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. Martin JA, Hamilton BE, Osterman MJK, et al. Births: final data for 2012. National vital statistics report: 62 #9 . December 2013. 17. Christianson A, Howson CP, Modell B. Global Report on birth defects . White Plains, NY: March of Dimes Birth Defects Foundation, 2006. 18. Evans MI, Hallahan TW, Krantz D, et al. Meta‑analysis of first trimes‑ ter Down Syndrome screening studies: free beta hCG significantly out‑ performs intact hCG in a multi‑marker protocol. Am J Obstet Gynecol 2007;196:198. 19. Hassan S, Romero R, Vidyadhari D, et al. Vaginal progesterone reduces the rate of pre‑term birth in women with a sonographic short cervix: a mul‑ ticenter, randomized, double‑blind, placebo‑controlled trial. Ultrasound Obstet Gynecol 2011;38:18. 20. Shane Michaels H, Nazareth S, Tambini L. Genetic counseling. In: Evans MI, Johnson MP, Yaron Y, et al., eds. Prenatal diagnosis: genetics, repro ductive risks, testing, and management . New York, NY: McGraw Hill Pub‑ lishing Co., 2006:71. 21. Drugan A, Reichler A, Bronshtein M, et al. Abnormal biochemical serum screening versus second trimester ultrasound‑detected minor anom‑ alies as predictors of aneuploidy in low‑risk patients. Fetal Diagn Ther 1996;11(5):301. 22. Drugan A, Johnson MP, Evans MI. Ultrasound screening for fetal chromo‑ some anomalies. Am J Med Genet 2000;90:98. 23. Benacerraf BR, Nadel A, Bromley B. Identification of second trimester fetuses with autosomal trisomy by use of a sonographic scoring index. Radiology 1994;193:135. 24. Wiwantikit V. Adjusted classification for ultrasound scoring index for ante‑ natal detection of fetal trisomy. Indian J Hum Genet 2012;18:226. 25. Evans MI, Cuckle HS. Performance Adjusted Risks (PAR): a method to improve the quality of algorithm performance while allowing all to play. Prenat Diagn 2011;31:797. 26. Lau TK, Evans MI. Second trimester sonographic soft markers: what can we learn from the experience of first trimester nuchal translucency screen‑ ing? Ultrasound Obstet Gynecol 2008;32:123. 27. Wright D, Syngelaki A, Bradbury D, et al. First trimester screening for Tri‑ somies 21, 18, and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 2014;35:118. 28. Haddow JE, Palomaki GE, Knight GJ, et al. Screening of maternal serum for fetal Down’s Syndrome in the first trimester. N Engl J Med 1998;338:955. 29. D’Alton ME. Nuchal translucency quality monitoring: the transition from research to clinical care. Obstet Gynecol 2010;116:806. 30. Evans MI, Krantz DA, Hallahan TW, et al. Undermeasurement of nuchal translucencies: implications for screening. Obstet Gynecol 2010;116:815. 31. Evans MI, Krantz D, Hallahan T, et al. Impact of NT credentialing by FMF, NTQR, or both upon screening distribution and performance. Ultrasound Obstet Gynecol 2012;39:181. 32. Souka AP, Von Kaisenberg CS, Hyett JA, et al. Increased nuchal translu‑ cency with normal karyotype. Am J Obstet Gynecol 2005;192:1005. 33. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175. 34. Bianchi DW, Simpson JL, Jackson LG, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. Pre nat Diagn 2002;22:609. 35. Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in mater‑ nal plasma and serum. Lancet 1997;350:485. 36. Lo YMD. Noninvasive prenatal detection of fetal chromosomal aneuploi‑ dies by maternal plasma nucleic acid analysis: a review of the current state of the art. BJOG 2009;116:152. 37. Ehrich M, Deciu C, Zwiefelhofer T, et al. Noninvasive detection of fetal tri‑ somy 21 by sequencing of DNA in maternal blood: a study in a clinical set‑ ting. Am J Obstet Gynecol 2011;204:205.e1‑11. 38. Sparks AB, Wang ET, Struble CA, et al. Selective analysis of cell free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012;32:3. 39. Bianchi DW, Wilkins‑Haug L. 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.
EL FETO COMO PACIENTE
Made with FlippingBook - Online Brochure Maker