Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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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
Patau syndrome
Etiology

Full trisomy 13 is found in most cases. Translocation is present in 20% of the cases, mosaicism in less than 10%.

Clinical signs
  • incidence 1 : 4000 – 1 : 10000 live births
  • the risk of having a child with trisomy 13 is increased with advanced maternal age
  • prenatal wastage is high, up to 95% of trisomy 13 conceptuses are spontaneously aborted
  • median survival is 2,5 days and only 5% of liveborn infants with trisomy 13 survive longer than 6 months
  • longer survival is associated with mosaicism and partial trisomy, these cases also show milder phenotype
  • severe mental retardation
  • intrauterine growth retardation
  • characteristic triad: microphtalmia, cleft lip and palate, polydactyly
Macroscopic appearance
  • External features: microcephaly, receding forhead, low-set dysmorphic ears, clef lip and/or palate, broad nose, prominent glabella, scalp defects at vertex of head (aplasia cutis), postaxial polydactyly midline facial defects associated with holoprosencephaly
  • Cardiovascular system: various malformations are seen in 80% of the cases including ventricular septal defects, atrial septal defects, dextrocardia, pulmonary stenosis etc.
  • CNS malformations: in approximately 50% of cases; arhinencephaly — holoprosecephaly, corpus callosum agenesis, cerebellar anomalies neural tube defects
  • Ocular malformation:are seen in 90% of the cases: microphtalmy, coloboma, retinal dysplasia, cataracts
  • Deafness
  • Urogenital: micromulticystic kidneys, cryptorchidism is constant in males, penis and scrotum are small, uterus bicornis is commonly seen in females
  • Omphalocele, ectopic pancreas in spleen, Meckels diverticulum
  • Single umbilical artery

Patau syndrome, face (72148)

Patau syndrome, polydactyly (72149)

Pictures

Patau syndrome, fetus: Patau's syndrome, trisomy 13, Macro, autopsy (72147) Patau's syndrome, trisomy 13, polydactyly, Macro, autopsy (72149) Patau's syndrome, trisomy 13, face, Macro, autopsy (72148)

Patau syndrome, 28-week fetus: Patau's syndrome, trisomy 13, Macro, autopsy (73050) Patau's syndrome, trisomy 13, Macro, autopsy (73051) Patau's syndrome, trisomy 13, Macro, autopsy (73052)

Patau syndrome: Trisomy 13, Patau, Macro, autopsy (73313) Trisomy 13, Patau, Macro, autopsy (73314)

Patau syndrome: Trisomy 13, Patau, Macro, autopsy (73315) Trisomy 13, Patau, Macro, autopsy (73316) Trisomy 13, Patau, Macro, autopsy (73317) Trisomy 13, Patau, Macro, autopsy (73318) Trisomy 13, Patau, Macro, autopsy (73319) Trisomy 13, Patau, Macro, autopsy (73320) Trisomy 13, Patau, Macro, autopsy (73321) Trisomy 13, Patau, Macro, autopsy (73322)

Another case: Syndrome Patau, Macro, autopsy (74414) Syndrome Patau, Macro, autopsy (74415) Syndrome Patau, Macro, autopsy (74416) Syndrome Patau, Macro, autopsy (74417) Syndrome Patau, Macro, autopsy (74418)