Boardman. Neonatología_8ed
CAPÍ TULO 10 • Diagnóstico y tratamiento prenatales en la era molecular: indicaciones, procedimientos y técnicas de laboratorio 135
135. Willig LK, Petrikin JE, Smith LD, et al. Whole‑genome sequencing for identification of Mendelian disorders in critically ill infants: a retro‑ spective analysis of diagnostic and clinical findings. Lancet Respir Med 2015;3:377. 136. Zegers‑Hochschild F, Adamson GD, et al. The International Glossary on Infertility and Fertility Care, 2017. Hum Reprod 2017;32:1786. 137. Handyside AH, Robinson MD, Simpson RJ, et al. Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol Hum Reprod 2004;10:767. 138. Eggerding FA. A one‑step coupled amplification and oligonucleotide liga‑ tion procedure for multiplex genetic typing. PCR Methods Appl 1995; 4, 337. 139. Zheng H, Jin H, Liu L, et al. Application of next‑generation sequencing for 24 chromosome aneuploidy screening of human preimplantation embryos. Mol Cytogenet 2015;8:38. doi: 10.1186/s13039‑015‑0143‑6 140. Maxwell SM, Colls P, Hodes‑Wertz B, et al. Why do euploid embryos mis‑ carry? A case control study comparing the rate of aneuploidy within pre‑ sumed euploid embryos that resulted in miscarriage or live birth using next‑generation sequencing. Fertil Steril 2016;106:1414. 141. Lai HH, Chuang TH, Wong LK, et al. Identification of mosaic and seg‑ mental aneuploidies by next‑generation sequencing in preimplantation genetic screening can improve clinical outcomes compared to array‑com‑ parative genomic hybridization. Mol Cytogenet 2017;10:14. doi: 10.1186/ s13039‑017‑0315‑7 142. Gleisher N, Vidali A, Braverman J, et al. Accuracy of preimplanta‑ tion genetic screening (PGS) is compromised by degree of mosaicism of human embryos. Reprod Biol Endocrinol 2016;14:54. doi: 10.1186/ s12958‑016‑0193‑6 143. Griffin DK, Ogur C. Chromosomal analysis in IVF: just how useful is it? Reproduction 2018;156:F29. doi: 10.1530/REP‑17‑0683 144. Nash E. Unprecedented wave of abortion bans is an urgent call for action . Guttmacher Institute, 2019. 145. Pryde PG, Odgers AE, Isada NB, et al. Determinants of parental decision to abort (DTA) or continue for non‑aneuploid ultrasound detected abnor‑ malities. Obstet Gynecol 1992;80:52. 146. Natoli JL, Ackerman DL, McDermott S, et al. Prenatal diagnosis of Down Syndrome: a systematic review of termination rates (1995‑2011). Prenat Diagn 2012;32:142. 147. Deng C, Yi L, Mu Y, et al. Recent trends in the birth prevalence of Down Syndrome in China: impact of prenatal diagnosis and subsequent termi‑ nations. Prenat Diagn 2015;35:311. 148. Abortion Statistics, England and Wales 2018 . UK Dept of Health and Social Care, 2019. Available from: https://assets.publishing.service.gov. uk/government/uploads/system/uploads/attachment_data/file/808556/ Abortion_Statistics__England_and_Wales_2018__1_.pdf 149. Abortion resources . Guttmacher Institute, January 2014. Available from: http://www.guttmacher.org/sections/abortion.php 150. Raymond ED, Grimes DA. The comparative safety of legal induced abor‑ tion and childbirth in the United States. Obstet Gynecol 2012;119:215. 151. Gatter M, Cleland K, Nucatola DL. Efficacy and safety of medical abortion using mifepristone and buccal misoprostol through 63 days. Contracep tion 2015;91:269. 152. Chasen ST, Kalish RB, Gupta M, et al. Dilatation and evacuation at > or =20 weeks: comparison of operative techniques. Am J Obstet Gynecol 2004;190:1180. 153. Dommergues M, Benachi A, Benifla J, et al. The reasons for termina‑ tion of pregnancy in the third trimester. Br J Obstet Gynaecol 1999;106: 297. 154. Cartwirght AF, Karunaratne M, Barr‑Walker J, et al. Identifying national availability of abortion care and distance from major US cities: system‑ atic online search. J Med Internet Res 2018;20:e156. 155. Hern WM. Fetal diagnostic indications for second and third trimester out‑ patient pregnancy termination. Prenat Diagn 2014;34:438. 156. Phil Kline is indefinitely suspended from practicing law . Kansas City Star. October 18, 2013. Available from: http://www.kansascity. com/2013/10/18/4560734/kline‑indefinitely‑suspended‑from.html 157. An overview of abortion laws . Guttmacher Institute. October 1, 2019. Available from: https://www.guttmacher.org/state‑policy/explore/over‑ view‑abortion‑laws 158. Evans MI, Andriole SA, Britt DW. Fetal reduction—25 years’ experience. Fetal Diagn Ther 2014;35:69.
105. Evans MI, Vermeesh JR. Current controversies in prenatal diagnosis 3: industry drives innovation in research and clinical application of genetic prenatal diagnosis and screening. Prenat Diagn 2016;36:1172. 106. Williams J, Rad S, Beauchamp S, et al. Utilization of noninvasive prenatal testing: impact upon referrals for diagnostic testing. Am J Obstet Gynecol 2015;213:102.e1‑6. 107. Best S, Wou K, Vora N, et al. Promises, pitfalls and practicalities of prena‑ tal whole exome sequencing. Prenat Diagn 2018;38:10. 108. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screen‑ ing for fetal aneuploidy, 2016 update: a position statement of the Ameri‑ can College of Medical Genetics and Genomics. Genet Med 2016;18:1056. 109. Angelis A, Tordrup D, Kanavos P. Socio‑economic burden of rare diseases: a systematic review of cost of illness evidence. Health Policy 2015;119: 964. 110. http://www.iihs.org/iihs/topics/t/general‑statistics/fatalityfacts/state‑by‑ state‑overview. October 1, 2019. 111. http://time.com/5011599/gun‑deaths‑rate‑america‑cdc‑data/. October 1, 2019. 112. https://www.cdc.gov/hiv/statistics/overview/ataglance.html. October 1, 2019. 113. Coulter ME, Miller DT, Harris DJ, et al. Chromosomal microarray testing influences medical management. Genet Med 2011;13:770. 114. Wapner RJ, Martin CL, Levy B, et al. Chromosomal Microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175. 115. Shaffer LM, Dabell MP, Fisher AJ, et al. Experience with microarray‑based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn 2012;32:976. 116. Henry GP, Britt DW, Evans MI. Screening advances and diagnostic choice: the problem of residual risk. Fetal Diagn Ther 2008;23:308. 117. Rosenfeld JA, Patel A. Chromosomal microarrays: understanding genet‑ ics of neurodevelopmental disorders and congenital anomalies. J Pediatr Genet 2017;6:42. 118. van Ommen GJ, Breuning MH, Raap AK. FISH in genome research and molecular diagnostics. Curr Opin Genet Dev 1995;5(3):304. 119. Trask BJ. Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet 1991;7(5):149. 120. Pinkel D, Straume T, Grey JW. Cytogenetic analysis using quantitative, high‑sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A 1986;83:2934. 121. Sullivan BA, Leana‑Cox J, Schwartz S. Clarification of subtle reciprocal rearrangements using fluorescent in situ hybridization. Am J Med Genet 1993;47:223. 122. Karampetsou M, Morrogh D, Chitty L. Microarray technology for the diag‑ nosis of fetal chromosome aberrations: which platform should we use? J Clin Med 2014;20:663. 123. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromo‑ somal microarray is a first‑tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749. 124. Sagoo GS, Butterworth AS, Sanderson S, et al. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta‑analysis of 19 studies and 13,926 subjects. Genet Med 2009;11(3):139. 125. Manning M, Hudgins L. Array‑based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010;12(11):742. 126. Lord J, McMullan DJ, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019;393(10173):747. 127. Srebniak MI, Joosten M, Knapen MFCM, et al. Frequency of submicrosco‑ pic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta‑analy‑ sis. Ultrasound Obstet Gynecol 2018;51:445. 128. Levy B, Wapner RJ. Prenatal diagnosis by chromosomal microarray anal‑ ysis. Fertil Steril 2018;109:201. 129. Hui, L, Norton M. What is the real “price” of more prenatal screening and fewer diagnostic procedures? Costs and trade‑offs in the genomic era. Prenat Diagn 2018;38:246. 130. Committee opinion No. 682: microarray and next‑generation sequenc‑ ing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Committee on Genetics. Obstet Gynecol 2016;128:e262. 131. Yang Y, Muzny DM, Reid JG, et al. Clinical whole‑exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 2013;369:1502. 132. Deciphering Developmental Disorders Study. Large‑scale discovery of novel genetic causes of developmental disorders. Nature 2015;519:223. 133. Reches A, Hiersch L, et al. Whole‑exome sequencing in fetuses with cen‑ tral nervous system abnormalities. J Perinatol 2018;38(10):1301. 134. Petrovski S, Aggarwal V, et al. Whole‑exome sequencing in the evalu‑ ation of fetal structural anomalies: a prospective cohort study. Lancet 2019;393:758.
EL FETO COMO PACIENTE
159. Evans MI, Dommergues M, Wapner RJ, et al. Efficacy of transabdomi‑ nal multifetal pregnancy reduction: collaborative experience among the world’s largest centers. Obstet Gynecol 1993;82:61. 160. Evans MI, Kaufman M, Urban AJ, et al. Fetal reduction from twins to a singleton: a reasonable consideration. Obstet Gynecol 2004:104:232. 161. Evans MI, Rosner M, Andriole S, et al. Evolution of gender preferences in multiple pregnancies. Prenat Diagn 2013;33:935. SAMPLE
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