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Reproduction and the growing child > Congenital defects and their scientific basis > Flashcards

Congenital defects and their scientific basis Flashcards

1
Q

Congenital =

A

Present at birth

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2
Q

What % of liveborn infants are affected by congenital defects?

A

3%

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3
Q

Malformation =

A

Primary disturbance in embryogenesis

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4
Q

Disruption =

A

Secondary disturbance due to early influence of external factors

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5
Q

Deformation =

A

Late changes in a previously normal structure. Due to prolonged mechanical distress.

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6
Q

Causes of neonatal death:

A
  • Preterm birth complications
  • Intrapartum complications (e.g. asphyxia)
  • Sepsis
  • Congenital abnormalities
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7
Q

Congenital defects occur most commonly in

A

Low/middle income countries

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8
Q

What does CD being common in low/middle income countries mean?

A

May be preventable (e.g. food shortages, endemics)

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9
Q

Single gene defects and chromosomal defects are examples of what kind of abnormalities?

A

Primary/malformation

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10
Q

Teratogens cause what kind of abnormalities?

A

Secondary/disruptions

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11
Q

Ex of teratogens:

A
  • Congenital infections
  • Drugs and enviornmental pollutants
  • Maternal metabolic disease
  • Radiaition exposure
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12
Q

TORCH infections

A 
Toxoplasmosis
Rubella
Cytomegalovirus
Herpes
Syphillis
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13
Q

Maternal metabolic diseases in pregnancy:

A

Diabetes, thyroid problems

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14
Q

Malformations at 2-4 weeks may cause

A

Polytrophic field defects

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15
Q

What is a polytrophic field defect?

A

Occurs early in trilaminar disc, can lead to scattered pattern of abnormalities

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16
Q

Ex of polytrophic field defects:

A

Di George

VACTERL (3+ of these)

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17
Q

DiGeorge =

A

Affects heart and thymus

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18
Q

VACTERL

A 
Vertebral abnormalities
Anal atresia
Cardiac abnormalities
Trachea-esophageal distula
Renal anomalies
Limb anomalies
19
Q

Malformations at weeks 4-8

A

Monotrophic field defects

20
Q

Ex of monotrophic field defects =

A

Cleft lip/palate

21
Q

Ex of monotrophic field defect >9 weeks

A

Organ: spina bifida, cardiac

22
Q

Ex of disruption:

A

Amniotic bands

Poland anomaly

23
Q

Poland anomaly can be caused by …

A

Maternal cocaine use

24
Q

Poland anomaly =

A

Interruption of subclavian artery vascular supply. Development of pectoral muscles effected.

25
Q

Ex of deformation

A

Clubbing of feet

Developmental displacement of hip

26
Q

When is developmental displacement of the hip seen?

A

breach position

27
Q

Name 2 common sequences

A

Potter

Pierre-Robin

28
Q

Potter’s sequence is triggered by

A

Renal agenesis which causes oligohydramnosis

29
Q

Potter’s sequence causes:

A

Pulmonary hypoplasia
Squashed baby
Limb abnormalities, clubbed feet
Growth restriction

30
Q

Oligohydranosis =

A

Reduced amniotic fluid

31
Q

Pierre-Robin sequence is characterised by:

A

Abnormally small mandible
Glossoptosis, backwards displacement of tongue
U-shaped cleft palate

32
Q

Micrognathia

A

Small mandible

33
Q

A set of signs and symptoms that are correlated with each other =

A

Syndromes

34
Q

Syndromes can be due to:

A

genetics (single gene, chromosomal)

teratogens

35
Q

What is seen in congenital rubella?

A
  • Jaundice
  • Hepato-splenomegaly
  • Calcification in brain and behind eyes
36
Q

What is seen in foetal alcohol syndrome?

A
  • IUGR
  • Learning difficulties
  • Dysmorphic features
  • Behaviour problems
37
Q

2 ways to reduce incidence =

A

Prevention

Screening

38
Q

Ex of prevention methods:

A

Oral folate
Iodine and folic acid fortification
Rubella immunisation
Avoid known risk factors: radiation, alcohol, meds, foods

39
Q

Pre-conception screening =

A

Genetic counselling

40
Q

Antenatal screening in T1

A

Triple test

Nuchal fold

41
Q

Triple test looks for

A

Downs syndrome
Edwards syndrome
Pataus syndrome

42
Q

Nuchal fold test can look for

A

Downs syndrome

DiGeorge

43
Q

T2 scans:

A

Anomaly scans

44
Q

Screening after birth:

A

Newborn screening examination

Reproduction and the growing child (15 decks)

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