Noninvasive DNA diagnostics in reproductive medicine
https://doi.org/10.1234/XXXX-XXXX-2015-10-3-13
Abstract
Currently, diagnostic procedures that do not require invasive intervention, are very popular. As a part of modern prenatal diagnosis these methods allow to eliminate the risk for the mother’s and fetus health. The current molecular genetic methods in the field of non-invasive prenatal diagnosis are discussed in the review. Special attention is paid to the possibility of using the developed methods in clinical practice now and in the near future.
Keywords
внеклеточная ДНК плода,
неинвазивная пренатальная генетическая диагностика,
неинвазивная преимплантационная генетическая диагностика,
определение пола плода,
резус-фактор плода,
анеуплоидия,
cell-free DNA,
non-invasive prenatal genetic diagnosis,
non-invasive preimplantation genetic diagnosis,
fetal sex determination,
rhesus D,
aneuploidy
About the Authors
D. I. Zhigalina
National Research Tomsk State University
Russian Federation
Russian Federation
N. A. Skryabin
National Research Tomsk State University; Research Institute of Medical Genetics
Russian Federation
Russian Federation
I. N. Lebedev
National Research Tomsk State University; Research Institute of Medical Genetics
Russian Federation
Russian Federation
References
1. Баранов В.С. Проблемы пренатальной диагностики наследственных болезней и возможные пути их коррекции // Биополимеры и клетка. - 1990. - Т. 6, № 1. - С. 46.
2. Баранов В.С., Кузнецова Т.В. Пренатальная диагностика в акушерстве: современное состояние, методы, перспективы. - СПб.: Изд-во Н-Л (ООО), 2003.
3. Горелов П., Балацкий А. Количественное определение ДНК в кровотоке матери на амплификаторе qtower 2.2. // Методология (аналитика). - 2013. - Т. 8, № 1. - С. 6-8.
4. Золотухина Т.В., Шилова Н.В. Использование бессортироовочных методов сепарации клеток плода из крови беременных женщин в целях неинвазивной пренатальной диагностики хромосомных болезней. Информационное письмо № 17. - 2001. - НПЦ ЭМП, тираж 100 экз.
5. Малышева О.В., Баранов В.С. Неинвазивная пренатальная диагностика. Проблемы, подходы и перспективы // Журнал акушерства и женских болезней. - 2012. - Т. LXI, № 3. - С. 83-93.
6. Маркелова А.Н., Тюмина О.В., Тороповский А.Н. Новый подход к ведению беременных женщин с резус-отрицательной кровью с ранних сроков беременности // Medical sciences. - 2011. - № 11. - С. 330-332.
7. Михайлов А.В. Внутриматочные вмешательства под ультразвуковым контролем во время беременности // Клиническое руководство по ультразвуковой диагностике. - М.: ВИДАР, 1996. - Т. 2. - С. 280-302.
8. Скрябин Н.А., Лебедев И.Н., Артюхова В.Г. и др. Молекулярное кариотипирование по внеклеточной ДНК из жидкости бластоцеля как основа неинвазивного преимплантационного генетического скрининга анеуплоидий // Генетика. - В печати.
9. Токарева А.Г., Лебедев И.Н., Назаренко С.А. Концентрация циркулирующей и связанной с клеточной поверхностью внеклеточной ДНК матери и плода в крови беременных женщин // Медицинская генетика. - 2007. - Т. 6, № 8. - C. 24-29.
10. Bianchi D.W., Platt L.D., Goldberg J.D. et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing // Obstet. Gynecol. - 2012. - Vol. 119, № 5. - P. 890-901.
11. Chan L.Y.S., Leung T.N., Allen Chan K.C. et al. Serial analysis of fetal DNA concentrations in maternal plasma in late pregnancy // Clin. Chem. - 2003. - Vol. 49. - P. 678-680.
12. Chim S.S., Jin S., Lee T.Y. et al. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21 // Clin. Chem. - 2008. - Vol. 54, № 3. - Р. 500-511.
13. Chiu R.W.K., Lo Y.M.D. Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age // Semin. Fetal. Neonatal. Med. - 2011. - Vol. 16, № 2. - Р. 88-93.
14. Dan S., Wang W., Ren J. et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors // Prenat. Diagn. - 2012. - Vol. 32, № 13. - P. 1225-1232.
15. Daniels G., Kirstin F., Martin P. et al. Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects // Prenat. Diagn. - 2009. - Vol. 9, № 2. - P. 101-107.
16. Deng Y.H., Yin A.H., He Q. et al. Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification // Clin. Chem. Lab. Med. - 2011. - Vol. 49, № 4. - P. 641-646.
17. Devaney S.A., Palomaki G.E., Scott J.A. et al. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis // JAMA. - 2011. - Vol. 306, № 6. - P. 627-636.
18. Fan H.C., Blumenfeld Y.J., Chitkara U. et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood // Proc. Natl. Acad. Sci. USA. - 2008. - Vol. 105, № 42. - P. 16266-16271.
19. Farina A., LeShane E. S., Romero R.et al. High levels of fetal cell-free DNA in maternal serum: a risk factor for spontaneous preterm delivery // Am. J. Obstet. Gynecol. - 2005. - Vol. 193, № 2. - P. 421-425.
20. Gianaroli L., Magli M. C., Pomante A. et al. Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study // Fertil. Steril. - 2014. - Vol. 102, № 6. - P. 1692-1699.
21. Gil M.M., Akolekar R., Quezada M.S. et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis // Ultrasound. Obstet. Gynecol. - 2015. - Vol. 45, № 3. - P. 249-266.
22. Go A.T., Visser A., Mulder M.A. et al. Detection of placental transcription factor mRNA in maternal plasma // Clin. Chem. - 2004. - Vol. 50, № 8. - P. 1413-1414.
23. Go A.T., Visser A., Mulder M.A. et al. 44 single-nucleotide polymorphisms expressed by placental RNA: assessment for use in noninvasive prenatal diagnosis of trisomy 21 // Clin. Chem. - 2007. - Vol. 53, № 12. - P. 2223-2224.
24. Go A.T., Visser A., Mulder M.A. et al. C21ORF105, A chromosome 21-encoded mRNA, is not a discriminative marker gene for prediction of Down syndrome in maternal plasma // Prenat. Diagn. - 2007. - Vol. 27, № 2. - P. 146-149.
25. Go A.T., van Vugt J.M.G., Oudejans C.B.M. Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities // Hum. Reprod. Update. - 2010. - Vol. 17, № 3. - P. 1-12.
26. Hall M. P., Hill M., Zimmermann B. et al. Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism-and informatics-based approach // PloS one. - 2014. - Vol. 9, № 5. - P. e96677.
27. Hill M., Finning K., Martin P. et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice // Clin. Genet. - 2011. - Vol. 80, № 1. - P. 68-75.
28. Kitzman J.O., Snyder M.W., Ventura M. et al. Non-invasive whole genome sequencing of a human fetus // Sci. Transl. Med. - 2012. - Vol. 4, № 137. - P. 137ra76.
29. Liao G.J., Chan K.C., Jiang P. et al. Non-invasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targets massively parallel sequencing of maternal plasma DNA // PLoS ONE. - 2012. - Vol. 7, № 5. - P. e38154.
30. Lo Y.M.D., Corbetta N., Chamberlain P.F. et al. Presence of fetal DNA in maternal plasma and serum // The Lancet. - 1997. - Vol. 350, № 9076. - P. 485-487.
31. Lo Y.M.D., Tein M.S., Lau T.K. et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis // Am. J. Hum. Genet. - 1998. - Vol. 62, № 4. - P. 768-775.
32. Lo Y.M.D., Lau T.K., Zhang J. et al. Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21 // Clin. Chem. - 1999. - Vol. 45, № 10. - P. 1747-1751.
33. Lo Y.M.D., Chan K.C., Sun H. et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus // Sci. Transl. Med. - 2010. - Vol. 2, № 61. - P. 61ra91.
34. Lo Y.M.D., Chiu R.W.K. Genomic analysis of fetal nucleic acids in maternal blood // Annu. Rev. Genomics Hum. Genet. - 2012. - Vol. 13. - P. 285-306.
35. Lun F.M., Chiu R.W., Chan K.A. et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma // Clin. Chem. - 2008. - Vol. 54, № 10. - P. 1664-1672.
36. Mujezinovic F., Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review // Obstet. Gynecol. - 2007. - Vol. 110, № 3. - P. 687-694.
37. Ng E.K.O., Tsui N.B.Y., Lau T.K. et al. From the Cover Medical Sciences mRNA of placental origin is readily detectable in maternal plasma // Proc. Natl. Acad. Sci. USA. - 2003. - Vol. 100, № 8. - Р. 4748-4753.
38. Nicolaides K.H., Syngelaki A., Ashoor G. et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population // Am. J. Obstet. Gynecol. - 2012. - Vol. 207, № 5. - P. 374:e1-e6.
39. Nicolaides K.H., Syngelaki A., Gil M., Atanasova V., Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y // Prenat. Diagn. - 2013 - № 33. - P. 575-579
40. Oudejans C.B.M., Go A.T., Visser A. et al. Detection of chromosome 21-encoded mRNA of placental origin in maternal plasma // Clin. Chem. - 2003. - Vol. 49, № 9. - P. 1445-1449.
41. Palini S., Galluzzi L., De Stefani S. et al. Genomic DNA in human blastocoele fluid // Reprod. Biomed. Online. - 2013. - Vol. 26, № 6. - P. 603-610.
42. Papageorgiou E.A., Karagrigoriou A., Tsaliki E. et al. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21 // Nature. - 2011. - Vol. 17, № 4. - P. 510-514.
43. Poon L.L., Leung T.N., Lau T.K. et al. Presence of fetal RNA in maternal plasma // Clin. Chem. - 2000. - Vol. 46, № 11. - P. 1832-1834.
44. Poon L.L., Leung T.N., Lau T.K. et al. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma // Clinical chemistry. - 2002. - Vol. 48, № 1. - P. 35-41.
45. Rijnders R.J., Christiaens G.C., Bossers B. et al. Clinical applications of cell-free fetal DNA from maternal plasma // Obst. Gynecol. - 2004. - Vol. 103, № 1. - P. 157-164.
46. Scheffer P.G., van der Schoot C.E., Page-Christiaens G.C. et al. Reliability of Fetal Sex Determination Using Maternal Plasma // Obstet. Ginecol. - 2010. - Vol. 115, № 1. - P. 117-126.
47. Sekizawa A., Jimbo M., Saito H. et al. Increased cell-free fetal DNA in plasma of two women with invasive placenta // Clin. Chem. - 2002. - Vol. 48, № 2. - P. 353-354.
48. Sparks A.B., Struble C.A., Wang E.T. et al. Non-invasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18 // Am. J. Obstet. Gynecol. - 2012. - Vol. 206, № 4. - P. 319. e1-9.
49. Tong Y.K., Jin S., Chiu R.W. et al. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach // Clin. Chem. - 2010. - Vol. 56, № 1. - P. 90-98.
50. Tsui N.B., Chim S.S., Chiu R.W. et al. Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling // J. Med. Genet. - 2004. - Vol. 41, № 6. - P. 461-467.
51. Tsui N.B., Akolekar R., Chiu R.W. et al. Synergy of total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of trisomy 21 // Clin. Chem. - 2010. - Vol. 56, № 1. - P. 73-81.
52. Vlasov V.V., Laktionov P.P., Rykova E.Y. Extracellular nucleic acids // Bioessays. - 2007. - Vol. 29, № 7. - P. 654-667.
53. Wataganara T., LeShane E.S., Farina A. et al. Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18 // Hum. Genet. - 2003. - Vol. 112, № 2. - P. 204-208.
54. Wright C.F., Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis // Hum. Reprod. Update. - 2009. - Vol. 15, № 1. - P. 139-151.
55. Zhong X.Y., Holzgreve W., Hahn S. Risk free simultaneous prenatal identification of fetal Rhesus D status and sex by multiplex real-time PCR using cell free fetal DNA in maternal plasma // Swiss Med. Wkly. - 2001. - Vol. 131, № 5-6. - P. 70-74.
56. Zhong X.Y., Holzgreve W., Hahn S. The levels of circulatory fetal DNA in maternal plasma are elevated prior to the onset of preeclampsia // Hypertension in Pregnancy. - 2002. - Vol. 21, № 1. - P. 77-83.
57. Zimmermann B., Hill M., Gemelos G. et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y using targeted sequencing of polymorphic loci // Prenat. Diag. - 2012. - Vol. 32, № 13. - P. 1233-1241.
58. Zolotukhina T.V., Shilova N.V., Voskoboeva E.Y. Analysis of cell-free fetal DNA in plasma and serum of pregnant women // J. Histochem. Cytochem. - 2005. - Vol. 53, № 3. - P. 297-299.
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For citations:
Zhigalina D.I., Skryabin N.A., Lebedev I.N. Noninvasive DNA diagnostics in reproductive medicine. Medical Genetics. 2015;14(10):3-13. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-10-3-13
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