Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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+ Atlas of fetal pathology
+ Congenital malformations
+ Physiological developement of an embryo and fetus, growth and changes of the external shape
+ Congenital malformations and congenital anomalies
+ Basic terminology
+ Etiology of congenital anomalies (CA)
+ Environmental causes of congenital anomalies, congenital infections
+ Rubella
+ Cytomegalovirus
+ Syphilis
+ Toxoplasmosis
+ Diabetes mellitus (DM) and pregnancy
+ Diabetic embryopathy
+ Diabetic fetopathy
+ Genetic causes of congenital malformations
+ Chromosomal abnormalities
+ Down syndrome
+ Klinefelter syndrome
+ Turner syndrome
+ Patau syndrome
+ Edwards syndrome
+ Triploidy
+ Single gene disorders
+ Tuberous sclerosis
+ Miscellaneous malformation syndromes, sequences and associations, unclassified
+ Sirenomelia (Mermaid syndrome)
+ Hydrops fetalis
+ Immune hydrops (erythroblastosis fetalis, hemolytic disease of the newborn)
+ Nonimmune hydrops
+ Hygroma colli cysticum
+ Pierre-Robin sequence
+ Caudal regression syndrome (sacral agenesis)
+ VACTERL association
+ Pathology of twinning
+ Complications of monochorionic diamnionic placentation
+ Chronic twin transfusion syndrome
+ Acute twin-twin transfusion
+ Complications of monochorionic monoamnionic placentation
+ Congenital malformations in twins
+ Chorangiopagus parasiticus (acardius)
+ Pathology of higher multiple gestations: triplets
+ Monsters
+ Monstra duplicia
+ Gemini monochoriati inequales
+ Duplicitas symmetros
+ Asymmetric dual monsters
+ Monstra simplicia
+ Congenital malformations of individual organ systems
+ Congenital malformations of the central nervous system
+ Congenital malformations of the spinal cord
+ Spina bifida
+ Myeloschisis (rachischisis posterior)
+ Congenital malformations of the brain
+ Anencephaly
+ Iniencephaly
+ Encephalocele
+ Arnold-Chiari malformation
+ Disorders of formation of the structures derived from the mediobasal prosencephalon
+ Migration disorders
+ Destructive lesions of fetal brain (disruptions)
+ Porencephaly
+ Hydranencephaly
+ Hydrocephalus
+ Dandy-Walker malformation
+ Intracranial non-neoplastic cysts
+ Arachnoid cyst
+ Neuroepithelial cyst
+ Congenital malformations of the respiratory system
+ Congenital cystic adenomatoid malformation (CCAM)
+ Lobar sequestration
+ Congenital lobar emphysema
+ Pulmonary hyperplasia
+ Pulmonary hypoplasia
+ Congenital pulmonary lymphangiectasia
+ Diaphragm and congenital malformations
+ Congenital malformations of kidneys and efferent urinary tracts
+ Renal agenesis
+ Variations of shape and position of the kidneys
+ Renal cystic disease
+ Infantile polycystic kidneys (ARKPD)
+ Renal dysplasia
+ Adult polycystic kidneys (ADPKD)
+ Autosomal dominant polycystic kidney disease in infant and fetus
+ Lower urinary tract obstruction
+ Posterior urethral valves
+ Congenital tubular renal dysgenesis
+ Urinary bladder
+ Hypospadia
+ Congenital malformations of genital system and somatosexual congenital disorders
+ Somatosexual disorders
+ Somatosexual disorders with normal karyotype
+ Pseudohermaphroditism masculinus
+ Androgen insensitivity syndrome, testicular feminization syndrome, female XY
+ Pseudohermaphroditism femininus
+ Congenital adrenal hyperplasia
+ Somatosexual disorders with pathologic karyotype
+ Congenital malformations of female genitalia
+ Congenital malformations of the internal genitalia
+ Congenital malformations associated with congenital malformations of urinary system
+ Congenital malformations of the vulva
+ Congenital malformations of the male genital organs
+ Cryptorchidism
+ Congenital malformations of penis and scrotum
+ Smith-Lemli-Opitz syndrome (SLOS)
+ Congenital tumors
+ Sacrococcygeal teratoma
+ Congenital cardiac rhabdomyoma
+ Congenital heart defects
+ Defects of heart septum
+ Atrial septal defects
+ Ventricular septal defects
+ AV septal defects
+ Anomalies of the great arteries
+ Transposition of the great arteries
+ Truncus arteriosus
+ Double-outlet right ventricle
+ Malformations of the valves
+ Tricuspid atresia
+ Stenosis and atresia of the mitral valve, the hypoplastic left heart syndrome
+ Stenosis of the pulmonary artery
+ Pulmonary atresia with intact ventricular septum
+ Tetralogy of Fallot
+ Aortic stenosis
+ Malformations of the aortic arch system
+ Persistence of ductus arteriosus
+ Coarctation of the aorta
+ Interruption of the aortic arch
+ Right-sided aortic arch
+ Malformations of the venous system
+ Anomalies of situs and heart position
+ Di George syndrome
+ Congenital malformations of the gastrointestinal tract
+ Oral cavity and the palate
+ Cleft lip and palate
+ Congenital defects of the esophagus
+ Atresia
+ Congenital esophagus stenoses
+ Congenital malformations of the stomach
+ Congenital malformations of the intestines
+ Atresia
+ Malrotation of the intestine
+ Remnants of the omphalomesentric duct
+ Anorectal malformations
+ Duplicatures
+ Defects of the abdominal wall
+ Omphalocele
+ Gastroschisis
+ Limb-body wall complex
+ Pentalogy of Cantrell
+ Developemental anomalies of the skeleton
+ Defects of growth of tubular bone and/or spine
+ Thanatophoric dysplasia
+ Diastrophic dysplasia
+ Abnormalities of density of cortical diaphyseal structure or metaphyseal modeling
+ Osteogenesis imperfecta
+ Limb malformations
+ Terminal transverse limb defects
+ Radial ray defects
+ Finger anomalies
+ Club foot
+ Constriction (amniotic) band syndrome
+ Placental inflammation
+ Ascending infections
+ Placental inflammation, acute
+ Hematogenous infections
+ Fetomaternal listeriosis
+ Pathology of the fetal membranes
+ Amniotic band syndrome
+ Meconium staining
+ Candida infection of the placenta
+ Pathology of the placenta
+ Normal placenta
+ Extrauterine gravidity
+ Gestational trophoblastic disease (GTD)
+ Hydatidiform mole
+ Complete mole
+ Partial mole
+ Invasive mola (mole proliferans, mole destruens)
+ Gestational choriocarcinoma
+ Placental site trophoblastic tumor
+ Placenta and major chromosomal abnormalities
+ Hydropic placenta
+ Pathology of the umbilical cord
+ Abnormal length
+ Short cord
+ Long cord
+ Insertion abnormalities
+ Abnormal coiling
+ Umbilical vessels pathology
+ Umbilical cord accidents which compromise the blood flow
+ Thrombosis of umbilical blood vessels
+ Umbilical cord inflammation
+ Acute funisitis
+ Subacute necrotizing funisitis
+ Miscellaneous rare cord lesions
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)