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BS - Reproductive System > Embryology in USS > Flashcards

Embryology in USS Flashcards

1
Q

What is the Foetal Anomaly Screening Programme? (FASP)

A

It sets guidelines and standards for foetal screening and anomaly detection

This ensures high standards of screening and national consistency

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2
Q

When are the pregnancy points of screening?

A
  1. first trimester

(10-14 weeks)

  1. second trimester

(18 - 20/26 weeks)

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3
Q

When is screening undertaken in the first trimester?

What is this?

A

At 10 - 14 weeks

This is known as a dating USS (ultrasound scan)

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4
Q

What is the purpose of a Dating USS?

A
  1. estimating current gestational age

2. calculating the due date (40 weeks)

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5
Q

What tests are also undertaken on women who opt for screening?

A
  1. maternal blood sample

2. nuchal translucency

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6
Q

What is the abnormalities are tested for at 10-14 weeks?

A

Testing for:

  1. T21 - Down’s syndrome
  2. T18 - Edwards’ syndrome
  3. T13 - Patau’s syndrome
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7
Q

What is involved in the combined screening test in the first trimester?

A
  1. Papp-A
  2. HcG
  3. Nuchal translucency
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8
Q

What is involved in the quad test during first trimester screening?

A
  1. AFP
  2. HCG
  3. uE3
  4. Inhibin A
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9
Q

What is measured in nuchal translucency (NT)?

What is normal?

A

The thickness of the skin at the back of the neck

Normal is < 3.5 mm

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10
Q

What may an abnormal NT scan be due to?

A

It may be excessively oedematous

This is due to blockage of fluid in the developing foetal lymphatic system

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11
Q

Why is nuchal translucency only significant if measured between 10 and 14 weeks of gestation?

A

The foetal lymphatic system is developing and the peripheral resistance of the placenta is high

After 14 weeks, the lymphatic system is developed and will drain away excess fluid

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12
Q

What is the problem with using a nuchal translucency scan after 14 weeks?

A

Any abnormalities causing fluid accumulation may seem to correct

They can go undetected by nuchal screening

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13
Q

What causes Down’s syndrome?

A

Non-disjunction (92%) or translocation (4%)

It affects 1 in 800 births

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14
Q

What is the ethical dilemma involved in deciding whether to terminate a trisomy 21 pregnancy?

A

The severity of the physical and intellectual disability is difficult to predict

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15
Q

How does the intellectual disability in trisomy 21 usually present?

A

Mild to severe

Social skills are usually good

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16
Q

What % of Down’s syndrome babies are affected by congenital heart disease and AVSD/VSD?

A

congenital heart disease - 40%

AVSD/VSD - 80%

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17
Q

What are the typical physical characteristics of a baby with Down’s syndrome?

A
  1. small chin
  2. slanted eyes
  3. flat nasal bridge
  4. single palmer crease
  5. large tongue
  6. shorter stature
  7. sleep apnoea
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18
Q

What % of Down’s syndrome children have visual and hearing problems?

A

80% have visual problems - including cataracts

90% have hearing problems - otitis media

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19
Q

How independent are children with Down’s syndrome?

A

They can live semi-independent lives and attend mainstream schools

20
Q

What is trisomy 18?

What causes it?

A

Edwards syndrome

It is caused by non-disjunction and affects 1 in 3-5000 births

21
Q

What is the median lifespan for someone with Edwards syndrome?

A

5 - 15 days

60% will die in utero

22
Q

What are the physical abnormalities of someone with Edwards syndrome?

A
  1. small stature
  2. microcephaly
  3. cleft lip
  4. low set ears and small jaw
  5. clenched hand/fist
23
Q

What is trisomy 13 and what causes it?

A

Patau syndrome

It is caused by non-disjunction or translocation

it affects 1 in 5-10,000 births

24
Q

What is the median lifespan for someone with Patau syndrome?

A

Median lifespan is 5 - 15 days

60% will die in utero

25
Q

What are the physical abnormalities of someone with Patau syndrome?

A
  1. severe mental disability
  2. small stature
  3. seizures
  4. facial clefts
26
Q

How is the foetal head formed?

A

From the neural crest and mesoderm

Followed by intramembranous ossification

27
Q

What is anencephaly and what is it caused by?

A

Failure of fetal skull formation leads to the exposure of brain contents to pressure effects

28
Q

What is the mortality and detection rate of anencephaly?

A

100% mortality rate

98% detection rate in first trimester

29
Q

When does the gastrointestinal tract develop?

A

It derives from endoderm during week 3

30
Q

What are the 3 parts of the gastrointestinal tract?

A
  1. foregut goes from oesophagus to upper part of duodenum
  2. midgut runs to 2/3 along the transverse colon
  3. hindgut runs to the rectum
31
Q

What happens to the midgut during the 6th week of development?

A

It herniates through the umbilical cord

It undergoes 270o rotation anticlockwise

This is completed by the 12th week

32
Q

What characterises an abnormal herniation?

A

If herniation remains after 12 weeks

33
Q

What is gastroschisis and how many births does it affect?

A

Herniation of the intestinal contents

This is most commonly the bowel, but may include liver and stomach

Affects 4 in 1000 births

34
Q

How is gastroschisis corrected?

A

Surgery after birth

35
Q

How many births are affected by omphalocele?

A

1 in 4000

36
Q

How does omphalocele differ to gastroschisis?

A
  1. associated with higher rates of genetic defects
  2. involves the umbilical cord
  3. poorer outcome
37
Q

What types of screening happen in the second trimester?

A

Anatomy/anomaly USS

This occurs between the 18th and the 20th-26th week

38
Q

What type of USS is included in second trimester screening?

What specific conditions are tested for?

A

Detailed examination of the heart and brain

Looking for:

  1. spina bifida
  2. cleft
  3. cardiac defects
39
Q

What is significant about the developmental period of the nervous system?

A

it is one of the earliest systems to develop (week 3) and last to complete

The long period of development means it is susceptible to insult

40
Q

What is the incidence of spina bifida?

A

1 in 500 to 1 in 2000

41
Q

What causes spina bifida?

A

A failure of the vertebral arches to close

This is most commonly lumbar (75%) and sacral (15%)

42
Q

What can prevent spina bifida?

A
  1. folic acid supplementation
43
Q

What drug is known to increase risk of spina bifida?

A

Sodium valproate (1%)

This is a drug used to treat epilepsy

44
Q

What are the physical impairments that are present due to spina bifida?

A

The level of physical impairment depends upon the location of defect

  1. leg weakness
  2. bladder or bowel incontinence
  3. sexual dysfunction
45
Q

What is the risk associated with spina bifida?

A

Risk of developmental delay

46
Q

What causes a cleft lip?

What is the incidence?

A

Failure of fusion by 12 weeks

Incidence is 1 in 1000

47
Q

What are midline clefts associated with?

A

Higher rates of genetic conditions

BS - Reproductive System (12 decks)

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