Neinvazivní prenatální testy: jejich přínos a limity


Autoři: M. V. C. Andari 1;  S. L. C. Bussamra 1,2;  T. G. D. Tedesco 1;  P. A. B. Peixoto 2,3,4;  P. D. B. S. Pares 2;  A. Braga 5;  E. Araujo Júnior 2;  T. Aoki 1
Působiště autorů: Department of Obstetrics and Gynecology, Science College of Santa Casa of São Paulo (FSMSCSP), São Paulo-SP, Brazil 1;  Department of Obstetrics, Paulista School of Medicine – Federal University of São Paulo (EPM-UNIFESP), São Paulo-SP, Brazil 2;  Mário Palmério University Hospital, University of Uberaba (UNIUBE), Uberaba-MG, Brazil 3;  Department of Obstetrics and Gynecology, Federal University of Triângulo Mineiro (UFTM), Uberaba-MG, Brazil 4;  Department of Obstetrics and Gynecology, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil 5
Vyšlo v časopise: Čes. Gynek.2020, 85, č. 1 s. 41-48
Kategorie: Přehledový článek

Souhrn

Úvod: Za „zlatý standard“ pro prenatální diagnostiku aneuploidií je považováno vyšetření karyotypu, které má vysokou přesnost, ale je závislé na invazivních metodách, které nesou riziko těhotenské ztráty. Pro klinické využití byly k dispozici různé neinvazivní prenatální genetické testy (NIPT), které zahrnovaly metody pro sledování aneuploidií, včetně pohlavních chromozomů, metody pro vyloučení otcovství a některé mikrodelece a triploidie.Tyto specifické testy využívají tři metodické nástroje: s-MPS, t-MPS a SNP. Genetické testy, navzdory vysokým nákladům, pokrývají širší škálu klinických aplikací a mají tu výhodu, že mohou být provedeny časně, s vysokou přesností a nízkou falešnou pozitivitou.

Typ studie: Přehledový článek.

Název a sídlo pracoviště: Gynekologicko-porodnická klinika, Přírodovědecká fakulta Santa Casa v São Paulu (FSMSCSP), São Paulo-SP, Brazílie.

Metodika: Tato studie využívala PubMed/MEDLINE jako zdroj výzkumu a zaměřila se na shromažďování údajů, které umožňovaly sledovat vývoj, technické a metodologické pokroky dostupných testů, posoudit jeho přínos, omezení a budoucí perspektivy na NIPT.

Závěr: NIPT vyniká tím, že může být využito v časné fázi těhotenství s vysokou přesností a nízkou falešnou pozitivitou, včetně širokého spektra klinického využití. T-MPS je nejnovější technika používaná k vyhodnocení aneuploidií, která se vyznačuje větší přesností a nižšími náklady než s-MPS, ale je omezena pouze na nejběžnější aneuploidie. Technika SNP může hledat více genetických mutací s větší přesností.

Klíčová slova:

prenatální diagnostika – genetický test – DNA/krev – onemocnění plodu


Zdroje

1.    Akolekar, R., Beta, J., Picciarelli, G., et al. Procedure related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol, 2015, 45(1), p. 16–26.

2.    Akolekar, R., Farkas, DH., VanAgtmael, AL., et al. Fetal sex determination using circulating cell-free fetal DNA (ccffDNA) at 11 to 13 weeks of gestation. Prenat Diagn, 2010, 30(10), p. 918–23.

3.    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), p. 301–302.

4.    Avent, ND. The Rhesus blood group system: insights from recent advantages in molecular biology. Transfus Med Rev, 1999, 13(4), p. 245–266.

5.    Aykut, A., Onay, H., Sagol, S., et al. Determination of fetal Resus D status by maternal plasma DNA Analysis. Balkan J Med Genet, 2013, 16(2), p. 33–38.

6.    Bianchi, DW., Flint, AF., Pizzimenti, MF., et al. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc Natl Acad Sci USA, 1990, 87(9), p. 3279–3283.

7.    Bustamante-Aragonés, A., Marta Rodríguez-de-Alba, M., Perlado, S., et al. Non-invasive prenatal diagnosis of single-gene disorders from maternal blood. Gene, 2012, 504(1), p. 144–149.

8.    Costa, JM., Benachi, A., Gautier, E., et al. [First trimester fetal sex determination in maternal serum using real-time PCR]. Gynecol Obstet Fertil, 2002, 30(12), p. 953–957.

9.    Driscoll, DA., Gross, S. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med, 2009, 360(24), p. 2556–2562.

10.  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), p. 16266–16271.

11.  Fan, HC., Gu, W., Wang, J., et al. Non-invasive prenatal measurement of the fetal genome. Nature, 2012, 487(7407), p. 320–324.

12.  Fan, HC., Quake, SR. Detection of aneuploidy with digital polymerase chain reaction. Anal Chem, 2007, 79(19), p. 7576–7579.

13.  Geifman-Holzman, O., Grotegut, CA., Gaughan, JP. Diagnostic accuracy ofnoninvasive fetal Rh genotyping from maternal blood – a meta-analysis. Am J Obstet Gynecol, 2006, 195(4), p. 1163–1173.

14.  Gonzalez-Gonzalez, MC., Garcia-Hoyos, M., Trujillo, MJ., et al. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn, 2002, 22(10), p. 946–948.

15.  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), p. 232–234.

16.  Gu, W., Koh, W., Blumenfeld, YJ., et al. Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. Genet Med, 2014, 16(7), p. 564–567.

17.  Hill, M., Finning, K., Martin, P., et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet, 2011, 80(1), p. 68–75.

18.  Illanes, S., Denbow, M., Kailasam, C., et al. Early detection of cell-free fetal DNA in maternal plasma. Early Hum Dev, 2007, 83(9), p. 563–566.

19.  Kagan, KO., Wright, D., Baker, A., et al. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol, 2008, 31(6), p. 618–624.

20.  Kitzman, JO., Snyder, MW., Ventura, M., et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med, 2012, 4(137), p. 137ra76.

21.  Lau, TK., Cheung, SW., Lo, PS., et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol, 2014, 43(3), p. 254–264.

22.  Li, Y., Holzgreve, W., Page-Christiaens, GC., et al. Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma – case report. Prenat Diagn, 2004, 24(11), p. 896–898.

23.  Lim, JH., Kim, MJ., Kim, SY., et al. Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma. J Assist Reprod Genet, 2010, 28(2), p. 167–172.

24.  Lo, Y. Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of art. BJOG, 2008, 116(2), p. 152–157.

25.  Lo, YM., Chan, KC., Sun, H., et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med, 2010, 2(61), p. 61–91.

26.  Lo, YM., Corbetta, N., Chamberlain, PF., et al. Presence of fetal DNA in maternal plasma and serum. Lancet, 1997, 350(9076), p. 485–487.

27.  Lo, YM., Hjelm, NM., Fidler, C., et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med, 1998, 339(24), p. 1734–1738.

28.  Lo, YM., Leung, TN., Tein, MS., et al. Quantitative abnormalities of fetal DNA in maternal plasma in preeclampsia. Clin Chem, 1999, 45(2), p. 184–188.

29.  Lo, YM., Lo, ES., Watson, N., Noakes, L., et al. Two-way cell traffic between mother and fetus: biologic and clinical implications. Blood, 1996, 88(11), p. 4390–4395.

30. Lo, YM., Lun, FM., Chan, KC., et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA, 2007, 104(32), p. 1316–1321.

31.  Lo, YM., Tein, MS., Lau, TK., et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for non-invasive prenatal diagnosis. Am J Hum Genet, 1998, 62(4), p. 768–775.

32.  Lun, FM., Tsui, NB., Chan, KC., et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci USA, 2008, 105(50), p. 19920–19925.

33.  Martinhago, CD., Oliveira, RM., Canas, MC., et al. Accuracy of fetal gender determination in maternal plasma at 5 and 6 weeks of pregnancy. Prenat Diagn, 2006, 26(13), p. 1219–1223.

34.  Newson, AJ. Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med, 2008, 13(2), p. 103–108.

35.  Nicolaides, K. Some thoughts on the true value of ultrasound. Ultras Obstet Gynecol, 2007, 30(5), p. 671–674.

36.  Nicolaides, KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol, 2004, 191(1), p. 45–67.

37.  Nicolaides, KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn, 2011, 31(1), p. 7–15.

38.  Pertl, B., Sikizawa, A., Samura, O., et al. Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats. Hum Genet, 2000, 106(1), p. 45–49.

39.  Poon, LL., Leung, TN., Lau, TK., et al. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem, 2002, 48(1), p. 35–41.

40.  Poon, LL., Leung, TN., Lau, TK., Lo, YM. Presence of fetal RNA in maternal plasma. Clin Chem, 2000, 46(11), p. 1832–1834.

41.  Quezada, MS., Gil, MM., Francisco, C., et al. Screening for tri- somies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10–11 weeks’ gestation and the combined test at 11-13 weeks. Ultrasound Obstet Gynecol, 2015, 45(1), p. 36–41.

42.  Ryan, A., Baner, J., Demko, Z., et al. Informatics-based, highly accurate, noninvasive prenatal paternity testing Genet Med, 2013, 15(6), p. 473–477.

43.  Salomon, LJ., Alfirevic, Z., Audibert, F., et al. ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and pre-natal ultrasound practice. Ultrasound Obstet Gynecol, 2017, 49(6), p. 815–816.

44.  Samango-Sprouse, C., Banjevic, M., Ryan, A., et al. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn, 2013, 33(7), p. 643–649.

45.  Sayres, LC., Cho, MK. Cell-free fetal nucleic acid testing: A review of the technology and its applications. Obstet Gynecol, 2011, 66(7), p. 431–442.

46.  Emer, CS., Duque, JA., Müller, AL., et al. [Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy]. Rev Bras Ginecol Obstet, 2015, 37(7), p. 333–338.

47.  Sekizawa, A., Kondo, T., Iwasaki, M., et al. Accuracy of fetal gender determination by analysis of DNA in maternal plasma. Clin Chem, 2001, 47(10), p. 1856–1858.

48.  Sparks, AB., Struble, CA., Wang, ET., et al. 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, 2012, 206(4), p. 319e1–e9.

49.  Tabor, A., Alfirevic, Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther, 2010, 27(1), p. 1–7.

50.  Tong, YK., Lo, YM. Diagnostic developments involving cell-free (circulating) nucleic acids. Clin Chim Acta, 2006, 363(1–2), p. 187–196.

51.  Tsui, NB., Chim, SS., Chiu, RW., et al. Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling. J Med Genet, 2004, 41(6), p. 461–467.

52.  Van der Schoot, CE., Soussan, AA., Koelewijn, J., et al. Non-invasive antenatal RHD typing. Transfus Clin Biol, 2006, 13(1-2), p. 53–57.

53.  Wald, NJ., Densem, JW., George, L., et al. Prenatal screening for Down´s syndrome using inhibin-A as a serum marker. Prenat Diagn, 1996, 16(2), p. 143–152.

54.  Wataganara, T., LeShane, ES., 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, 112(2), p. 204–208.

55.  Wellesley, D., Dolk, H., Boyd, PA., et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet, 2012, 20(5), p. 521–526.

56.  Wright, CF., Burton, H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update, 2009, 15(1), p. 139–151.

Štítky
Dětská gynekologie Gynekologie a porodnictví Reprodukční medicína
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