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
Di George syndrome
Marta Ježová
Introduction

This syndrome occurs relatively often. Characteristic are serious congenital heart defects and immunodeficiency.

Etiology, pathogenesis
  • incidence: 1 : 6000 – 8000
  • genetics: microdeletion of the long arm of the 22nd chromosome
  • disorder of the embryonal development of the 3rd and 4th branchial arch, pouches and their derivates
Clinical signs
  • external features of the face:
    • hypertelorism
    • small recessive chin and mouth
    • narrow philtrum
    • backwards rotated auricles
  • severe hypoplasia or agenesis of the thymus
  • T cell immudeficiency: predisposion to diseminated viral and mycotic infections
  • agenesis of the parathyreoid glands: hypocalcemia, spasms of the newborn
  • congenital malformation of the palate: cleft palate, more often incomplete, ev. only cleft uvula
  • serious congenital heart defects, conotruncal defects (related to the outlet tract):
    • tetralogy of Fallot
    • ventricular septal defect
    • interruption of the aortic arch
    • pulmonary atresia
    • truncus arteriosus
    • double outlet right ventricle
    • transposition of the great arteries
  • syndrome shortcut: CATCH 22:
    • Cardiac defects
    • Abnormal facies
    • Thymic agenesis
    • Cleft palate
    • Hypocalcemia
    • 22 del
  • mortality: because of the heart defect it is about 8%
Case study
Syndrom Di George 1
Marta Ježová
History

20-week fetus, Di George (tetralogy of Fallot, hypoplastic thymus, cleft palate, abnormal face — small ears, cleft lip, del 22).

Pictures

Di George syndrome, cleft lip, microtia: Di George's syndrome, Macro, autopsy (72414)

Cleft lip, detail: Di George's syndrome, Macro, autopsy (72415)

Microtia, detail: Di George's syndrome, Macro, autopsy (72416)

Thymus hypoplasia, Di George syndrome: Di George's syndrome, Macro, autopsy (72417)

Di George syndrome, Fallot tetralogy: Di George's syndrome, Fallot's tetralogy, Macro, autopsy (72418)

Tetralogy of Fallot at Di George syndrome: Di George syndrome, Macro, autopsy (73182) Di George syndrome, Macro, autopsy (73183) Di George syndrome, Macro, autopsy (73184) Di George syndrome, Macro, autopsy (73185) Di George syndrome, Macro, autopsy (73186) Di George syndrome, Macro, autopsy (73187) Di George syndrome, Macro, autopsy (73188)

Case study
Di George syndrome 2
Marta Ježová
History
  • by routine ultrasound examination the congenital heart defect was found and consequently confirmed by the specialized cardiologic clinic
  • congenital malformation according to the clinicians: double outlet right ventricle, defect of the ventricular septum with aorta overriding the defect
  • cordocenthesis: karyotype 46XY, microdeletion 22q11 – 13
Clinical signs
  • Dg: Di George syndrome
  • pregnancy termination at 24 week of gestation
Macroscopic appearance
  • male 24th – 25-week fetus, weight 750 g, length 34.5 cm
  • mild micrognathia, palate is normal
  • agenesis of the thymus
  • complex congenital heart defects:
    • dextrocardia
    • perimembranous ventricular septal defect
    • valvular stenosis of the aorta, bicuspid valve
    • interruption of the aortic arch distal to a. carotis communis sinistra
    • leftsided vena cava superior
  • congenital malformation of the urogenital tract: left sided hydronephrosis
Conclusion

Interruption of the aortic arch is defect typical for the Di George syndrome. The ascending aorta is interruped in the arch usually distal to the a. carotis communis sin. The inflow of blood to the thoracic aorta is enabled only by patent ductus arteriosus. It is a critical heart defect with early neonatal manifestation.

Pictures

Face of a fetus: Di George's syndrome, Macro, autopsy (72363)

Agenesis of the thymus: Di George's syndrome, agenesis of the thymus, Macro, autopsy (72364)

Dexterocardia: Di George's syndrome, destrocardia, Macro, autopsy (72365) Di George's syndrome, destrocardia, Macro, autopsy (72366)

Perimembranous defect of the ventricular septum, view from the right ventricle: Di George's syndrome, ventricular septal defect, Macro, autopsy (72367)

Defect of the ventricular septum, view from the left ventricle: Di George's syndrome, ventricular septal defect, Macro, autopsy (72368)

Aorta, the branches are open before the interruption of the aortic arch: Di George's syndrome, Macro, autopsy (72369) Di George's syndrome, Macro, autopsy (72370)