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
Chronic twin transfusion syndrome

There are anastomoses between the circulations of the two fetuses in the monochorionic placenta.


Types of anastomoses:

  • arterio — arterial (a-a) superficial
  • veno — venous (v-v) superficial
  • arterio — venous (a-v) deep
Clinical signs
  • with balanced blood flow in both directions, the fetuses are not in danger
  • if the blood flow is unbalanced, predominantly one way — because of majority of large a-v anastomoses, where the pressure gradient makes the blood flow from the artery into the vein, the effect is that one twin, the donor, has decreased blood volume (hypovolemia), while the other twin, the recipient, has increased blood volume (hypervolemia)
  • neither fetus has optimal conditions for further intrauterine growth, one or both can die
  • this condition usually begins around 20th w.g., 15 – 30% monochorionic diamniotic twins present this syndrome


  • intrauterine death of one or both twins
  • serious intrauterine problems result into premature delivery, high perinatal mortality and morbidity
  • possible intervention:
    • amnioreduction
    • in some cases it is possible to occlude the anastomoses (laser ablation)
Macroscopic appearance
  • Donor:
    • intrauterine growth retardation
    • anemic
    • oligohydramnion (with insufficient renal perfusion the fetus has decreased urinary output)
    • compressed in the uterus by overpressure of the other twin's polyhydramnion, stuck twin
    • deformites of lower limbs
    • often it has a velamentous umbilical cord insertion
  • Recipient:
    • larger fetus, thrives on the expenses of the donor twin
    • plethoric
    • polyhydramnion
    • cardiac hypertrophy as a result volume overload, congestive heart failure
    • hepatosplenomegaly
    • ascites, hydropericardium and hydrops — severe generalized edema
    • usually central insertion of the umbilical cord

Chronic twin transfusion syndrome (72409)


Chronic twin transfusion syndrome: Twins, fetofetal transfusion, Macro, autopsy (72409)

Another case of chronic twin transfusion syndrome: Twins, feto-fetal transfusion, Macro, autopsy (73975)

Case study
Fetofetal transfusion syndrome
Marta Ježová

Spontanous twin gestation, ultrasound examination in 18th w.g shows two female fetuses, severe fetofetal transfusion, donor — stuck twin, no congenital malformations; recipient with hepatosplenomegaly and also no congenital malformations.

Macroscopic appearance
  • Twin A — donor:
    • female
    • body weight 152 g
    • body length 21.5 g
    • weight of brain 35.7 g
    • weight of liver 5.5 g
    • weight of heart 0.67 g
    • intrauterine growth retardation
    • bladder and ureter hypoplasia
    • deformites of lower limbs
    • agenesis of the left umbilical artery
  • Twin B — recipient:
    • female
    • body weight 210 g
    • body length 16.5 cm
    • weight of brain 39.5 g
    • weight of liver 16.53 g!
    • weight of heart 2.21 g!
    • urinary bladder dilatation, coiled ureters
    • has both umbilical arteries
  • Placenta:
    • monochorionic diamnionic
    • insertion of the twin septum is distictly asymmetric (oligohydramnion versus polyhydramnion)
    • Twin A (donor): marginal (paraseptal) insertion of the umbilical cord
    • Twin B (recipient): central insertion of the umbilical cord
    • A-V anastomoses were found