Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Edwards syndrome
Etiology

Full trisomy 18 in 90% of the cases, mosaicism in 5% and translocations in 5%.

Clinical signs
  • incidence 1 : 7500 live births
  • the risk of having a child with trisomy 18 is increased with advanced maternal age
  • prenatal wastage is high, up to 95% of trisomy 18 conceptuses are spontaneously aborted
  • median survival is 6 days, only 5 — 10% survive beyond the first year of life
  • intrauterine growth retardation, failure to thrive
  • severe mental retardation
  • multiple congenital malformations and characteristic phenotypic features
Macroscopic appearance
  • External features: dolichocephaly, protuberant occiput, small triangular face, short horizontal palpebral fissures, small mouth, micrognathia, low-set malformed ears, short sternum, narrow pelvis, clenched fists, index finger overlapping the middle and ring fingers, hypoplastic nails, rocker bottom feet
  • Cardiovascular malformations: are seen in more than 90% of the cases
    • polyvalvular dysplasia: atrioventricular and semilunar valves are dysplastic with gelationous or nodular appearance
    • ventricular septal defect
    • bicuspid aortic or pulmonary valve
    • double outlet right ventricle
    • hypoplastic left heart
  • CNS malformations: abnormal gyri, cerebellar anomalies, hydrocephalus, neural tube defects
  • Urogenital malformations: horseshoe kidney, micromulticystic kidneys
  • Skeletal malformaions:radial aplasia
  • Malformations of diaphragm, omphalocele, ectopic pancreas, Meckels diverticulum
  • Single umbilical artery

Edwards syndrome, face (72101)

Edwards syndrome, heels (72102)

Pictures

Edwards syndrome, fetus, dysmorphic face: Syndrome Edwards, Macro, autopsy (72099)

Edwards syndrome, 26 week fetus, typical phenotype: Syndrome Edwards, Macro, autopsy (72100) Syndrome Edwards, Macro, autopsy (72101) Syndrome Edwards, Macro, autopsy (72102) Syndrome Edwards, Macro, autopsy (72103)

Another case, full term infant, trisomy 18; omphalocele, growth retardation, typical phenotypic features rocker bottom feet, overlapping fingers: Trisomy 18, Edwards, omphalocele, stigmata, Macro, autopsy (72514) Trisomy 18, Edwards, face, Macro, autopsy (72515)

Stillborn twin, trisomy 18, growth retardation, unilateral cleft lip, bilateral radial aplasia: Trisomy 18, Edwards, Macro, autopsy (72516) Trisomy 18, Edwards, Macro, autopsy (72517) Trisomy 18, Edwards (aplasia of the radium, club hand), Macro, autopsy (72518)

Fetus, trisomy 18, horseshoe kidney: Trisomy 18, Edwards, Macro, autopsy (72513)

Edwards syndrome, nuchal edema: Trisomy 18, Edwards, Macro, autopsy (73045)

Edwards syndrome: Edwards syndrome, Macro, autopsy (73281) Edwards syndrome, Macro, autopsy (73282)

Edwards syndrome: Edwards syndrome, Macro, autopsy (73283)

Edwards syndrome, fenotype of the fetus: Trisomy 18, Edwards, Macro, autopsy (73976)

Edwards syndrome: Trisomy 18, Edwards, Macro, autopsy (74375)

Edwards syndrome: Trisomy 18, Edwards, Macro, autopsy (74376) Trisomy 18, Edwards, Macro, autopsy (74377) Trisomy 18, Edwards, Macro, autopsy (74378) Trisomy 18, Edwards, Macro, autopsy (74379) Trisomy 18, Edwards, Macro, autopsy (74380) Trisomy 18, Edwards, Macro, autopsy (74381)

Case study
Edwards syndrome
Marta Ježová
History

Neonate 9 days old, trisomy 18. Typical phenotype and growth retardation were found. Congenital heart defect and ivolvement of the diaphragm were revealed during the autopsy.

Pictures

Growth retardation, phenotypic features (microcephaly, small triangular face, microstomia, micrognathia, microphtalmia, skin apendix on the cheek): Trisomy 18, Edwards, Macro, autopsy (72504)

Dysplastic low set ears, micrognathia: Trisomy 18, Edwards, Macro, autopsy (72505)

Overlapping fingers: Trisomy 18, Edwards, Macro, autopsy (72506)

Eventration of the left diaphragm: Trisomy 18, Edwards, Macro, autopsy (72507) Trisomy 18, Edwards, Macro, autopsy (72508)

Bicuspid dysplastic aortic valve, ventricular septal defect: Trisomy 18, Edwards, Macro, autopsy (72509) Trisomy 18, Edwards, Macro, autopsy (72510)

Bicuspid dysplastic pulmonary valve: Trisomy 18, Edwards, Macro, autopsy (72511)

Dysplastic tricuspid valve, ventricular septal defect in the place of the wire: Trisomy 18, Edwards, Macro, autopsy (72512)