Neinvazivní prenatální testy: jejich přínos a limity

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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; Edward 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: Ceska Gynekol 2020; 85(1): 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

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