Definitions in Congenital Anomalies ✅ Flashcards

1
Q

What % of live births are affected by congenital abnormalities?

A

3-6%

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2
Q

What % of neonatal deaths in the UK are caused by congenital abnormalities?

A

20-25%

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3
Q

What is congenital malformation defined as?

A

A defect in the structure of an organ or a part of an organ due to abnormal development

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4
Q

What proportion congenital malformations have a congenital cause?

A

1/4

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5
Q

What is the case with the cause of most congenital malformations?

A

They have multifactorial or unknown causes

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6
Q

What % of congenital defects are caused by teratogens?

A

5-10%

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7
Q

What is a teratogen?

A

Any chemical, maternal physical condition, or deficiency that can alter fetal development or function

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8
Q

Give 4 examples of teratogens

A
  • Maternal alcohol or drug misuse
  • Maternal anti-convulsant use
  • Congenital infection
  • Maternal disorders, e.g type 1 diabetes mellitus
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9
Q

What is disruption defined as?

A

An anomaly which occurs when a fetal structure starts growing normally, but growth is disrupted by something which disrupts the process

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10
Q

What can cause disruptions leading to rterminal limb defects as a result of disrupted blood supply?

A
  • Amniotic bands

- Chorionic villus sampling

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11
Q

What causes amniotic bands?

A

Thought to be formed when amnion ruptures early and fetal limb is forced into chorionic cavity, resulting in vascular compression followed by necrosis

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12
Q

What do amniotic bands result in?

A

Absent digits or limbs

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13
Q

When can chorionic villus sampling result in a similar anomaly to amniotic bands?

A

If carried,, out too early in pregnancy (around 8-10 weeks)

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14
Q

How can chorionic villus sampling lead to disruptions leading to terminal limb defects?

A

Due to vascular disruption,potentially haemorrhage from injured chorionic villi

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15
Q

What is deformation defined as?

A

An external force that results in an alteration of shape of a previously normally formed structure

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16
Q

When do deformation abnormalities normally occur?

A

In a second half of pregnancy when the fetus is large in comparison to the uterine size

17
Q

What is dysplasia defined as?

A

Abnormal organisation of cells into tissues?

18
Q

When do congenital dysplasias normally develop?

A

During embryogenesis

19
Q

Give 3 examples of congenital dysplasias?

A
  • Haemangiomas
  • Osteogenesis imperfecta
  • Achondroplasia
20
Q

What is sequence defined as?

A

Groups of related abnormalities that stem from a single initial major anomaly that alters the development of other surroundings or related tissues or structures

21
Q

Give 2 example of congenital sequence abnormalities

A
  • Pierre Robin sequence

- Potter’s sequence

22
Q

What happens in Pierre-Robin sequence?

A

A small jaw (micrognathia) leads to the tongue being displaced posteriorly, which results in a cleft palate

23
Q

What happens in Potter’s sequence?

A

A single anomaly (renal abnormality) causes decreased fetal urine output and associated oligohydraminos. This leads to pulmonary hypoplasia and typically flattened facial features

24
Q

What other congenital abnormality is Potter’s sequence an example of?

A

Deformation

25
Q

Why is Potter’s sequence an example of deformation?

A

An external force (oligohydraminos) results in a flattened face from being compressed against the uterine wall

26
Q

What is syndrome defined as?

A

Group of anomalies that can be traced to a common origin

27
Q

What is ‘associations’ defined as?

A

Patterns of anomalies that occur together more frequently than expected by chance, but are not identified as syndromes

28
Q

Give an example of a congenital association?

A

VACTERL

29
Q

What is VACTERL associated with?

A
  • Vertebral abnormalities
  • Anal atresia
  • Cardiac anomalies
  • Tracheo-oesophageal fistula
  • Renal anomalies
  • Limb anomalies