Display options
Cite
Kleinfinger P, Lohmann L, Luscan A, et al. Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies. J Clin Med. 2020;9(8)doi: 10.3390/jcm9082466.
Kleinfinger, P., Lohmann, L., Luscan, A., Trost, D., Bidat, L., Debarge, V., Castaigne, V., Senat, M. V., Brechard, M. P., Guilbaud, L., Le Guyader, G., Satre, V., Laurichesse Delmas, H., Lallaoui, H., Manca-Pellissier, M. C., Boughalem, A., Valduga, M., Hodeib, F., Benachi, A., & Costa, J. M. (2020). Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies. Journal of clinical medicine, 9(8), . https://doi.org/10.3390/jcm9082466
Kleinfinger, Pascale, et al. "Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies." Journal of clinical medicine vol. 9,8 (2020). doi: https://doi.org/10.3390/jcm9082466
Kleinfinger P, Lohmann L, Luscan A, Trost D, Bidat L, Debarge V, Castaigne V, Senat MV, Brechard MP, Guilbaud L, Le Guyader G, Satre V, Laurichesse Delmas H, Lallaoui H, Manca-Pellissier MC, Boughalem A, Valduga M, Hodeib F, Benachi A, Costa JM. Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies. J Clin Med. 2020 Aug 01;9(8). doi: 10.3390/jcm9082466. PMID: 32752152; PMCID: PMC7464024.
Copy Download .nbib Format: NLM
Share it on

J Clin Med. 2020 Aug 01;9(8). doi: 10.3390/jcm9082466.

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.

Journal of clinical medicine

Pascale Kleinfinger, Laurence Lohmann, Armelle Luscan, Detlef Trost, Laurent Bidat, Véronique Debarge, Vanina Castaigne, Marie-Victoire Senat, Marie-Pierre Brechard, Lucie Guilbaud, Gwenaël Le Guyader, Véronique Satre, Hélène Laurichesse Delmas, Hakima Lallaoui, Marie-Christine Manca-Pellissier, Aicha Boughalem, Mylene Valduga, Farah Hodeib, Alexandra Benachi, Jean Marc Costa

Affiliations

  1. Laboratoire CERBA, 7/11 Rue de l'Équerre, 95310 Saint-Ouen-l'Aumône, France.
  2. Gynécologie-Obstétrique, Centre Hospitalier René Dubos, 6 av de l'Ile de France, 95300 Pontoise, France.
  3. Gynécologie-Obstétrique, CHU Lille, 2 av Oscar Labret, 59000 Lille, France.
  4. Hopital intercommunal de Creteil, 40 Avenue De Verdun, 94000 Creteil, France.
  5. Medical Department, Université Paris Saclay, 63 Rue Gabriel Péri, 94270 Le Kremlin-Bicêtre, France.
  6. Gynécologie-Obstétrique, Hôpital Bicêtre, 78 Rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France.
  7. Cytogénétique, Hopital Saint Joseph, 26 Boulevard de Louvain, 13008 Marseille, France.
  8. Service de Médecine Foetale, Hopital Armand Trousseau, APHP Sorbonne Université hôpital Trousseau, 26 Avenue du Dr Arnold Netter, 75012 Paris, France.
  9. Génétique médicale, CHU de Poitiers, 2 rue de la Milétrie, CEDEX, CS 90577, 86021 Poitiers, France.
  10. Génétique Chromosomique, CHU Grenoble Alpes, Avenue Maquis du Grésivaudan, 38700 La Tronche, France.
  11. INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Univ. Grenoble Alpes, Avenue Maquis du Grésivaudan, 38700 La Tronche, France.
  12. Gynécologie-Obstétrique, CHU Clermont Ferrand, 1 Place Lucie et Raymond Aubrac, 63003 Clermont Ferrand, France.
  13. Cylab, 6 Rue des sports BP 60348, CEDEX 1, 17001 La Rochelle, France.
  14. Centre de diagnostic prénatal, Hôpital des enfants de la Timone, 264 Rue Saint-Pierre, 13005 Marseille, France.
  15. Gynécologie-Obstétrique, Hôpital Antoine Béclère, AP-HP, 157 Rue de la Porte de Trivaux, 92140 Clamart, France.

PMID: 32752152 PMCID: PMC7464024 DOI: 10.3390/jcm9082466

Abstract

Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay performances were determined using Cohort A, which consisted of 192 biobanked plasma samples-42 with ACAs, and 150 without. The rate of additional invasive diagnostic procedures was determined using Cohort B, which consisted of 3097 pregnant women referred for routine NIPT. Of the 192 samples in Cohort A, there were four initial test failures and six discordant calls; overall sensitivity was 88.1% (37/42; CI 75.00-94.81) and specificity was 99.3% (145/146; CI 96.22-99.88). In Cohort B, there were 90 first-pass failures (2.9%). The rate of positive results indicating an anomaly was 1.2% (36/3007) and 0.57% (17/3007) when limited to significant unbalanced chromosomal anomalies and trisomies 8, 9, 12, 14, 15, 16, and 22. These results show that genome-wide NIPT can screen for ACAs with an acceptable sensitivity and a small increase in invasive testing, particularly for women with increased risk following maternal serum screening and by limiting screening to structural anomalies and the most clinically meaningful trisomies.

Keywords: VeriSeq NIPT Solution v2; atypical chromosomal anomalies; deletion; duplication; genome-wide screening strategy; non-invasive prenatal test; positive predictive value; rare autosomal aneuploidy; sensitivity; specificity; structural unbalanced anomalies

References

  1. Proc Natl Acad Sci U S A. 2014 May 20;111(20):7415-20 - PubMed
  2. Clin Chem. 2010 Aug;56(8):1279-86 - PubMed
  3. Ultrasound Obstet Gynecol. 2018 Apr;51(4):487-492 - PubMed
  4. Genet Med. 2017 Feb;19(2):169-175 - PubMed
  5. Nat Med. 2012 Nov;18(11):1630-8 - PubMed
  6. J Matern Fetal Neonatal Med. 2019 Nov 13;:1-10 - PubMed
  7. BMC Med Genomics. 2012 Dec 01;5:57 - PubMed
  8. Genet Med. 2019 Sep;21(9):1998-2006 - PubMed
  9. Fetal Diagn Ther. 2014;36(4):282-6 - PubMed
  10. Prenat Diagn. 2013 Jul;33(7):643-9 - PubMed
  11. Prenat Diagn. 2018 Sep;38(10):765-771 - PubMed
  12. Sci Transl Med. 2010 Dec 8;2(61):61ra91 - PubMed
  13. Prenat Diagn. 2017 Jun;37(6):593-601 - PubMed
  14. Ultrasound Obstet Gynecol. 2019 Oct;54(4):442-451 - PubMed
  15. Sci Transl Med. 2017 Aug 30;9(405): - PubMed
  16. Ultrasound Obstet Gynecol. 2017 Sep;50(3):302-314 - PubMed
  17. Ultrasound Obstet Gynecol. 2015 Jan;45(1):16-26 - PubMed
  18. Ultrasound Obstet Gynecol. 2019 Jan;53(1):129-130 - PubMed
  19. Genet Med. 2018 Nov;20(11):1312-1323 - PubMed
  20. Reprod Sci. 2014 May;21(5):594-600 - PubMed
  21. Acta Obstet Gynecol Scand. 2020 Jun;99(6):722-730 - PubMed
  22. Eur J Med Genet. 2020 Jan;63(1):103616 - PubMed
  23. J Perinat Med. 2018 Jul 26;46(5):465-488 - PubMed
  24. Clin Genet. 2018 Feb;93(2):293-300 - PubMed
  25. Mol Cytogenet. 2019 Jun 20;12:29 - PubMed
  26. Obstet Gynecol. 2014 Aug;124(2 Pt 1):210-8 - PubMed
  27. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11 - PubMed
  28. Eur J Hum Genet. 2015 Oct;23(10):1286-93 - PubMed
  29. N Engl J Med. 2018 Aug 2;379(5):464-473 - PubMed
  30. Prenat Diagn. 2018 Sep;38(10):755-764 - PubMed
  31. J Clin Med. 2014 Jul 24;3(3):809-37 - PubMed
  32. PLoS One. 2013;8(3):e57381 - PubMed
  33. Prenat Diagn. 2014 Feb;34(2):185-91 - PubMed
  34. Genet Med. 2020 Feb;22(2):309-316 - PubMed
  35. Clin Chem. 2011 Jul;57(7):1042-9 - PubMed
  36. Am J Hum Genet. 2019 Dec 5;105(6):1091-1101 - PubMed
  37. Genet Med. 2017 Dec;19(12):1332-1337 - PubMed
  38. Prenat Diagn. 2012 Dec;32(13):1233-41 - PubMed
  39. Genet Med. 2018 Apr;20(5):480-485 - PubMed
  40. Prenat Diagn. 2015 Jun;35(6):612-9 - PubMed
  41. Prenat Diagn. 2015 Oct;35(10):999-1004 - PubMed
  42. Am J Obstet Gynecol. 2016 Jun;214(6):727.e1-6 - PubMed
  43. BJOG. 2003 Apr;110(4):392-9 - PubMed
  44. Prenat Diagn. 2013 Jun;33(6):591-7 - PubMed

Publication Types