternal-Fetal and Neonatal Medicine 27:1829–1833.
  • Rao RR, Valderramos SG, Silverman NS, Han CS, Platt LD. 2016. The value of the first trimester ultrasound in the era of cell free DNA screening. Prenatal Diagnosis 36:1192–1198.
  • Reiff ES, Little SE, Dobson L, Wilkins-Haug L, Bromley B. 2016. What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy? Prenatal Diagnosis 36:260–265.
  • Srebniak MI, de Wit MC, Diderich KE, Govaerts LC, Joosten M, Knapen MF, et al. 2016. Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT. Molecular Cytogenetics 9:69.
  • Srebniak MI, Govaerts LC, Diderich KE, Joosten M, de Vries FA, Galjaard RJ, et al. 2016. Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder? Genetics in Medicine 18:307–308.
  • Srebniak MI, Knapen MFCM, Polak M, Joosten M, Diderich KEM, Govaerts LCP, et al. 2017. The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies. Human Mutation 38:880–888.
  • Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH. 2014. Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagnosis and Therapy 35:174–184.
  • Straver R, Sistermans EA, Holstege H, Visser A, Oudejans CB, Reinders MJ. 2014. WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme. Nucleic Acids Research 42:e31.
  • Van Opstal D, de Vries F, Govaerts L, Boter M, Lont D, van Veen S, et al. 2015. Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies. Human Mutation 36:319–326.
  • Van Opstal D, Srebniak MI, Polak J, de Vries F, Govaerts LC, Joosten M, et al. 2016. False negative NIPT results: risk figures for chromosomes 13, 18 and 21 based on chorionic villi results in 5967 cases and literature review. PLoS One 11:e0146794.
  • Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. 2012. Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England Journal of Medicine 367:2175–2184.
  • Yang X, Li R, Fu F, Zhang Y, Li D, Liao C. 2017. Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype. The Journal of Maternal-Fetal and Neonatal Medicine 30:194–198.
  • Zhao C, Tynan J, Ehrich M, Hannum G, McCullough R, Saldivar JS, et al. 2015. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clinical Chemistry 61:608–616.

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