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Basic Pathology > Congenital Abnormalities > Flashcards

Congenital Abnormalities Flashcards

1
Q

Morphogenesis

A

Organ and tissue development in the fetus.

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2
Q

Malformations:
-Definition

A
  • Intrinsic error of fetal development –> morphological defect of an organ / part of an organ / larger region of the body.
  • Primary errors.
  • Result of single gene / chromosomal defect OR multifactorial (more common).
  • Can involve single body systems or multiple.
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3
Q

Malformations:
-Examples

A
  • Polydactyly (one or more extra digits).
  • Syndactyly (fusion of digits).
  • Cleft lip +/- cleft palate.
  • Complex congenital heart disease.
  • Large abdominal wall defects.
  • Neural tube defects.
  • Hirschsprungs (absence of nerve cells in colon).
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4
Q

Disruptions:
-Definition

A
  • Extrinsic distrubance in foetal development –> morphological defect of an organ / part of an organ / larger region of body.
  • Secondary destruction of organs / body region that was previously normal in development.
  • Not heritable.
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5
Q

Disruptions:
-Examples

A
  • Amniotic bands.
  • Environmental agents.
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6
Q

Deformations:
-Definition

A
  • Extrinsic disturbance of development.
  • An abnormal form, shape or position of part of the body caused by mechanical forces.
  • Pathogenesis = localised or generalised compression of growing fetus by abnormal forces.
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7
Q

Deformations:
-Maternal factors contributing to excessive compression

A
  • Uterine constraint.
  • First pregnancy.
  • Small uterus.
  • Malformed (bicornuate) uterus (heart shaped uterus).
  • Leiomyomas (uterine fibriods).
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8
Q

Deformations:
-Foetal / placental factors contributing to excessive compression

A
  • Oligohydramnios (decreased amniotic fluid for gestation).
  • Multiple foetusus.
  • Abnormal foetus presentation.
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9
Q

Deformations:
-Examples

A

Talipes equiovarus (club feet).

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10
Q

Sequence:
-Definition

A
  • Cascade of anomalies triggered by one initiating defect / issue.
  • Can result in malformation, disruption, or deformation.
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11
Q

Sequence:
-Examples

A

Oligohydramnios sequence (aka Potter sequence) =
Significant oligohydramnios^ –> foetal compression –> talipes equinovarus, flattened facies, positioning defects of hands, breech presentaion, pulmonary hypoplasia +/- hip dislocation +/- amnion nodosum (amnion nodules)

Causes = amniotic leak, renal agenesis, foetal urinary tract obstruction, uteroplacental insufficiency.

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12
Q

Malformation syndrome:
-Definition

A
  • Group of congenital abnormalities that are pathologically related (i.e. not explained by single initiating defect).
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13
Q

Malformation syndrome:
-Examples

A

Fused / ill-formed mid-face with maldevelopment of brain and cardiac defects.

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14
Q

Agenesis

A

Complete abscence of an organ and its associated primordium.^

^Primordium = organ, structure, or tissue in earliest stage of development.

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15
Q

Aplasia

A

Absence of an organ secondary to failure of existing primordium growth.

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16
Q

Atresia

A

Absence of an opening (usually hollow visceral organs e.g. trachea, intestine, bile duct).

17
Q

Hypoplasia

A

Decreased cell numbers –> incomplete development or decreased size of an organ.

18
Q

Hyperplasia

A

Increased cell numbers –> overdevelopment or increased size of an organ.

19
Q

Hypotrophy

A

Decreased cell size –> organ abnormality.

20
Q

Hypertrophy

A

Increased cell size –> organ abnormality.

21
Q

Dysplasia

A

Abnormal organisation of cells.

22
Q

Genetic causes of congenital abnormalities

A
  • Chromosomal syndromes (10 - 15%).
  • Mendelian inheritance (2 - 10%).
23
Q

Genetic causes of congenital abnormalities:
-Example of Mendelian inheritance

A

Holoprosencephaly (abnormal development of brain) secondary to loss of Hedghog signalling.

24
Q

Environmental causes of congenital abnormalities

A

Maternal / placental infections:

  • Rubella.
  • Toxoplasmosis.
  • Syphilis.
  • CMV.
  • HIV

Maternal disease status:

  • Diabetes.
  • PKU.
  • Endocrinopathies (including severe obesity).

Drugs and chemicals:

  • EtOH, smoking.
  • Folic acid antagonists.
  • Androgens.
  • Phenytoin.
  • Thalidomide.
  • Warfarin.
  • 13-cis-retinoic acid.
25
Q

What does a positive AChE stain indicate and what disease is this seen in

A

Indicates:

  • Indicates loss of ganglion cells (nerve cells in colon).

Seen in:

  • Hirschsprungs.
26
Q

Malformations:
Lymphatic malformation:
-What is it, how can it be identified histologically and why

A

What it is:

  • Intrinsic error of foetal development.
  • Abnormal swellings consisting of multiple lymphatic cysts.
  • Cysts contains lymphatic vessels which do not connect to normal lymphatic system.

Histology:

  • Use D2-40 stain.

Why:

  • D2-40 is a monoclonal antibody which reacts to podoplanin.
  • Podoplanin is a transmembrane, oncofoetal, glycoprotein found on lymphatic endothelium, mesothelium and foetal testis.
  • Staining positive with D2-40 indicates podoplanin, which indicates lymphatic tissue.
27
Q

What is Foetal Hydrops, and what are some common causes?

A

What it is:

  • Accumulation of fluid during intrauterine growth.
  • Fluid distribution can be generalised (hydrops fetalis - lethal), localised (isolated pleural / peritoneal effusions), or nuchal (cystic hygroma).

Causes - immune:

  • Haemolytic disease of newborn / Rh incompatibility.

Causes - non-immune:

  • Cardiovascular defects.
  • Chromosomal abnormalities (e.g. Turners, T21, T18).
  • Fetal anaemia (e.g. homozygous alpha thal).
  • Tranplacental infections (e.g. Parvovirus).
  • Twin-twin transfusion syndrome in monozygous twins.
28
Q

Which region of the intestine is usually involved in necrotising enterocolitis

A

Ileocaecal region (vascular “watershed”)

Basic Pathology (14 decks)

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