Congenital defects and human embryology Flashcards

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?

A

Placenta

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
Q

What does endoderm become?

A

Lungs, gut

26
Q

What is sirenomelia

A

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
Q

What is situs inversus

A

Complete reversal of body organs