title: [Congenital anomalies of poor prognosis. Genetics Consensus Committee].
abstract: BACKGROUND
  The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law.
  
  
  METHODS
  Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it.
  
  
  RESULTS
  It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP.
  
  
  CONCLUSIONS
  A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing.
authors.affiliation: Sección Genética, Hospital Clínico Universidad de Chile, Santiago, Chile; Unidad de Genética, Hospital Sótero del Río, Puente Alto, Chile. Electronic address: roanpavar@yahoo.com.
authors.forename: Rosa A
authors.initials: RA
authors.lastname: Pardo Vargas
authors.affiliation: Unidad de Genética, Hospital Luis Calvo Mackenna, Santiago, Chile; Unidad de Genética y Enfermedades Metabólicas, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile; Clínica Santa María, Santiago, Chile.
authors.forename: Mariana
authors.initials: M
authors.lastname: Aracena
authors.affiliation: Sección Genética, Hospital Clínico Universidad de Chile, Santiago, Chile; Unidad de Genética, Hospital Sótero del Río, Puente Alto, Chile; Clínica Indisa, Santiago, Chile.
authors.forename: Teresa
authors.initials: T
authors.lastname: Aravena
authors.affiliation: Unidad de Genética, Hospital Sótero del Río, Puente Alto, Chile; Clínica Dávila, Santiago, Chile.
authors.forename: Carolina
authors.initials: C
authors.lastname: Cares
authors.affiliation: Centro de Enfermedades Raras, Clínica Las Condes, Santiago, Chile.
authors.forename: Fanny
authors.initials: F
authors.lastname: Cortés
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas, INTA, Universidad de Chile, Santiago, Chile.
authors.forename: Víctor
authors.initials: V
authors.lastname: Faundes
authors.affiliation: Unidad de Genética, Hospital Sótero del Río, Puente Alto, Chile; Unidad de Genética y Enfermedades Metabólicas, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Mellado
authors.affiliation: Servicio de Pediatría, Hospital Carlos Van Buren, Valparaíso, Chile.
authors.forename: Cristóbal
authors.initials: C
authors.lastname: Passalacqua
authors.affiliation: Sección Genética, Hospital Clínico Universidad de Chile, Santiago, Chile; Sección Genética, Hospital San Juan de Dios, Santiago, Chile.
authors.forename: Patricia
authors.initials: P
authors.lastname: Sanz
authors.affiliation: Sección Genética, Hospital Clínico Universidad de Chile, Santiago, Chile; Clínica Alemana, Santiago, Chile.
authors.forename: Silvia
authors.initials: S
authors.lastname: Castillo Taucher
mesh_terms: D000025:Abortion, Eugenic / Q000331:legislation & jurisprudence*; D000029:Abortion, Legal / Q000331:legislation & jurisprudence; D002677:Chile; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011379:Prognosis
keywords: Abortion; Aborto; Alteraciones cromosómicas; Anomalías congénitas; Chromosomal aberrations; Congenital anomalies; Prognosis; Pronóstico