Boardman. Neonatología_8ed

CAPÍ TULO 10 • Diagnóstico y tratamiento prenatales en la era molecular: indicaciones, procedimientos y técnicas de laboratorio 133

presas en el momento del parto. El transporte materno (dentro del útero) más que neonatal, a centros de atención de tercero/cuarto nivel, ha mejorado mucho los resultados, en combinación con la capacidad de planear la forma óptima del nacimiento con bastante antelación para tener la presencia de un equipo apropiado a cargo en el momento del nacimiento. Ha habido un decremento espectacular en la mortalidad in utero y perinatal, que a veces ha sido sustituida por una mayor morbi‑ lidad perinatal. Se puede prever una identificación cada vez mayor de las enfermedades en la UCIN, ya que los tratamientos fetales permiten resolver de manera eficaz anomalías menores a moderadas, pero tam‑ bién salvar a quienes antes hubieran muerto, pero ahora sobreviven con problemas significativos. Como ocurre con todas las nuevas tecnologías, hay una fase de desa‑ rrollo en la que un pequeño número de investigadores es pionero en un nuevo enfoque. Le sigue una fase de difusión en la que surgen nuevos centros, aumenta el número de pacientes y se disparan las complica‑ ciones. La terapia fetal no es una excepción a esta regla. Han surgido muchos centros nuevos, normalmente iniciados por aprendices de otros más establecidos. Como muchos de los procedimientos han pasado de ser experimentales a ser de atención clínica altamente especializada, la competencia por los casos se ha vuelto importante. Los programas de terapia fetal se consideran programas de alto perfil y prestigio, con un considerable negocio “de arrastre” para el centro médico. La International Fetal Medicine and Surgery Society ha redactado unas directrices para que los centros emergentes intenten minimizar los inconvenientes de la ampliación de la capacidad con proveedores más nuevos y con menos experiencia (194). La historia ha sugerido que los procedimientos más avanzados o de frontera tardan alrededor de una década en ocupar su lugar en el arsenal rutinario de la aten‑ ción de alto riesgo con capacidades regionales. No hay motivos para creer que la terapia fetal vaya a ser una excepción. REFERENCIAS 1. Wegman ME. Infant mortality in the 20th century, dramatic but uneven progress. J Nutr 2001;131:401s. 2. Evans MI, Johnson MP, Yaron Y, et al., eds. Prenatal diagnosis: genetics, reproductive risks, testing, and management . New York, NY: McGraw Hill Publishing Co., 2006. 3. Gastel B, Haddow JE, Fletcher JC, et al., eds. Maternal Serum alpha-feto protein: issues in the prenatal screening and diagnosis of neural tube defects. NCHCT conference proceedings . Washington, DC: US Gov’t Print‑ ing Office, 1980. 4. Cohen AH, Hanft RS, eds. Technology in American Health Care: Policy directions for effective evaluation and management . Ann Arbor, MI: Uni‑ versity of Michigan Press, 2004. 5. Evans MI, Hanft RS. The introduction of new technologies. ACOG Clin Rev 1997;2:1. 6. Best S, Wou K, et al. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn 2018;38(1):10. 7. Weizman T, Berger AC. Generating evidence for genomic diagnostic test development: workshop summary . Washington, DC: Institute of Medicine, 2011. 8. https://techcrunch.com/2019/06/28/theranos‑founder‑elizabeth‑holmes‑ to‑stand‑trial‑in‑2020/ 9. Committee Opinion. Direct to consumer marketing of genetic testing. Eth ics committee . Washington, DC: American College of Obstetricians and Gynecologists, 2008. 10. Ready K, Hague IS, Srinivasan BS, et al. Knowledge and attitudes regarding expanded genetic carrier screening among women’s health care providers. Fertil Steril 2012;97:407. 11. National Newborn Screening and Global Resource Center. History and overview of newborn screening. Available from: http://genes‑r‑us.uthscsa. edu/resources/newborn/overview.htm 12. President’s Council on Bioethics. The Changing moral focus of newborn screening: an ethical analysis by the president’s council on bioethics. Available from: http://bioethics.georgetown.edu/pcbe/reports/newborn_ screening/index.html. Accessed September 20, 2019. 13. Ashkenazi Jewish Carrier Screening. Available from: https://www.webmd. com/a‑to‑z‑guides/ashkenazi‑jewish‑genetic‑panel#1. Accessed August 28, 2019. 14. Haque IS, Lazarin GA, Kang H, et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA 2016;316:734. 15. National Human Genome Research Institute. Regulation of genetic tests. Available from: http://www.genome.gov/10002335 44. Evans MI, Andriole S, Curtis J, et al. The epidemic of abnormal copy num‑ ber variant cases missed because of reliance upon noninvasive prenatal screening. Prenat Diagn 2018;38(10):730. 45. Steel MW, Breg WR. Chromosome analysis of human amniotic fluid cells. Lancet 1966;1:383. SAMPLE 16. 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Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem 2014;60:78. 40. Chitty LS, Bianchi DW. Noninvasive prenatal testing: the paradigm is shift‑ ing rapidly. Prenat Diagn 2013;33:511. 41. Galen RS, Gambino SR. Beyond normality: the predictive value and effi cacy of medical diagnoses . Baltimore, MD: John Wiley and Sons, 1975. 42. Krantz DA, Hallahan TW, Carmichael JB, et al. Utilization of a 1/1000 cut‑ off in combined screening for Down Syndrome in younger women AMA patients provides cost advantages compared with NIPS. Am J Obstet Gyne col 2014;210:S111. 43. Evans MI, Evans SM, Bennett TA, et al. The price of abandoning diagnostic testing for cell free fetal DNA Screening. Prenat Diagn 2018;38:243.

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