Enfermedades graves con diagnóstico prenatal
ISSN: 1132-1989, 2386-3773
Año de publicación: 2012
Volumen: 23
Número: 77
Páginas: 195-214
Tipo: Artículo
Otras publicaciones en: Cuadernos de bioética
Resumen
The aim of this article is to present the published information until this moment about the survival, long term effects and quality of life of the diseases named by the Bioethics Committee of the Spanish Society of Gynaecologist and Obstetricians (SEGO) as extremely severe and untreatable diseases, subsidiary of a Voluntary Termination of Pregnancy after the 22 weeks of gestational age, according to the Organic Law 2/2010 of Sexual and Reproductive Health and Voluntary Termination of Pregnancy. Health professionals must know the medical aspects, the therapeutics advances and the outcomes of these diseases, and it is a high standard of professional ethics to transmit this information to the progenitors.
Referencias bibliográficas
- Silverman A. «Over treatment of neonates? A personal retrospective». Pediatrics 90, (1992), 971-76.
- Stahlman MT. «Ethical issues in the nursery: Priorities versus limits». Journal of Pediatrics 16, (1990), 167-70.
- Hoffman, J. I. & Kaplan, S. «The incidence of congenital heart disease». Journal of the American College of Cardiology 39, (2002), 1890-1900.
- Wren C., Reinhardt Z. & Khawaja K. «Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations». Archives of disease in childhood Fetal and Neonatal Edition 93, (2008), F33–F35.
- Dolk H, Loane M, Garne E, and a European Surveillance of Congenital Anomalies (EUROCAT) Working Group. «Congenital Heart Defects in Europe. Prevalence and Perinatal Mortality, 2000 to 2005». Circulation 123, (2011), 841-849.
- Bradley S. Marino, MD, MPP, MSCE Ryan S. Tomlinson, BSE et al. «Quality-of life concerns differ among patients, parents and medical providers in children and adoclescents with congenital and adquired heart disease». Pediatrics 13, (2009) e708e715.
- Celermajer DS, Dodd SM, Greenwald SE,Wyse RK, Deanfield JE. «Morbid anatomy in neonates with Ebstein’s anomaly of the tricuspid valve». Journal of the American College of Cardiology 19, (1992), 1049-53.
- Celermajer DS, Cullen S, Sullivan ID, Spiegelhalter DJ,Wyse RK, Deanf ield JE. «Outcome in neonates with Ebstein’s anomaly». Journal of the American College of Cardiology 19, (1992), 1041-6.
- Umar S. Boston, MD, Steven O. Goldberg, MD et al. «Complete repair of Ebstein Anomaly in neonates and young infants: a 6 year follow- up». The journal of thoracic and cardiovascular surgery 141, (2011), 1163-9.
- Jones RC, Goldberg SP, Haddad L, Boston US, Chin TK, Kelsey RM, et al. «Current trends in the management of neonates with Ebstein’s anomaly». The annals of thoracic surgery. In press.
- Reemtsen BL, Fagan BT,Wells WJ, Starnes VA. «Current surgical therapy for Ebstein’s anomaly in neonates». The journal of thoracic and cardiovascular surgery, 132, (2006), 1285-90.
- Shinkawa T, Polimenakos AC, Gomez-Fifer CA, Charpie JR, Hirch JC, Devaney EJ, et al. «Management and long-term outcome of neonatal Ebstein’s anomaly». The journal of thoracic and cardiovascular surgery, 139, (2010), 354-8.
- Brackley KJ, Kilby MD, Wright JG, Brawn WJ, Sethia B, Stumper O, Holder R, Wyldes MP, Whittle MJ. «Outcome after prenatal diagnosis of hypoplastic left-heart syndrome: a case series». Lancet, 356, (2000), 1143-1147.
- Fraisse A, Nassi C, Sigaudy S, Liprandi A, Piercecchi-Marti MD, Ligi I, Bonnet JL, Camboulives J, Metras D, Guillaumont S. «Outcome of infants with hypoplastic left heart syndrome diagnosed in utero». Archives des maladies du coeur et des vaisseux, 95, (2002), 473-477.
- Allan LD, Apfel HD, Printz BF. «Outcome after prenatal diagnosis of the hypoplastic left heart syndrome». Heart, 79, (1998), 371-374.
- Andrews R, Tulloh R, Sharland G, Simpson J, Rollings S, Baker E, Qureshi S, Rosenthal E, Austin C, Anderson D. «Outcome of staged reconstructive surgery for hypo plastic left heart syndrome following antenatal diagnosis». Archives of disease in childhood, 85, (2001), 474-477.
- Verheijen PM, Lisowski LA, Plantinga RF, Hitchcock F, Bennink G, Stoutenbeek P, Meijboom EJ. «Prenatal diagnosis of the fetus with hypoplastic left heart syndrome: management and outcome». Herz, 28 (2003), 250-256.
- Rasiah SV, Ewer AK, Miller P, Wright JG, Barron DJ, Brawn WJ, Kilby MD. «Antenatal perspective of hypoplastic left heart syndrome: 5 years on». Archives of disease in childhood Fetal and Neonatal Edition, 93, (2008), F192-F197.
- A. Galindo, O. Nieto, S. Villagrá, A. Grañeras, I. Herraiz, A. Mendoza. «Hypoplastc Leith heart syndrome diagnosed un fetal life: associated findings, pregnancy outcome an results of palliative surgery». Ultrasound in Obstethrics and Gynecology, 33, (2009), 560-566.
- Tweddell JS, Hoffman GM, Mussatto KA, Fedderly RT, Berger S, Jaquiss RDB, Ghanayem NS, Frisbee SJ, Litwin SB. «Improved survival of patients undergoing palliation of hypoplastic left heart syndrome: lessons learned from 115 consecutive patients». Circulation, 106 (suppl I), (2002), 82-89.
- Pigula FA, Vida V, del Nido PJ, Bacha E. «Contemporary results and current strategies in the management of hypoplastic left heart syndrome». Seminars in Thoracic and Cardiovascular Surgery, 19, (2007), 238-244.
- McGuirk SP, Griselli M, Stumper OF, et al. «Staged surgical management of hypoplastic left heart syndrome: a single institution 12 year experience». Heart, 92, (2006), 364.
- Mahle WT, Spray TL, Wernovsky G, et al. «Survival after reconstructive surgery for hypoplastic left heart syndrome: A 15-year experience from a single institution». Circulation, 102, (2000), 136.
- Azakie T, Merklinger SL, McCrindle BW, et al. «Evolving strategies and improving outcomes of the modified norwood procedure: a 10-year singleinstitution experience». The annals of thoracic surgery,72, (2001), 1349.
- Jack Rychick. «Hypoplastic Left heart syndrome: from in-utero diagnosis to School age». Seminars in Fetal and Neonatal Medicine, 10, (2005), 553-566.
- Jenkins PC, Chinnock RE, Jenkins KJ, et al. «Decreased exercise performance with age in children with hypoplastic left heart syndrome». Journal of Pediatrics,152, (2008), 507.
- Sarajuuri A, Jokinen E, Puosi R, et al. «Neurodevelopment in children with hypoplastic left heart syndrome». Journal of Pediatrics, 157, (2010), 414.
- Tabbutt S, Nord AS, Jarvik GP, et al. «Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome». Pediatrics, 121, (2008), 476.
- Heinemann MK, Hanley FL, Van Praagh S, Fenton KN, Jonas RA, Mayer Jr JE, Castaneda AR. «Total anomalous pulmonary venous drainage in newborns with visceral heterotaxy». The annals of thoracic surgery, 57 (1), (1994), 88-91.
- Lim JS, McCrindle BW, Smallhorn JF, Golding F, Caldarone CA, Taketazu M, Jaeggi ET. «Clinical features, management, and outcome of children with fetal and postnatal diagnoses of isomerism syndromes». Circulation, 112(16), (2005), 2454-61.
- Andrew M. Atz, Meryl S. Cohen et al. «Functional state of patients with heterotaxy syndrome following the Fontan operation». Cardiology in the Young, 17 (suppl. 2), (2007), 44-53.
- Bartz PJ, Driscoll DJ, Dearani JA, et al. «Early and late results of the modified fontan operation for heterotaxy syndrome 30 years of experience in 142 patients». Journal of the American College of Cardiology, 48, (2006), 2301-2305.
- Wu MH, Wang JK, Lin JL, et al. « Supraventricular tachycardia in patients with right atrial isomerism». Journal of the American College of Cardiology, 32, (1998), 773-779.
- Machado MVL, Tynan MJ, Curry PVL, Allan LD. «Fetal complete heart block». British Heart Journal, 60, (1988), 512-515.
- Schmidt KG, Ulmer HE, Silverman NH, Kleinman CS, Copel JA. «Perinatal outcome of fetal complete atrioventricular block: a multicenter experience». Journal of the American College of Cardiology, 17, (1991), 1360-1366.
- Gembruch U, Hansmann M, Redel DA, Bald R, Knopfle G. «Fetal complete heart block: antenatal diagnosis, significance and management». European Journal of Obstetrics, Gynecology and Reproductive Biology, 31, (1989), 9-22.
- Kiymaz N, Yilmaz N, Demir I, Keskin S. «Prognostic factors in patients with occipital encephalocele». Pediatric Neurosurgery, 46, (2010), 6.
- Jimenez DF, Barone CM. «Encephaloceles, meningoceles, and dermal sinuses». In: Principles and Practice of Pediatric Neurosurgery, Albright AL, Pollack IF, Adelson PD (Eds), Thieme Medical Publishers, New York 1999. p.189.
- French BN. «Midline fusion defects and defects of formation». In: Neurological Surgery, Youmans JR (Ed), WB Saunders, Philadelphia 1990. p. 1164.
- Chumas P, Tyagi A, Livingston «J. Hydrocephalus-what’s new?» Archives of disease in childhood Fetal and Neonatal Edition, 85, (2001), F149.
- Graham E, Duhl A, Ural S, Allen M, Blakemore K, Witter F. «The degree of antenatal ventriculomegaly is related to pediatric neurological morbidity». The Journal of Maternal-Fetal Medicine 10, (2001), 258–263.
- P. Gaglioti, D. Danelon, S. Bontempo, et al. «Fetal cerebral ventriculomegaly: outcome in 176 cases». Ultrasound in Obstethrics and Gynecology, 25, (2005), 372-377.
- Boluc M-E, Plessis AJ, Sullivan N, et al. «Spectrum of neurodevelopmental disabilities in childen with cerebellar malformations». Developmental Medicine and Child Neurology, 53, (2011), 409-416.
- Riva D, Giorgi C. «The cerebellum contributes to higher functions during development: evidence from a series of children surgically treated for posterior fossa tumors». Brain, 123, (2000), 1051-61.
- Schmahmann JD. «Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome». The Journal of Neuropsychiatry and Clinical Neurosciences, 16, (2004), 367-78.
- Habas C, Kamdar N, Nguyen D, et al. «Distinct cerebellar contributions to intrinsic connectivity networks». The Journal of Neuroscience, 29, (2009), 8586-94.
- Boddaert N, Klein O, Ferguson N, et al. «Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation». Neuroradiology, 45, (2003), 320-4.
- Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. «Dandy-Walker malformation: prenatal diagnosis and prognosis». Childs Nervous System, 19, (2003), 484-9.
- Fratelli N, Papageorghiou AT, Prefumo F, et al. «Outcome of prenatally diagnosed agenesis of the corpus callosum». Prenatal Diagnosis, 27, (2007), 512.
- Aicardi J. «The agyria- pachygyria complex: a spectrum of cortical malformations». Brain and Development, 13, (1991), 1-8.
- Granata T, BattaglG, D’INcerti L, et al. «Schizencephaly: clinical findings». In: Dysplasias of the cerebral cortex and epilepsy, Guerrini R, Lippincott-Raven, ed. Philadelphia, 1996, 407-415.
- Dommergues M, Louis-Sylvestre C, Mandelbrot L, et al. «Congenital diaphragmatic hernia: can prenatal ultrasonography predict outcome?» American Journal of Obstetrics and Gynecology, 174, (1996), 1377-1381.
- Geary MP, Chitty LS, Morrison JJ, Wright V, Pierro A, Rodeck CH. «Perinatal outcome and prognostic factors in prenatally diagnosed congenital diaphragmatic hernia». Ultrasound in Obstethrics and Gynecology, 12, (1998), 107-111.
- Downard CD, Jaksic T, Garza JJ, et al. «Analysis of an improved survival rate for congenital diaphragmatic hernia». Journal of Pediatric Surgery, 38, (2003), 729-732.
- Muratore CS, Kharasch V, Lund DP, et al. «Pulmonary morbidity in 100 survivors of congenital diaphragmatic hernia monitored in a multidisciplinary clinic». Journal of Pediatric Surgery, 36, (2001), 133-140.
- AUChiu PP, Sauer C, Mihailovic A, Adatia I, Bohn D, Coates AL, Langer JCSOJ. «The price of success in the management of congenital diaphragmatic hernia: is improved survival accompanied by an increase in longterm morbidity?» Journal of Pediatric Surgery, 41 (5), (2006), 888.
- Vanamo K. «A 45-year perspective of congenital diaphragmatic hernia». British Journal of Pediatric Surgery, 83, (1996), 1758.
- Rescorla FJ, Shedd FJ, Grosfeld JL, et al. «Anomalies of intestinal rotation in childhood: analysis of 447 cases». Surgery, 108, (1990), 710.
- Rasheed A, Tindall S, Cueny DL, et al. Neurodevelopmental outcome after congenital diaphragmatic hernia: extracorporeal membrane oxygenation before and after surgery». Journal of Pediatric Surgery, 36, (2001), 539-44.
- Muratore CS, Utter S, Jaksic T, Lund DP, Wilson JM. «Nutritional morbidity in survivors of congenital diaphragmatic hernia». Journal of Pediatric Surgery, 36, (2001), 1171-1176.
- Jancelewicz T, Vu LT, Keller RL, et al. «Long-term surgical outcomes in congenital diaphragmatic hernia: observations from a single institution». Journal of Pediatric Surgery, 45, (2010), 155.
- Santo S, Mansour S, Thilaganathan B et al. «Prenatal diagnosisof noninmune hydrops ftalis: what do we tell the parents?» Prenatal Diagnosis, 31, (2011), 186-195.
- Randenberg AL. «Nonimmune hydrops fetalis part II: does etiology inf luence mortality?» Neonatal Network, 29(6), (2010 Nov-Dec), 367-80.
- Haverkamp F, Noeker M, Gerresheim G, Fahnenstich H. 2000. «Good prognosis for psychomotor development in survivors with nonimmune hydrops fetalis» BJOG: an international journal of obstetrics and gynaecology, 107, (2000), 282-284.
- Nakayama H, Kukita J, Hikino S, et al. 1999. «Long-term outcome of 51 liveborn neonates with non-immune hydrops fetalis». Acta Paediatrica, 88, (1999), 24-28.
- Douglas Wilson. «Management of fetal tumors». Best Practice and Research. Clinical Obstetrics and Gynaecology, 22 (1), (2008), 159-173.
- A. Riquet, J-M Cuisset, JC Cuvellier, S. Joriot, F. Petit, L. Vallée. «Characteristics of tuberous sclerosis in children». Archives de Pédiatrie, 17 (9), 2010 Sep, 1338-45.
- Crino PB, Nathanson KL, Henske EP. «The tuberous sclerosis complex». The New England Journal of Medicine, 355, (2006), 1345-56.