Test non invasif et anomalies chromosomiques : jusqu'où faut-il aller ?

详细信息    查看全文

• 作者：L. El Khattabi ; J.-M. Dupont
• 关键词：Noninvasive prenatal testing ; Fetal circulating DNA ; Massively parallel sequencing ; Aneuploidy ; Sex chromosome anomalies
• 刊名：Revue de m¨¦decine p¨¦rinatale
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：8
• 期：1
• 页码：9-17
• 全文大小：178 KB
• 参考文献：1.ACOG Committee on Practice Bulletins (2007) ACOG Practice Bulletin n° 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 109:217–27CrossRef
  2.Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27:1–7CrossRef PubMed
  3.Chiu RW, Chan KC, Gao Y, et al (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A 105:20458–63CrossRef PubMed PubMedCentral
  4.Chiu RW, Akolekar R, Zheng YW, et al (2011) Noninvasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 342:c7401CrossRef PubMed PubMedCentral
  5.Ehrich M, Deciu C, Zwiefelhofer T, et al (2011) Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 204:205e1–11CrossRef
  6.Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al (2011) DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 13:913–20CrossRef PubMed
  7.Sparks AB, Struble CA, Wang ET, et al (2012) Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 206:319e1–9
  8.Bianchi DW, Platt LD, Goldberg JD, et al (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 119:890–901CrossRef PubMed
  9.Ashoor G, Syngelaki A, Wagner M, et al (2012) Chromosomeselective sequencing of maternal plasma cell-free DNA for firsttrimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 206:322e1–5
  10.Norton ME, Brar H, Weiss J, et al (2012) Noninvasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 207:137e1–8
  11.Sehnert AJ, Rhees B, Comstock D, et al (2011) Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 57:1042–9CrossRef PubMed
  12.Jiang F, Ren J, Chen F, et al (2012) Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics 5:57CrossRef PubMed PubMedCentral
  13.Lau TK, Chen F, Pan X, et al (2012) Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med 25:1370–4CrossRef PubMed
  14.Peters D, Chu T, Yatsenko SA, et al (2011) Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N Engl J Med 365:1847–8CrossRef PubMed PubMedCentral
  15.Jensen TJ, Dzakula Z, Deciu C, et al (2012) Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem 58:1148–51CrossRef PubMed
  16.Dan S, Chen F, Choy KW, et al (2012) Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing. PLoS One 7:e27835CrossRef PubMed PubMedCentral
  17.Gil MM, Quezada MS, Revello R, et al (2015) Analysis of cellfree DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 45:249–66CrossRef PubMed
  18.Kagan KO, Wright D, Valencia C, et al (2008) Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 23:1968–75CrossRef PubMed
  19.Wright D, Syngelaki A, Bradbury I, et al (2014) First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 35:118–26CrossRef PubMed
  20.Curnow KJ, Wilkins-Haug L, Ryan A, et al (2015) Detection of triploid, molar, and vanishing twin pregnancies by a singlenucleotide polymorphism-based noninvasive prenatal test. Am J Obstet Gynecol 212:79e1–9
  21.Chu T, Yeniterzi S, Rajkovic A, et al (2014) High-resolution noninvasive detection of a fetal microdeletion using the GCREM algorithm. Prenat Diagn 34:469–77CrossRef PubMed PubMedCentral
  22.Wapner RJ, Babiarz JE, Levy B, et al (2015) Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol 212:332e1–9
  23.Zhao C, Tynan J, Ehrich M, et al (2015) Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem 61:608–16CrossRef PubMed
  24.Yu SC, Jiang P, Choy KW, et al (2013) Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One 8: e60968CrossRef PubMed PubMedCentral
  25.Srinivasan A, Bianchi DW, Huang H, et al (2013) Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 92:167–76CrossRef PubMed PubMedCentral
  26.Fan HC, Blumenfeld YJ, Chitkara U, et al (2008) Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 105:16266–71CrossRef PubMed PubMedCentral
  27.Benn P, Cuckle H (2014) Theoretical performance of noninvasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. Prenat Diagn 34:778–83CrossRef PubMed
  28.Ashoor G, Syngelaki A, Poon LC, et al (2013) Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 41:26–32CrossRef PubMed
  29.Rava RP, Srinivasan A, Sehnert AJ, et al (2014) Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem 60:243–50CrossRef PubMed
  30.Hahnemann JM, Vejerslev LO (1997) Accuracy of cytogenetic findings on chorionic villus sampling (CVS) — diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986–1992. Prenat Diagn 17:801–20CrossRef PubMed
  31.Russell LM, Strike P, Browne CE, et al (2007) X chromosome loss and ageing. Cytogenet Genome Res 116:181–5CrossRef PubMed
  32.McNamara CJ, Limone LA, Westover T, et al (2015) Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing. Obstet Gynecol 125:390–2CrossRef PubMed
  33.Bianchi DW, Parsa S, Bhatt S, et al (2015) Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol 125:375–82CrossRef PubMed
  34.Wang Y, Chen Y, Tian F, et al (2014) Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 60:251–9CrossRef PubMed
  35.Wang S, Huang S, Ma L, et al (2015) Maternal X chromosome copy number variations are associated with discordant fetal sex chromosome aneuploidies detected by noninvasive prenatal testing. Clin Chim Acta 444:113–6CrossRef PubMed
  36.Osborne CM, Hardisty E, Devers P, et al (2013) Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn 33:609–11CrossRef PubMed
  37.Amant F, Verheecke M, Wlodarska I, et al (2015) Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing. JAMA Oncol 1:814–9CrossRef PubMed
  38.Wapner RJ, Martin CL, Levy B, et al (2012) Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 367:2175–84CrossRef PubMed PubMedCentral
  
• 作者单位：L. El Khattabi (1)
  J.-M. Dupont (1)
  
  1. Service de cytogénétique pré- et postnatale, hôpital Cochin, bâtiment Jean-Dausset, 27, rue du Faubourg-Saint-Jacques, F-75014, Paris, France
  
• 刊物主题：Obstetrics/Perinatology; Pediatrics; Imaging / Radiology; Intensive / Critical Care Medicine;
• 出版者：Springer Paris
• ISSN：1965-0841

文摘

The recent discovery of circulating free fetal DNA in maternal blood followed by major technological advances in genome sequencing led to a significant increase in screening efficiency for trisomies 13, 18, and 21. However, we are witnessing a general trend to screen for more abnormalities including microdeletions. This article relies on published data to analyze true analytical performance of these tests, and emphasizes on technical and biological issues to help understand actual recommendations for a focused use of noninvasive screening.