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
- first trimester
(10-14 weeks)
- 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
- 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
- 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:
- T21 - Down’s syndrome
- T18 - Edwards’ syndrome
- T13 - Patau’s syndrome
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7
Q
What is involved in the combined screening test in the first trimester?
A
- Papp-A
- HcG
- Nuchal translucency
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8
Q
What is involved in the quad test during first trimester screening?
A
- AFP
- HCG
- uE3
- 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
- small chin
- slanted eyes
- flat nasal bridge
- single palmer crease
- large tongue
- shorter stature
- 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
- small stature
- microcephaly
- cleft lip
- low set ears and small jaw
- 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
- severe mental disability
- small stature
- seizures
- 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
- foregut goes from oesophagus to upper part of duodenum
- midgut runs to 2/3 along the transverse colon
- 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
- associated with higher rates of genetic defects
- involves the umbilical cord
- 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:
- spina bifida
- cleft
- 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
- 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
- leg weakness
- bladder or bowel incontinence
- 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
