Congenital defects and human embryology Flashcards

(27 cards)

1
Q

What percentage of life births have some congenital defect?

A

20

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2
Q

Name some causes of congenital defects?

A
  • No known cause
  • Genetic
  • Drug use
  • Environmental
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3
Q

How does the drug accutane cause congenital defects?

A

Contains vitamin A which is fat soluble so can accumulate in the body. Toxic especially to developing foetuses

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4
Q

When do most major congenital defects occur?

A

First four weeks

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5
Q

How would you classify a major/ minor congenital defect?

A

Major: abnormality requiring medical/ surgical intervention
Minor: abnormality requiring no severe intervention and causing minor handicap

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6
Q

What is anencephaly

A

Without a skull
Skull bones don’t form so cerebral cortices exposed
Usually incompatible with life

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7
Q

What is hypospadias?

A

Penis not fused

Classified as major defect but not life threatening

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8
Q

Which is cryptorchidism?

A

Testes not in scrotum at birth

Minor defect

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9
Q

What is holoprosencephaly?

A

Abnormal forming/ incorrect size midline structures

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10
Q

What is congenital diaphragmatic hernia?

A

Gastrointestinal system enters thorax, usually on left side of diaphragm.

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11
Q

What is gastroschisis?

A

Body wall not closed, so intestine external.

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12
Q

Where does fertilisation occur

A

Ampulla of uterine tube

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13
Q

What happens in week 1 of development

A

Going through oviducts
1 cell–> morula (ball of cells) in first 4.5-5 days
Becomes a blastocyst when in uterus, before implantation

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14
Q

What day does implantation usually occur?

A

Day 6

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15
Q

What happens in week 2?

A

Differentiation of trophoblast, embryoblas and formation of 2 cavities

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16
Q

What does the trophoblast differentiate into in week 2?

A

Cytotrophoblast and synctioblast

17
Q

What does synctioblast eventually form?

18
Q

What does the embryoblast differentiate into in week 2?

A

Hypoblast ventrally and epiblast dorsally

19
Q

What 2 cavities are formed in week 2?

A

Amnioclast cavity dorsal to epiblast,

Yolk sac cavity ventral of hypoblast

20
Q

What is hydatidiform mole

A

No foetus, only placenta forms

Usually occurs when no maternal nucleus- sperm has fertilised egg without nucleus

21
Q

What are the karyotypes of partial hydatiform mole?

A

69XXX, 69XXY and 69XYY

22
Q

What happens in week 3 of development?

A

2 layers of embryoblast are transformed into ectodern, mesoderm and endoderm.
Body axes are established

23
Q

What does ectoderm become?

A

Skin and nervous system

24
Q

What does mesoderm become?

A

Muscles, bone, connective tissue

25
What does endoderm become?
Lungs, gut
26
What is sirenomelia
Mermaid syndrome Not enough mesoderm is produced at lower end of body bc epiblast cells stop invagination too soon leading to no separation between legs
27
What is situs inversus
Complete reversal of body organs