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Human Development > 8 - Congenital Defects > Flashcards

8 - Congenital Defects Flashcards

1
Q

What does congenital mean?

A

Present at birth

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2
Q

How many percent of live births have some sort of defect?

A

20%

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3
Q

How many percent of birth defects are due to unknown causes/multi-factorial?

A

70%

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4
Q

How many percent of birth defects are due to genetics?

A

15% e.g downs syndrome

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5
Q

How many percent of birth defects are due to drugs?

A

10% e.g accutane and thalidomide

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6
Q

How many percent of birth defects are due to environmental factors?

A

10% e.g infectious and chemical agents - rubella - CMV - zika - alcohol

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7
Q

What is a major congenital defect and how many percent of births are major?

A

Anomaly that requires surgical treatment
Causes significant handicap
6%

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8
Q

What is a minor congenital defect and how many percent of births are minor?

A

Anomaly that doesn’t require intervention
Causes minimal handicap
15%

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9
Q

What is cryptochidism and what is its incidence?

A 
Undecended testis
7.6:1000 births
1-4% of live male births
most correct within 3 months
1% still undescended at 1 year
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10
Q

Name 5 major congenital defects?

A
  • Anecephaly
  • Cleft lip and cleft palate
  • Spina bifida
  • Hyposapadias
  • Phocomelia
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11
Q

Name 5 minor congenital defects?

A 
Micropenis
Cryptorchidism
Auricular ear tag or pit
Rocker bottom feet
Overlapping digits
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12
Q

Anecephaly

A

failure of anterior neuropore to close resulting in malformed head and brain

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13
Q

Spina bifida

A

failure of posterior neuropore to close leading to the spine and its contents herniating out the back of the child

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14
Q

Hypospadias

A

defect in the formation of the male urethra where it opens out an unusual place – classified as a major defect but is rarely life threatening

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15
Q

Cleft lip

A

failure of maxillary and medial nasal prominences to fuse

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16
Q

Cleft palate

A

failure of palatine shelves to fuse

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17
Q

Holoprosencepahly

A

loss of midline structures – severity can vary

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18
Q

Omphalocele

A

where the abdominal contents do not correctly return to the body from the umbilical cord

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19
Q

Gastrochisis

A

defect in the anterior abdominal wall through which the abdominal contents herniate

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20
Q

Phocomelia

A

malformation of the limbs – thalidomide

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21
Q

Talipes equimovarus

A

club foot where foot is rotated internally at the ankle

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22
Q

Cryptorchidism

A

undescended testicles – minor – 7.6:1000 – 1-4% of births – most spontaneously correct within 3 months. Still undescended in 1% at 1 year of age – 20X increased risk of developing malignancy

23
Q

Syndactyly

A

digits fused together

24
Q

Polydactyly

A

extra digits

25
Q

Ankyloglossia

A

tongue tie – unusually short and thickened frenulum

26
Q

Congenital diaphragmatic hernia

A

some of the gut herniates into the thorax through the oesophageal hiatus preventing correct development of the lungs and leaving the baby cyanotic

27
Q

Hydatidiform mole

A

cell diploid but all derived from the father due to fertilisation of an empty egg

28
Q

Sirenomelia

A

epiblast cells stop invaginating too early meaning insufficient mesoderm is produced and the lower body parts are fused together

29
Q

Situs invertus

A

left and right body axes are the opposite way around

30
Q

Atrial septal defect

A

blood can flow between two atria

31
Q

Ventricular septal defect

A

blood can flow between two ventricles

32
Q

AV canal

A

lack of atrioventricular septum

33
Q

Patent ductus arteriosus

A

failure of ductus arteriosus to close

34
Q

Coarctation of aorta

A

aortic narrowing around where the ductus arteriosus inserts

35
Q

Transposition of the great vessels

A

incorrect connection of outflow tracts to the chambers

36
Q

Truncus arteriosus

A

failure of truncus arteriosus to properly divide into the aorta and pulmonary trunk

37
Q

Tetralogy of Fallot

A

overriding aorta that can also break through to the wrong side of the heart

38
Q

Pelvic kidney

A

kidneys do not migrate upwards to the posterior abdominal wall

39
Q

Horseshoe kidney

A

kidneys fuse at the bottom to form a horseshoe shape

40
Q

Vitelline duct abnormality

A

Meckel’s diverticulum - small pocket of remaining vitelline duct outpocketing from the ileum

41
Q

Oesophgeal atresia

A

chronic narrowing of the oesophagus

42
Q

Tracheo-oesophageal fistulae

A

abnormal connection between the trachea and oesophagus

43
Q

Pyloric stenosis

A

narrowing of the pylorus leading from the stomach to duodenum

44
Q

Duodenal atresia

A

closure of the lumen of the duodenum

45
Q

Jejunal atresia

A

closure of the lumen of the jejunum

46
Q

Malrotation

A

improper rotation of the midgut that can lead to volvulus (strangulation) and obstruction
• Imperforate anus – malformation of the rectum

47
Q

Imperforate anus

A

malformation of the rectum

48
Q

Hirschprung’s disease

A

lack of ganglion cells to the intestines meaning they cannot function correctly

49
Q

What occurs during week one after fertilisation?

A
  • Fertilisation in ampulla region of uterine tube within 24 hours of ovulation
  • 3 days after fertilization – ball of cells – morula
50
Q

What occurs in week 2 after fertilisation?

A

Trophoblast, embryoblast differentiates into two layers

2 cavities are formed

51
Q

What are the names of the 2 layers the trophoblast differentiates into?

A

Syncytioblast and cytotrophoblast

52
Q

What are the names of the 2 layers the embryoblast differentiates into?

A

Epiblast dorsally and hypoblast ventrally

53
Q

What are the names of the two cavities formed?

A

Amniotic cavity dorsal to epiblast and yolk sac cavity ventral to hypoblast

54
Q

What occurs during week three after fertilisation?

A

o Two layers transformed by gastrulation into three germ layers
o Ectoderm – mesoderm – endoderm
o Establishes body axes – cranial/caudal – dorsal/ventral – left/right

Human Development (19 decks)

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