Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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+ Introduction
+ Using this atlas
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+ Support
+ Support
+ 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
Disorders of formation of the structures derived from the mediobasal prosencephalon
Introduction

The prosencephalon is the anterior end of the neural tube. It consists of the telencephalon which gives rise to the cerebral hemispheres and striatum and the diencephalonwhich gives rise to thalamus, hypothalamus globus pallidus and eye. The term “midline field defects” is also used for this group of defects.

Classification

Several malformations belong to this category:

Holoprosencephaly

  • the most serious defect from this group of anomalies; prosencephalon has not divided into two parts supposed to become the hemispheres
  • 3 forms (according to the degree of division):
    • alobar:very small spherical brain undivided into hemispheres or lobes
    • semilobar: two hemispheres partially separated by shallow interhemispheric fissure which is best seen occipitally
    • lobar: almost complete separation of the hemispheres except for small parts of anterior lobes or gyrus cinguli which is fused
  • other CNS anomalies are also often present, depending on the severity of the original defect:
    • absence of bulbus and tractus olphactorius
    • absence of corpus striatum and corpus callosum
    • fused thalamus
    • anomalies of the cortex
    • glioneural heterotopy
    • anomalies of the circle of Willis
  • crainofacial dysmorphology is always found, the rule is the face predicts the brain
    • cyclopia: single eye, absent nose, supraorbital proboscis
    • ethmocephaly: closely set eyes, absent nose, interorbital proboscis
    • cebocephaly: closely set eyes, flattened nose with single nostril
    • median cleft lip, closely set eyes, small flattened nose
    • hypertelorism, microphtalmy, unilateral or bilateral cleft lip can be seen as well
  • etiology: often is associated with these chromosomal aberrations: trisomies and abnormalities of chromosomes 13 and 18; it is also associated with chemical teratogens (for example alcohol)
  • most of the affected fetuses are stillborn or die right after the birth

Corpus callosum agenesis

It is a common malformation. The agenesis can be complete or partial. Agenesis corpus callosum is either an isolated malformation or associated with other CNS defects (holoprosencephaly, Arnold Chiari) and a wide range of variable human malformations. Clinical symptomatology largely depends on associated anomalies. Psychomotoric delay is frequent but isolated cases can be asymptomatic. Occipital horns of the lateral ventricles are dilated. This sign is also usefull in prenatal diagnosis.

Arhinencephaly

  • the least serious from this group
  • means the mere absence of olfactory bulbs and tracts, usually bilateral
  • either isolated or associated with other CNS malformations

Holoprosencephalie (73301)

Holoprosencephalie, mozek (73301)

Agenesis corporis callosi (73264)

Agenesis corporis callosi (73265)

Pictures

Holoprosencephaly: Holoprosencephaly, Macro, autopsy (72104) Holoprosencephaly, Macro, autopsy (72059)

Holoprosencephaly: Holoprosencephaly, Macro, autopsy (73293) Holoprosencephaly, Macro, autopsy (73294) Holoprosencephaly, Macro, autopsy (73295) Holoprosencephaly, Macro, autopsy (73296) Holoprosencephaly, Macro, autopsy (73297)

Holoprosencephaly, macro and US video: Holoprosencephaly, Macro, autopsy (73298) Holoprosencephaly, Macro, autopsy (73299) Holoprosencephaly, Macro, autopsy (73300) Holoprosencephaly, Macro, autopsy (73301) Holoprosencephaly, Macro, autopsy (73302) Holoprosencephaly, Macro, autopsy (73303) Holoprosencephaly, Macro, autopsy (73304) Holoprosencephaly, Macro, autopsy (73305) Holoprosencephaly, Ultrasound, video (74017)

Holoprosencephaly, semilobar: Holoprosencephaly, semilobar, Macro, autopsy (73673) Holoprosencephaly, semilobar, Macro, autopsy (73674) Holoprosencephaly, semilobar, Macro, autopsy (73675)

Corpus callosum agenesis: Agenesis corporis callosi, Macro, autopsy (72036) Agenesis corporis callosi, Macro, autopsy (72037) Agenesis corporis callosi, Macro, autopsy (72035)

Normal corpus callosum (for comparison): Corpus callosum, normal, Macro, autopsy (72082)

Another case of corpus callosum agenesis, macro and US video: Agenesis of the corpus callosum, Macro, autopsy (73264) Agenesis of the corpus callosum, Macro, autopsy (73265) Agenesis corporis callosi, Ultrasound, video (74028)

Agenesis corporis callosi: Agenesis corporis callosi, Macro, autopsy (74336) Agenesis corporis callosi, Macro, autopsy (74337) Agenesis corporis callosi, Macro, autopsy (74338)

Agenesis corporis callosi: Agenesis corporis callosi, Macro, autopsy (74339) Agenesis corporis callosi, Macro, autopsy (74340)