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[Congenital anomalies of poor prognosis. Genetics Consensus Committee]
Rosa A Pardo Vargas1, Mariana Aracena2, Teresa Aravena3
1Sección Genética, Hospital Clínico Universidad de Chile, Santiago, Chile; Unidad de Genética, Hospital Sótero del Río, Puente Alto, Chile.
Revista Chilena De Pediatria
|May 29, 2016
Summary
Experts defined Congenital Anomalies of Poor Prognosis (CAPP) to better inform abortion law, replacing "incompatible with life" with a more accurate term based on scientific evidence.
Area of Science:
- Medical Genetics
- Fetal Medicine
- Pediatric Surgery
Background:
- Chilean Society of Paediatrics' Genetic Branch reviewed draft abortion law concerning fetal anomalies.
- Focus on the second ground for abortion: "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb".
- Need to evaluate scientific evidence for including specific congenital anomalies (CA) in the law.
Purpose of the Study:
- To discuss and define scientific evidence regarding congenital anomalies (CA) relevant to abortion law.
- To propose a new term, "congenital anomaly of poor prognosis" (CAPP), replacing "incompatible with life outside the womb".
- To identify specific CA that fit the CAPP definition.
Main Methods:
- Clinical genetics experts reviewed literature on 10 specific CA.
- Analysis included prevalence, natural history, prenatal diagnosis, survival rates, and prolonged survival cases.
- Classification as CAPP considered post-natal survival, treatment options, outcomes, and natural history without intervention.
Main Results:
- Agreed to use "congenital anomaly of poor prognosis" (CAPP) instead of "incompatible with life outside the womb" due to survival exceptions.
- Evaluated 10 CA: anencephaly, pulmonary hypoplasia, acardiac fetus, ectopia cordis, triploidy, limb body wall complex, body stalk anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis.
- Detailed findings on prevalence, diagnosis, and survival were analyzed for each CA.
Conclusions:
- Defined CAPP to include: anencephaly, severe pulmonary hypoplasia, acardiac fetus, 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.
- Recommended universal access to fetal anatomy ultrasound, MRI, and cytogenetic/molecular testing for accurate diagnosis.
- This classification aids in legal and medical decision-making regarding pregnancies with severe fetal anomalies.
Keywords:
AbortionAbortoAlteraciones cromosómicasAnomalías congénitasChromosomal aberrationsCongenital anomaliesPrognosisPronósticoMore Related Videos
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