VENTAJAS Y LIMITACIONES DE LAS PRUEBAS GENÉTICAS PRENATALES NO INVASIVAS
DOI:
https://doi.org/10.56519/xgpd9142Palabras clave:
Diagnóstico prenatal, test no invasivo, trisomía, anomalías cromosómicas, Prenatal diagnosis, non-invasive test, trisomy, chromosomal abnormalitiesResumen
La detección temprana de anomalías cromosómicas prenatales es esencial para reducir riesgos y mejorar la toma de decisiones durante el embarazo. Las pruebas genéticas no invasivas ofrecen una alternativa frente a métodos invasivos, evitando complicaciones. Sin embargo, es necesario comprender sus ventajas y limitaciones para garantizar un uso adecuado y ético. La detección de anomalías cromosómicas prenatales mediante la obtención de ADN libre circulante en sangre materna es una innovación importante en el análisis cromosómico de algunas patologías. Estas pruebas buscan reducir riesgos y mejorar la toma de decisiones. El objetivo del estudio es describir las ventajas y limitaciones de las pruebas genéticas prenatales no invasivas, considerando su precisión, seguridad, alcance diagnóstico y aspectos éticos y prácticos. Se realizó una revisión sistemática de artículos publicados entre 2019 y junio de 2024 en bases de datos como Scopus, Science Direct, PubMed, Springer y Scielo. Se incluyeron estudios en inglés y español que abordaran ventajas y limitaciones de estas pruebas. Tras aplicar criterios de inclusión y exclusión, se analizaron 8 estudios. Dentro de las ventajas se considera la seguridad porque no implican riesgo de aborto, a diferencia de métodos como la amniocentesis. Además, pueden realizarse desde la semana décima y ofrecen alta sensibilidad y especificidad para trisomías comunes, especialmente la trisomía 21. Sin embargo, no constituyen un diagnóstico definitivo; los resultados deben confirmarse mediante pruebas invasivas por la posibilidad de falsos positivos y negativos. Factores como edad gestacional temprana, obesidad materna y mosaicismo placentario afectan su precisión. También presentan limitaciones para detectar microdeleciones y mutaciones específicas, requieren asesoramiento genético y plantean dilemas éticos relacionados con aborto selectivo y acceso desigual. Estas técnicas no invasivas son una herramienta poderosa y segura para la detección temprana de anomalías cromosómicas, pero siempre deberán considerarse complementarias y deben acompañarse de asesoramiento especializado.
ABSTRACT:
Early diagnosis of prenatal chromosomal abnormalities is essential to reduce risks and improve decisions in pregnancy. Non-invasive genetic tests offer an alternative to invasive methods, avoiding complications. However, it´s necessary to understand their advantages and limitations to ensure proper and ethical use. Chromosomal abnormalities detection through the analysis of cell-free DNA in maternal blood is an important innovation in the chromosomal analysis of certain pathologies. These tests aim to reduce risks and improve decision-making. The objective of this study is to describe the advantages and limitations of non-invasive prenatal genetic tests, considering their accuracy, safety, diagnostic scope, ethical and practical aspects. A systematic review of articles published between 2019 and June 2024 was made in databases such as Scopus, Science Direct, PubMed, Springer, and Scielo. Studies in English and Spanish about the advantages and limitations of these tests were included. After applying inclusion and exclusion criteria, eight studies were included. The advantages, safety is highlighted because they do not involve the risk of miscarriage, like other methods such as amniocentesis. In addition, they can be performed from the tenth week and offer high sensitivity and specificity for common trisomies, especially trisomy 21. However, their diagnosis is not definitive; results must be confirmed through invasive tests due to the possibility of false positives and negatives. Factors such as early gestational age, maternal obesity, and placental mosaicism affect their accuracy. They also have limitations in detecting microdeletions and specific mutations, require genetic counseling, and raise ethical dilemmas related to selective abortion and unequal access. These non-invasive techniques are a powerful and safe tool for early detection of chromosomal abnormalities, but they should always be considered complementary and accompanied by specialized counseling.
Referencias
Wright D, Taylor A, Wright A, Nicolaides KH. Clinical performance of cell-free DNA testing for fetal aneuploidy. Ultrasound Obstet Gynecol. 2015;45(1):94–101. https://doi.org/10.1002/uog.14710
Sabry MS, Aziz E, Ahmed S, Abdel S. Non invasive prenatal testing (NIPT) for common aneuploidies and beyond. Eur J Obstet Gynecol Reprod Biol. 2021;258:424–9. https://doi.org/10.1016/j.ejogrb.2020.12.046
Nicolaides K. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31(1):7–15. https://doi.org/10.1002/pd.2637
Ventura W. Diagnóstico prenatal no invasivo basado en ADN libre fetal: actualización. Rev Peru Ginecol Obstet. 2014;60(3):233–8.
Harraway J. Non-invasive prenatal testing. Aust Fam Physician. 2017;46(10):735–9.
Carbone L, Cariati F, Sarno L, Conforti A, Bagnulo F, Strina I, et al. Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges. Genes (Basel). 2020;12(1):15. https://doi.org/10.3390/genes12010015
Liehr T. False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests? Mol Cytogenet. 2022;15(1):36. https://doi.org/10.1186/s13039-022-00612-y
Guseh SH. Noninvasive prenatal testing: from aneuploidy to single genes. Hum Genet. 2020;139(9):1141–8. https://doi.org/10.1007/s00439-020-02121-w
Samura O. Update on noninvasive prenatal testing: A review based on current worldwide research. J Obstet Gynaecol Res. 2020;46(8):1246–54. https://doi.org/10.1111/jog.14268
Liehr T. Non-invasive Prenatal Testing, What Patients Do Not Learn, May Be Due to Lack of Specialist Genetic Training by Gynecologists and Obstetricians? Front Genet. 2021;12:682980. https://doi.org/10.3389/fgene.2021.682980
Sabbatinelli G, Fantasia D, Palka C, Morizio E, Alfonsi M, Calabrese G. Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview. Diagnostics (Basel). 2021;11(12):2239. https://doi.org/10.3390/diagnostics11122239
Prior-de Castro C, Gómez-González C, Rodríguez-López R, Macher HC. Diagnóstico genético prenatal de enfermedades monogénicas. Adv Lab Med. 2022;4(1):40–51. https://doi.org/10.1515/almed-2022-0036
Abedalthagafi M, Bawazeer S, Fawaz RI, Heritage AM, Alajaji NM, Faqeih E. Non-invasive prenatal testing: a revolutionary journey in prenatal testing. Front Med (Lausanne). 2023;10:1265090. https://doi.org/10.3389/fmed.2023.1265090
Gallo P. Dilemas éticos del diagnóstico genético prenatal no invasivo utilizando la tecnología de ADN fetal libre. Med Ética. 2022;33(2):323–56. https://doi.org/10.36105/mye.2022v33n2.02
Dilemas bioéticos en diagnóstico prenatal: test prenatal no invasivo y nuevas tecnologías [Editorial]. Cuad Bioét. 2023;34(111):121-5.
Lostchuck E, Al-Kouatly HB. Population-based trends in invasive prenatal diagnosis. Ultrasound Obstet Gynecol. 2018;51(1).
Lau TK, Cheung SW, Lo PSS, Pursley AN, Chan MK, Jiang F, 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. Ultrasound Obstet Gynecol. 2014;43(3):254–64. https://doi.org/10.1002/uog.13283
Okoror CEM, Arora S. Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13: experience from a district general hospital. Eur J Obstet Gynecol Reprod Biol X. 2023;19:100211. https://doi.org/10.1016/j.eurox.2023.100211
Jeppesen LD, Hatt L, Singh R, Schelde P, Andreasen L, Markholt S, et al. Screening for fetal aneuploidy and sex chromosomal anomalies in a pregnant woman with mosaicism for Turner syndrome. Front Genet. 2021;12:741752. https://doi.org/10.3389/fgene.2021.741752
Chandrasekharan S, Minear MA, Hung A, Allyse M. Noninvasive prenatal testing goes global: challenges and opportunities. Trends Mol Med. 2014;20(11):623–31. https://doi.org/10.1016/j.molmed.2014.09.004
Abel DE, Alagh A. Benefits and limitations of noninvasive prenatal aneuploidy screening. JAAPA. 2020;33(4):49–52. https://doi.org/10.1097/01.JAA.0000657156.12467.24
Taboada Lugo N. Consideraciones éticas en el diagnóstico prenatal y el asesoramiento genético. Humanidades Médicas. 2017;17(1):2–16.
Stevens C, Llorin H, Gabriel C, Mandigo C, Gochyyev P, Studwell C. Genetic counseling for fetal sex prediction by NIPT: challenges and opportunities. J Genet Couns. 2023;32(5):945–56. https://doi.org/10.1002/jgc4.1738
Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372(17):1589–97. https://doi.org/10.1056/NEJMoa1407349
