Preview

Медицинская генетика

Расширенный поиск

Неинвазивные пренатальные тесты: европейские и американские рекомендации по применению в клинической практике

Полный текст:

Аннотация

В обзоре проведен анализ рекомендаций Американского колледжа медицинской генетики и геномики (ACMG) и Европейского и Американского обществ генетики человека по неинвазивному пренатальному тестированию (НИПТ). Сделана попытка оценить НИПТ на хромосомную патологию плода с технологической точки зрения. Обсуждены перспективы расширения областей применения НИПТ в пренатальной диагностике микроделеционных синдромов и моногенной патологии и сопутствующие этические проблемы.

Об авторах

Е. Е. Баранова
ФГБОУ ДПО РМАНПО Минздрава России
Россия


М. С. Беленикин
ФГБОУ ВПО «Московский физико-технический институт (государственный университет)»
Россия


Л. А. Жученко
ФГБОУ ДПО РМАНПО Минздрава России
Россия


В. Л. Ижевская
ФГБНУ «Медико-генетический научный центр»
Россия


Список литературы

1. Жученко ЛА, Андреева ЕН, Калашникова ЕА. Основные итоги и современное состояние программы комбинированного пренатального скрининга 1 триместра беременности в Российской Федерации. Журнал акушерства и женских болезней. 2013. LXII(3):20-25.

2. Курцер МА, Гнетецкая ВА. Диагностика хромосомных анеуплодий с помощью неинвазивного пренатального теста. Акушерство и гинекология. 2015. 8:65-69.

3. Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997. 350(9076):485-7.

4. Benachi A and Costa JM. Non-invasive prenatal diagnosis of fetal aneuploidies. Lancet. 2007. 369(9560):440-2.

5. Dhallan R, Guo X, Emche S et al. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet. 2007. 369(9560):474-81.

6. Lo YM. and Chiu RW. Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet. 2007. 8(1):71-7.

7. Finning KM, Martin PG, Soothill PW, Avent ND. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion. 2002. 42(8):1079-85.

8. Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA. 2008. 105(42):16266-71.

9. Kinnings SL, Geis JA, Almasri E, et al. Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing. Prenat Diagn. 2015. 35(8):816-22.

10. Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013. 15(5):395-8.

11. Wataganara T, Chen AY, LeShane ES, et al. Cell-free fetal DNA levels in maternal plasma after elective first-trimester termination of pregnancy. Fertil Steril. 2004. 81(3):638-44.

12. Ashoor G, Syngelaki A, Poon LC, et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2012. 41(1):26-32.

13. Krishna I, Badell M, Loucks TL, et al. Adverse perinatal outcomes are more frequent in pregnancies with a low fetal fraction result on noninvasive prenatal testing. Prenat Diagn. 2016. 36(3):210-5.

14. Thurik FF, Lamain-de Ruiter M, Javadi A, et al. Absolute first trimester cell-free DNA levels and their associations with adverse pregnancy outcomes. Prenat Diagn. 2016. 36(12):1104-11.

15. Lim JH, Kim MH, Han YJ, et al. Cell-free fetal DNA and cell-free total DNA levels in spontaneous abortion with fetal chromosomal aneuploidy. PLoS One. 2013. 8(2):e56787.

16. Gregg AR, Skotko BG, Benkendorf JL et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016. 18(10):1056-65.

17. Smith M, Lewis KM, Holmes A, Visootsak J. A Case of False Negative NIPT for Down Syndrome-Lessons Learned. Case Rep Genet. 2014. 2014:823504.

18. Ashoor G, Syngelaki A, Wang E, et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol. 2013. 41(1):21-5.

19. Наследственные болезни: национальное руководство : краткое издание / под ред. Е.К. Гинтера, В.П. Пузырева. - М: ГЭОТАР-Медиа, 2017. - 464 с

20. Pan Q, Sun B, Huang X, et al. A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings. Mol Cytogenet. 2014. 7:48.

21. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 370(9):799-808.

22. Mennuti MT, Cherry AM, Morrissette JJ, Dugoff L. Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol. 2013. 209(5):415-9.

23. Wang JC, Sahoo T, Schonberg S, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med. 2015. 17(3):234-6.

24. Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014. 211(5):527.e1-527.e17.

25. Zhang H, Gao Y, Jiang F, et al. Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies. Ultrasound Obstet Gynecol. 2015 May;45(5):530-8.

26. Colosi E, D’Ambrosio V, and Periti E. First trimester contingent screening for trisomies 21,18,13: is this model cost efficient and feasible in public health system? J Matern Fetal Neonatal Med. 2017 Jan 4:1-6.

27. Gil MM, Revello R, Poon LC, et al. Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol. 2016 Jan; 47(1)45-52.

28. Sonek JD. and Cuckle HS. What will be the role of first-trimester ultrasound if cell-free DNA screening for aneuploidy becomes routine? Ultrasound Obstet Gynecol. 2014. 44(6):621-30.

29. Wang L, Meng Q, Tang X, et al. Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Taiwan J Obstet Gynecol. 2015. 54(5):527-31.

30. Vanstone M, King C, de Vrijer B, Nisker J. Non-invasive prenatal testing: ethics and policy considerations. J Obstet Gynaecol Can. 2014. 36(6):515-26.

31. Медведев МВ, Алтынник НА. Основы ультразвукового скрининга в 11-14 недель беременности: практическое пособие для врачей. 2009. 2-е изд., доп. - М.: Реал Тайм: 96 с.

32. Cheung SW, Shaw CA, Yu W, et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005. 7(6):422-32.

33. Munne S. Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization. Curr Genomics. 2012. 13(6):463-70.

34. Liu H, Gao Y, Hu Z, et al. Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA. PLoS One. 2016. 11(7):e0159233.

35. Jensen TJ, Dzakula Z, Deciu C, et al. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem. 2012. 58(7):1148-51.

36. Srinivasan A, Bianchi DW, Huang H, et al. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet. 2013 Feb 7;92(2):167-76.

37. Yu SC, Jiang P, Choy KW, et al., Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One. 2013 Apr 17;8(4):e60968.

38. Brison N, Van Den Bogaert K, Dehaspe L, et al. Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies. Genet Med. 2017 Mar;19(3):306-313.

39. Lun FM, Chiu RW, Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem. 2008. 54(10):1664-72.

40. Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem. 2000. 46(2):301-2.

41. Saito H, Sekizawa A, Morimoto T. et al. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet. 2000. 356(9236):1170.

42. Gonzalez-Gonzalez MC, Trujillo MJ, Rodriguez de Alba M, et al. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat Diagn. 2003. 23(3):232-4.

43. van den Oever JM, Bijlsma EK, Feenstra I, et al. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma. Prenat Diagn. 2015. 35(10):945-9.

44. Bustamante-Aragones A, Trujillo-Tiebas MJ, Gallego-Merlo J, et al., Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study. Eur J Neurol. 2008. 15(12):1338-44.

45. Chiu RW, Lau TK, Leung TN, et al. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet. 2002. 360(9338):998-1000.

46. Ding C., Chiu RW, Lau TK, et al. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci USA. 2004. 101(29):10762-7.

47. Chang MY, Kim AR, Kim MY, et al. Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital. Sci Rep. 2016 Dec 7;6:37153.

48. Dondorp W, de Wert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015. 23(11):1438-50.

49. Van den Berg M, Timmermans DRM, ten Kate LP et al. Are pregnant women making informed choices about prenatal screening? Genet. Med. 2005. V. 7. P.332-337

50. Stapleton G. Qualifying choice: ethical reflection on the scope of prenatal screening. Med Health Care Philos. 2016 Sep 8.

51. De Jong A, Maya I, and van Lith JM. Prenatal screening: current practice, new developments, ethical challenges. Bioethics. 2015. 29(1):1-8.

52. Hill M, Johnson JA, Langlois S, et al. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. Eur J Hum Genet. 2016. 24(7):968-75.

53. Neyt M, Hulstaert F, and Gyselaers W. Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis. BMJ Open. 2014. 4(11):e005922.

54. Сухих ГТ, Трофимов ДЮ, Барков ИЮ и др. Неинвазивный пренатальный ДНК-скрининг анеуплоидий плода по крови матери методом высокопроизводительного секвенирования (Клинические рекомендации). Акушерство и гинекология, 2016. №6.


Для цитирования:


Баранова Е.Е., Беленикин М.С., Жученко Л.А., Ижевская В.Л. Неинвазивные пренатальные тесты: европейские и американские рекомендации по применению в клинической практике. Медицинская генетика. 2017;16(8):3-10.

For citation:


Baranova E.E., Belenikin M.S., Zhuchenko L.A., Izhevskaya V.L. Non-invasive prenatal tests: european and american recomendations. Medical Genetics. 2017;16(8):3-10. (In Russ.)

Просмотров: 1137


Creative Commons License
Контент доступен под лицензией Creative Commons Attribution 4.0 License.


ISSN 2073-7998 (Print)