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
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+ 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
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+ Arachnoid cyst
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+ 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
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+ Congenital malformations of genital system and somatosexual congenital disorders
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+ Androgen insensitivity syndrome, testicular feminization syndrome, female XY
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+ 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
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+ 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
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+ Stenosis of the pulmonary artery
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+ Atresia
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+ Anorectal malformations
+ Duplicatures
+ Defects of the abdominal wall
+ Omphalocele
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+ 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
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+ Constriction (amniotic) band syndrome
+ Placental inflammation
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+ Abnormal length
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+ Acute funisitis
+ Subacute necrotizing funisitis
+ Miscellaneous rare cord lesions
Diabetic embryopathy
Introduction

The incidence of congenital malformations in infants of diabetic mothers is increased 2 to 4 times compared to general population. These malformations are frequently multiple.

Macroscopic appearance

Typical congenital malformations reported in diabetic embryopathy:

  • heart defects: double outlet right ventricle, transposition of the great vessels, tetralogy of Fallot
  • skeletal defects: caudal regression anomaly  —  agenesis/dysgenesis of caudal vertebrae, hypoplasia of lower limbs. (see caudal regresion syndrome); caudal regression has the strongest association with diabetes (occuring more than 200 times more frequently in infants of diabetic mothers than in other infants):
    • femoral hypoplasia
    • upper limb defects
    • amelia
  • neural tube defects (anencephaly, spina bifida)
  • VACTERL association (see VACTERL)

Acrania (73619)

Etiology

Teratogenic effect of diabetes occurs during the critical 2 to 6 weeks after conception. The exact cause of the teratogenic effect is not known. Specialized preconceptional and prenatal care with strict glycemic control reduce the likelihood of congenital defects. There is close correlation between the incidence of congenital malformations and glykosylated hemoglobin HbA1c values. If optimal glycemic control is achieved prior conception and maintained during the gestation, the malformation rates decrease similar to those in the healthy population.

This risk is the same for diabetes mellitus of type 1 and 2.

Peroral antidiabetics are contraindicated during pregnancy.

Case study
Diabetic embryopathy
Marta Ježová
History

37 — year old woman with type 2 diabetes mellitus, obesity and hypertension. There was no preconceptional and prenatal care. The mother continued on peroral anditiabetics. Second trimestr ultrasonography revealed multiple congenital malformations of the fetus. The aborted fetus was macerated.

Final diagnosis: diabetic embryopathy.

Macroscopic appearance

Macerated 17-week male fetus.

  • caudal regression anomaly, phocomelia of the lower limbs
  • polydactyly of the left lower rudimentary limb
  • cleft palate
  • micrognathia
  • microtia
  • heart defect: double outlet right ventricle with ventricular septal defect

It was not possible to examine the brain and kidneys because of severe maceration of the fetus.

Pictures

Macerated 17-week fetus with phocomelic diabetic embryopathy: Diabetic embryopathy, Macro, autopsy (72753)