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
VACTERL association

VACTERL is an acronym for:

  • V  —  Vertebral anomalies
  • A  —  Anal atresia
  • C  —  Cardiovascular anomalies
  • T  —  Tracheoesophageal fistula
  • E  —  Esophageal atresia
  • R  —  Renal anomalies
  • L  —  Limb anomalies

These anomalies occur together more frequent than would be expected by chance alone (see definition of association). VACTERL can be diagnosed when at least 3 organ systems are involved.

Etiology, pathogenesis

Most cases are sporadic. More frequent in infants of diabetic mothers A common developemental pathogenesis is a defective mesodermal developement (for example a mesodermal septum between the future esophageus and trachea fails to develope). Precise etiology is unknown.

Clinical signs
  • incidence: is approximately 1  –   2: 10 000 live births
  • lesions:
    • anorectal atresia
    • esophageal atresia, tracheoesophageal fistula (and vice versa, 50% of patients with esophageal atresia present with another VACTERL anomaly)
    • various heart defects
    • enal malformatiosn  —  dysplasia, agenesis etc.
    • skeletal anomalies  —  hemivertebrae, congenital scoliosis, caudal regression, rib anomalies
    • limb malformations  —  radial/preaxial anomalies are specific for VACTERL
    • single umbilical artery is extremely common
    • intrauterine growth retardation
    • associated anomalies except for the cardinal defects which constitute the VACTERL are frequent:
      • hydrocephalus (VACTERL-H )
      • laryngeal atresia
      • tracheal agenesis
      • pulmonary agenesis
      • duodenal atresia etc.
  • Prognosis: prognosis is poor because of multiorgan involvement; Potter sequence is a common consequence of renal anomalies

VACTERL has often similar features to sirenomely.

VACTERL has often similar feauters to another associations which belong to the range of mesodermal dysplasias (CHARGE, TACRD etc.)


VATER association was described in 1973. The association has been expanded to include cardiovascular anomalies among the cardinal features and this constitute the VACTERL acronym used at present.

VACTERL, anorectal atresia (72760)

VACTERL, anorectal atresia (72765)

VACTERL, atresia of the esophagus (72763)

VACTERL, fetus (72767)


21-week fetus, VACTERL association; anorectal aresia and rectovesical fistula; hypoplastic urinary blader; single umblicical artery: VACTERL association, Macro, autopsy (72765)

Rectovesical fistula, detail: VACTERL association, Macro, autopsy (72766)

Case study
VACTERL association 1
Marta Ježová

This pregnency was terminated because of a congenital heart defect diagnosed prenataly in the fetus. An autoptic examinaton revealed multiple anomalies associated with the heart defect.

Final diagnosis: VACTERL association.

Macroscopic appearance
  • 22-week male fetus
  • heart defect: pulmonary atresia with vetricular septal defect, dextroposition of the dilatated aorta; persisting left superior vena cava draining into the coronary sinus.
  • anorectal atresia
  • esophageal atresia, broad tracheoesophageal fistula
  • laryngeal atresia
  • right thumb hypoplasia
  • single umbilical artery; velamentous insertion of the umbilical cord
  • intestinal malrotation

Perineum, imperforate anus: VACTERL association, Macro, autopsy (72760)

Intestinal malrotation, the appendix is seen in the midline, distended rectum proximal to the atresia: VACTERL association, Macro, autopsy (72761)

Abnormal shape of the heart with right ventricular hypertrophy, right lateral displacement of the aorta: VACTERL association, Macro, autopsy (72762)

Esophageal atresia, broad tracheoesophagela fistula: VACTERL association, Macro, autopsy (72763)

Laryngeal atresia (occlusion by cartilage): VACTERL association, Macro, autopsy (72764)

Case study
VACTERL association 2 (with hydrocephalus)
Marta Ježová

Ultrasonographic examination in the 2nd trimestr showed multiple congenital malformations including hydrocephalus, abnormal fused vertebrae, ambigous genitalia. Pregnancy was terminated and the VACTERL association was confirmed by fetal autopsy.

Final diagnosis: VACTERL association with hydrocephalus.

Macroscopic appearance
  • 20-week female fetus
  • macrocephaly, low set ears, short neck
  • limb deformities due to oligohydramnion
  • hydrocephalus internus
  • esophageal atresia; tracheoesophageal fistula
  • multicystic dysplasia of the left kidney and agenesis of the right kidney
  • anorectal atresia; a skin appendage in the anal region
  • congenital scoliosis — hemivertebrae and missing ribs, fusion of vertebrae
  • thumb hypoplasia
  • cardiovascular anomaly: right-sided aortic arch, persisting left vena cava superior
  • single umbilical artery
  • agenesis of external genitalia; agenesis of the vagina and urinary bladder; uterus, fallopian tubes and ovaries were normal

Macrocephaly, short neck, libm deformities, skin appendage in the anal region: VACTERL association, Macro, autopsy (72767)

Thumb hypoplasia (appendix digitiformis without phalangae): VACTERL association, Macro, autopsy (72768)

Agenesis of external genitalia, absent anus, vaginal and urethral openings: VACTERL association, Macro, autopsy (72769)

Anorectal atresia, bowel distension proximal to atresia: VACTERL association, Macro, autopsy (72770)

Scolisosis, hemivertebrae and missing ribs: VACTERL association, Macro, autopsy (72771)