Anales de la RANM

29 A N A L E S R A N M R E V I S T A F U N D A D A E N 1 8 7 9 DIAGNÓSTICO PRENATAL NO INVASIVO DE LA ANEMIA FALCIFORME Ferrer Benito S, et al. An RANM. 2024;141(01): 21 - 29 15. Gruber A, Pacault M, El Khattabi LA et al. Non-invasive prenatal diagnosis of paterna- lly inherited disorders from maternal plasma: Detection of NF1 and CFTR mutations using droplet digital PCR. Clin Chem Lab Med. 2018; 56(5): 728-738. doi: 10.1515/cclm- 2017-0689 16. Rodríguez de Alba M, Bustamante-Aragonés A, Perlado S et al. Noninvasive prenatal diag- nosis of monogenic disorders. Expert Opin Biol Ther. 2012; 12(Suppl1): S171-S179. doi: 10.1517/14712598.2012.674509. 17. Mao X, Liu C, Tong H, Chen Y, Liu K. Prin- ciples of digital PCR and its applications in current obstetrical and gynecological disea- ses. Am J Transl Res. 2019; 11(12): 7209-7222. eCollection 2019. 18. Hanson B, Scotchman E, Chitty LS, Chandler NJ. Non-invasive prenatal diagnosis (NIPD): How analysis of cell-free DNA in mater- nal plasma has changed prenatal diagnosis for monogenic disorders. Clin Sci (Lond). 2022; 136(22): 1615-1629. doi: 10.1042/ CS20210380 19. Andrade C. Z Scores, standard scores, and composite test scores explained. Indian J Psychol Med. 2021; 43(6): 555-557. doi: 10.1177/02537176211046525 20. Lench N, Barrett A, Fielding S et al. The clinical implementation of non-invasive prenatal diagnosis for single-gene disor- ders: Challenges and progress made. Prenat Diagn. 2013; 33(6): 555-562. doi: 10.1002/ pd.4124. 21. Nectoux J. Current, Emerging, and future applications of digital PCR in non-invasive prenatal diagnosis. Mol Diagn Ther. 2018; 22(2): 139-148. doi: 10.1007/s40291-017- 0312-x. 22. Barrett AN, McDonnell TC, Chan KC, Chitty LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell ane- mia. Clin Chem. 2012; 58(6): 1026-1032. doi: 10.1373/clinchem.2011.178939. 23. Perlado S, Bustamante-Aragonés A, Donas M, Lorda-Sánchez I, Plaza J, Rodríguez de Alba M. Fetal genotyping in maternal blood by digital PCR: Towards NIPD of monoge- nic disorders independently of parental ori- gin. PLoS One. 2016; 11(4): e0153258. doi: 10.1371/journal.pone.0153258. eCollection 2016. 24. Zhou L, Zhang B, Liu J, Shi Y, Wang J, Yu B. The optimal cutoff value of Z-scores enhances the judgment accuracy of noninvasive prena- tal screening. Front Genet. 2021; 12: 690063. doi: 10.3389/fgene.2021.690063. eCollection 2021. 25. Gu W, Koh W, Blumenfeld YJ et al. Noninva- sive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. Genet Med. 2014; 16(7): 564-567. doi: 10.1038/gim.2013.194. 26. Bustamante-Aragonés A, Rodríguez de Alba M, Perlado S et al. Non-invasive prenatal diagnosis of single-gene disorders from ma- ternal blood. Gene. 2012; 504(1): 144-149. doi: 10.1016/j.gene.2012.04.045. Si desea citar nuestro artículo: Ferrer Benito S, Gómez Álvarez M, Torrejón Martínez MJ, López Rubio M, del Orbe Barreto RA, Arbeteta Juanis J, Muruzabal Si- ges MJ, Salido Fiérrez EJ, García Mateo A, Recasens V, Martínez Nieto J, Villegas Martínez A, González Fernández FA, Ortega Mon- teroAB, García Moreno L, Ropero Gradilla P, Benavente Cuesta C, Grupo Español de Eritropatología. Implementación de la PCR di- gital para el diagnóstico prenatal no invasivo de la enfermedad de células falciformes. Estudio piloto. An RANM. 2024;141(01): 21–29. DOI: 10.32440/ar.2024.141.01.rev02