Boardman. Neonatología_8ed

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PARTE 2 • El feto como paciente

75. Eddleman KA, Malone FD, Sullivan L, et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 2006;108:1067. 76. Wapner RJ, Evans MI, Platt LD. Pregnancy loss rates after amniocentesis. Obstet Gynecol 2007;109:780. 77. Nicolaides KH. Pregnancy loss rates after amniocentesis. Obstet Gynecol 2007;109:781. 78. Squier M, Chamberlain P, Zaiwalla Z, et al. Five cases of brain injury fol‑ lowing amniocentesis in mid‑term pregnancy. Dev Med Child Neurol 2000;42(8):554. 79. Rosner M, Pergament E, Andriole S, et al. Detection of genetic abnormali‑ ties using CVS and FISH prior to fetal reduction in sonographically nor‑ mal appearing fetuses. Prenat Diagn 2013;33:940. 80. Evans MI, Rozner N, Yaron Y, et al., eds. Prenatal diagnosis: genetics, reproductive risks, testing, and management . New York, NY: McGraw Hill Publishing Co., 2006:433. 81. Rudnicki M, Vejerslev LO, Junge J. The vanishing twin: morphologic and cytogenetic evaluation of an ultrasonographic phenomenon . Gynecol Obstet Invest 1991;31:141. 82. Johnson MP, Drugan A, Koppitch FC, et al. Postmortem CVS is a better method for cytogenetic evaluation of early fetal loss than culture of abor‑ tus material. Am J Obstet Gynecol 1990;163:1505. 83. Drugan A, Johnson MP, Isada NB, et al. The smaller than expected first tri‑ mester fetus is at increased risk for chromosome anomalies. Am J Obstet Gynecol 1992;167:1525. 84. Silverman NS, Sullivan MW, Jungkind DL, et al. Incidence of bacteremia associated with chorionic villus sampling. Obstet Gynecol 1994;84(6):1021. 85. Rhoads GG, Jackson LG, Schlesselman SE, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 1989;320:609. 86. Ledbetter DH, Martin AO, Verlinsky Y, et al. Cytogenetic results of cho‑ rionic villus sampling: high success rate and diagnostic accuracy in the United States collaborative study. Am J Obstet Gynecol 1990;162:495. 87. Brun JL, Mangione R, Gangbo F, et al. Feasibility, accuracy and safety of chorionic villus sampling: a report of 10741 cases. Prenat Diagn 2003;23(4):295. 88. Ledbetter DH, Zachary JL, Simpson MS, et al. Cytogenetic results from the US collaborative study on CVS. Prenat Diagn 1992;12(5):317. 89. Grati FR. Chromosomal mosaicism in human feto‑placental develop‑ ment: implications for prenatal diagnosis. J Clin Med 2014;3:809. 90. Ledbetter DH, Zachary JM, Simpson JL, et al. Cytogenetic results from the U.S. collaborative study on CVS. Prenat Diagn 1992;12:317. 91. Kotzot D. Abnormal phenotypes in uniparental disomy (UPD): fundamen‑ tal aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 1999;265. 92. Evans MI, Greb A, Kazazian Jr HH, et al. In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. Am J Obstet Gynecol 1991;165:728. 93. Evans MI, Krivchenia EL, Johnson MP, et al. In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dys‑ trophy. Fetal Diagn Ther 1995;10(2):71. 94. Holzgreve W, Golbus MS. Prenatal diagnosis of ornithine transcarbamy‑ lase deficiency utilizing fetal liver biopsy. Am J Hum Genet 1984;36:320. 95. Evans MI, Holzgreve W, Krivchenia, et al. Tissue biopsies. In: Evans MI, Johnson MP, Yaron Y, et al., eds. Prenatal diagnosis: genetics, reproduc tive risks, testing, and management . New York, NY: McGraw Hill Publish‑ ing Co., 2006:449. 96. Hsu LYF, Kaffe S, Perlis TE. A revisit of trisomy 20 mosaicism—an over‑ view of 103 cases. Prenat Diagn 1991;11:7. 97. Freda VJ, Adamson KJ. Exchange transfusion in utero . Am J Obstet Gyne col 1964;89:817. 98. Daffos F, Cappella‑Pavlovsky M, Forestier F. Fetal blood sampling via the umbilical cord using a needle guided by ultrasound: report of 66 cases. Prenat Diagn 1983;3:271. 99. Nicolaides KH, Soothill PW, Rodeck CH, et al. Ultrasound guided sampling of umbilical cord and placental blood to access fetal well being. Lancet 1986;1:1065. 100. Berkowitz RL, Bussel JB, McFarland JG. Alloimmune thrombocytopenia: state of the art 2006. Am J Obstet Gynecol 2006;195:907. 101. Harman CR, Bowman JM, Manning FA, et al. Intrauterine transfusion: intraperitoneal versus intravascular approach: a case control compari‑ son. Am J Obstet Gynecol 1990;162:1053. 102. Gilbert R, Petersen E. Toxoplasmosis and pregnancy . 2018. Available from: https://www.uptodate.com/contents/toxoplasmosis‑and‑pregnancy. Accessed October 1, 2019. 103. Evans MI, Anriole S, Curtis J, et al. The epidemic of abnormal copy number variants missed because of reliance upon noninvasive prenatal screening. Prenat Diagn 2018;38:730.

46. Jacobson JB, Barter RH. Intrauterine diagnosis and management of genetic defects. Am J Obstet Gynecol 1967;99:795. 47. National Institute of Child Health and Human Development Amniocentesis Registry. The safety and accuracy of midtrimester amniocentesis. DHEW publication no (NIH) 788dtr . Washington, DC: United States Department of Health, Education and Welfare, 1978. 48. Fletcher JC, Evans MI. Maternal bonding in early fetal ultrasound examina‑ tions. N Engl J Med 1983;308:392. 49. Evans MI, Drugan A, Koppitch FC, et al. Genetic diagnosis in the first tri‑ mester: the norm for the 90s. Am J Obstet Gynecol 1989;160:1332–1336. 50. Rhoads GG, Jackson LG, Schlesselman SE, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnor‑ malities. N Engl J Med 1989;320:609. 51. Mujezinovic F, Alfierivic Z. Procedure related complications of amniocen‑ tesis and chorionic villus sampling: a systematic review. Obstet Gynecol 2007;110:687. 52. Wulff CB, Gerds TA, Rode L, et al. Risk of fetal loss associated with inva‑ sive testing following combined first trimester screening for Down Syn‑ drome: a national cohort of 147,987 singleton pregnancies. Ultrasound Obstet Gynecol 2016;47:48. 53. Akolekar R, Beta J, Picciarelli G, et al. Procedure‑related risk of miscar‑ riage following amniocentesis and chorionic villus sampling: a systematic review and meta‑analysis. Ultrasound Obstet Gynecol 2015;45:16. 54. Firth HV, Boyd PA, Chamberlain P, et al. Severe limb abnormalities after chorionic villus sampling at 56–66 days’ gestation. Lancet 1991;337:762. 55. Hanson FW, Happ RL, Tennant FR, et al. Ultrasonography‑guided early amniocentesis in singleton pregnancies. Am J Obstet Gynecol 1990;162: 1376. 56. Wilson RD. Early amniocentesis: a clinical review. Prenat Diagn 1995;15: 1259. 57. NHS fetal Anomaly Screening Program. Available from: www.fetalanomaly. screening.nhs.uk. Accessed August 28, 2019. 58. Cohn GM, Gould M, Miller RC, et al. The importance of genetic counseling before amniocentesis. J Perinatol 1996;16:352. 59. Evans MI, Hume RF, Johnson MP, et al. Integration of genetics and ultra‑ sonography in prenatal diagnosis: just looking is not enough. Am J Obstet Gynecol 1996;174:1925. 60. Benaceraff BR, Frigoletto FD. Amniocentesis under continuous ultrasound guidance: a series of 232 cases. Obstet Gynecol 1983;62:760. 61. Drugan A, Evans MI. Amniocentesis. En: Evans MI, Johnson MP, Yaron Y, et al., eds. Prenatal diagnosis: genetics, reproductive risks, testing, and management . New York, NY: McGraw Hill Publishing Co., 2006:415. 62. Cuckle HS. Epidemiology of aneuploidy. En: 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. 63. Yukobowich E, Anteby EY, Cohen SM, et al. Risk of fetal loss in twin preg‑ nancies undergoing second trimester amniocentesis. Obstet Gynecol 2001;98:876. 64. Van der Pol JS, Wolf H, Boer K, et al. Jejunal atresia related to the use of methylene blue in genetic amniocentesis in twins. Br J Obstet Gynaecol 1992;99:141. 65. Drugan A, Sokol RJ, Syner FN, et al. Clinical implications of amniotic fluid AFP in twin pregnancies. J Reprod Med 1989;34:977. 66. Firth HV, Boyd PA, Chamberlain PF, et al. Analysis of limb reduc‑ tion defects in babies exposed to chorionic villus sampling. Lancet 1994;343(8905):1069. 67. Elejalde BR, deElejalde MM, Acuna JA, et al. Prospective study of amnio‑ centesis performed between weeks 9 and 16 of gestation: its feasibility, risks, complications and use in early genetic prenatal diagnosis. Am J Med Genet 1990;35:188. 68. Hanson FW, Tennant F, Hune S, et al. Early amniocentesis: outcome, risks and technical problems at less than 12.8 weeks. Am J Obstet Gynecol 1992;166:1707. 69. Johnson JM, Wilson RD, Winsor EJ, et al. The early amniocentesis study: a randomized clinical trial of early amniocentesis versus midtrimester amniocentesis. Fetal Diagn Ther 1996;11:85. 70. Tabor A, Phillip J, Masden M, et al. Randomized controlled trial of genetic amniocentesis in 4606 low risk women. Lancet 1986;1:1287. 71. Odibo AO, Gray DL, Dicke JM, et al. Revisiting the fetal loss rate after sec‑ ond trimester genetic amniocentesis: a single center’s 16 year experience. Obstet Gynecol 2008;111:589. 72. Blessed WB, Lacoste H, Welch RA. Obstetrician‑gynecologists performing genetic amniocentesis may be misleading themselves and their patients. Am J Obstet Gynecol 2001;184:1340. 73. Royal College of Obstetricians and Gynaecologists (RCOG). Amniocente sis and Chorionic Villus Sampling. Green Top Guideline No.8 . London, England: RCOG Press, 2010. 74. Wilson RD, Langlois S, Johnson JA; SOGC Genetics Committee; CCMG Prenatal Diagnosis Committee. Mid‑trimester amniocentesis fetal loss rate. J Obstet Gynaecol Can 2007;29:586.

104. Evans MI, Wapner RJ, Berkowitz RL. Non invasive prenatal screening or advanced diagnostic testing: caveat emptor. Am J Obstet Gynecol 2016;215:298. SAMPLE