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
Nonimmune hydrops
Classification

The main causes of nonimmune hydrops are enumerated below. However no definite cause of hydrops can be found in about 20% cases of nonimmune hydrops despite extensive investigations (so called idiopathic hydrops).

  1. Hematologic disorders:
    • Homozygous α thalassemia
    • Hemolytic disorders (glucose-6-phosphatase deficiency)
    • Twin to twin tranfusion: chronic fetofetal transfusion of the twins
    • chronic fetomaternal hemorrhage/transfusion where the fetus may bleed into maternal circulation if the fetomaternal circulation becomes disrupted. This is sometimes caused by overt trauma but the exact cause cannot be identified in most cases. This condition can be proved by Kleihauer Betke test which detects fetal erythrocytes (containing the fetal variant of hemoglobin HbF) in maternal blood smear.
  2. Cardiovascular:
    • Some congenital structural heart defects, for example hypoplastic left heart syndrome, Ebstein anomaly, premature closure of the foramen ovale
    • Vascular malformations with AV shunting in fetus or placenta (large chorangioma)
    • Nonstructural anomalies
    • Fetal supraventricular tachycardias  —  relatively common, the prognosis is excellent
    • Congenital AV block  —  this condition is found in pregnancies complicated by maternal systemic lupus erythematosus. The conduction system in the fetal heart is damaged by maternal antinuclear antibodies which cross the placental barrier.
    • Bradycardia associated with complex structural heart defects — asplenia/polysplenia syndromes, AV septal defect etc. The prognosis is very poor.
    • Acardius, see the chapter Acardius
    • Cardiac tumors (rhabdomyoma)
  3. Intrauterine infections:
    • human parvovirus B19 may be the cause of as much as one third of all cases of hydrops fetalis. This highly contagious virus is the etiological agens of the fifth disease (erythema infectiosum) and severe aplastic anemia in patients with congenital hemolytic diseases. The virus directly attacks red cells precursors. The virus is transmitted tranplacentally and causes severe fetal anemia, hydrops or miscarriage. Itranuclear eosinophilic inclusions can be found in the nuclear red cells in fetal tissues. PCR is used to confirm the diagnosis. The virus is not teratogenic.
    • congenital syphilis
    • TORCH infections
  4. Storage disorders: There is a wide range of rare metabolic conditions which have been described with fetal hydrops (Gaucher disease will be mentioned as the only example).
  5. Chromosomal syndromes:
    • Turner syndrome, see the chapter Turner syndrome
    • Trisomies
  6. Abdominal and thoracic tumors and masses:
    • congenital cystic adenomatoid malformation of lungs, see CCAM case study
    • tracheal/laryngeal atresia
    • diaphragmatic hernia
    • polycystic kidneys
    • fetal neoplasms (neuroblastoma)
  7. Genetic syndromes:
    • chondrodysplasias
    • lethal multiple pterygium syndrome
    • tuberous sclerosis
  8. Miscellaneous:
    • congenital nephrotic syndrome
    • GIT atresia and duplication
    • lower urinary tract obstruction
Pictures

28-week liveborn infant, idiopathic hydrops fetalis; The infant died 1 hour after birth of pulmonary hypoplasia: Hydrops fetus universalis, Macro, autopsy (72539)

Hydrops; congenital hepatoblastoma: Hydrops fetus universalis, hepatoblastoma, Macro, autopsy (70353) Hydrops fetus universalis, hepatoblastoma, Macro, autopsy (70354) Hydrops fetus universalis, hepatoblastoma, Macro, autopsy (70355) Hepatoblastoma, Macro, autopsy (70462) Hepatoblastoma, Macro, autopsy (70402) Hepatoblastoma, Macro, autopsy (70403)

30-week liveborn infant, hydrops fetalis. Complex cardiac defect (AV septal defect, total anomalous return of pulomary veins) complicated by bradycardia in utero. Left-sided isomerism  —  polysplenia. Fetal hydrops, Macro, autopsy (72781)

1-week stillborn infant, hydrops fetalis. Hypoplastic left heart syndrome in trisomy 13. Fetal hydrops, trisomy 13, Macro, autopsy (72782)

21-week fetus, hydrops fetalis with prominent ascites. Congenital cystic adenomatoid lung malformation: Fetal hydrops, Macro, autopsy (72779)