Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

YEAR 3 REVISION > Congenital Abnormalities > Flashcards

Congenital Abnormalities Flashcards

(67 cards)

Start Studying
1
Q

What is Down’s Syndrome?

A
  • Extra chromosome 21
  • Causes learning disability, distinct physical characteristics and increased risk of other health conditions (e.g. heart condition, hearing and vision problems)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How is Down’s Syndrome diagnosed?

A

Antenatal screening (CVS or Amniocentesis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the treatment for Down’s Syndrome?

A
  • Cannot be cured
  • Therapy to help with speech, motor skills etc
  • Usually need care for their whole life
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is Edward’s Syndrome?

A
  • Extra chromosome 18

- Causes defects in the brain, heart, craniofacial structures, kidneys and stomach

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How is Edward’s syndrome diagnosed?

A

Antenatal screening (CVS or Amniocentesis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the treatment for Edward’s Syndrome?

A
  • Average life expectancy is <2 months

- Can undergo surgery and/or therapies to ease their symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is Spina Bifida?

A
  • A gap in the spine due to underdevelopment in utero

- Causes weakness/paralysis of legs, bowel and urinary incontinence and loss of skin sensation in legs and buttocks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How is Spina Bifida diagnosed?

A

Anomaly scan at 20/40

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the treatment for Spina Bifida?

A
  • Surgery soon after birth to close the spine
  • Treat hydrocephaly
  • Assistive devices and mobility equipment
  • Treatment for bowel and urinary problems
  • Most people can lead a normal life
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is Anencephaly?

A
  • Brain and bones of skull don’t develop properly

- Specific underdevelopment of the cerebellum which controls thinking, movement and senses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How is Anencephaly diagnosed?

A

Anomaly scan at 20/40, Amniocentesis or MRI scans

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the treatment for Anencephaly?

A

There is no treatment - the condition is not compatible with life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is Hydrocephaly?

A
  • Fluid on the brain, causing pressure and damage

- Can be caused by spina bifida or from an infection in pregnancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How is Hydrocephaly diagnosed?

A

Brain scans

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the treatment for Hydrocephaly?

A

A shunt is surgically implanted in the brain to drain excess fluid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is Microcephaly?

A
  • Head circumference smaller then normal due to underdevelopment of brain
  • Causes delayed motor and speech functions, mental retardation, seizures, balance and coordination problems etc
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How is Microcephaly diagnosed?

A

Anomaly scan at 20/40

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is the treatment for Microcephaly?

A

Only treatment available is to decrease the impact of associated deformities and neurological disabilities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is a cleft lip/palate?

A
  • A gap/split in the upper lip and/or roof of the mouth

- Causes difficulty feeding and hearing, speech and dental problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How is a cleft lip/palate diagnosed?

A

Anomaly scan at 20/40 or during the NIPE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the treatment for a cleft lip/palate?

A
  • Surgery at 3-6 months (cleft lip)/ 6-12 months (cleft palate)
  • Feeding support
  • Speech and language therapy
  • Monitor hearing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is Gastroschisis?

A

An abdominal wall defect in which the intestines develop outside of the body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How is Gastroschisis diagnosed?

A

USS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the treatment for Gastroschisis?

A

Intestines are wrapped in cling film and then surgery when possible to replace them

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What is Exomphalos?
An abdominal wall defect in which some organs (e.g. liver and intestines) grow inside the umbilical cord
26
How is Exomphalus diagnosed?
USS
27
What is the treatment for Exomphalus?
Surgery
28
What is a Diaphragmatic Hernia?
A condition involving a hole in the diaphragm, sometimes causing part of the intestines and other organs to move into the chest and squash the lungs, inhibiting their development
29
How is a Diaphragmatic Hernia diagnosed?
USS or chest x-ray due to baby struggling to breathe efficiently
30
What is the treatment for a Diaphragmatic Hernia?
Surgery
31
What is Oesophageal Atresia?
- A condition where the upper part of the oesophagus is not connected to the lower part - Associated complication = Tracheo-oesophageal fistula
32
What is a Tracheo-oesophageal Fistula?
The lower part of the oesophagus is attached to the trachea, meaning air could pass into the stomach and stomach acid could pass into the lungs
33
How is Oesophageal Atresia diagnosed?
Indicated by polyhydramnios or baby struggling to breathe/swallow
34
What is the treatment for Oesophageal Atresia?
Surgery
35
What is Duodenal Atresia?
A condition in which the duodenum is closed off
36
How is Duodenal Atresia diagnosed?
USS or babies who are sick after feeding with green vomit
37
What is the treatment for Duodenal Atresia?
Surgery
38
What is a Patent Ductus Arteriosus?
A hole in the heart caused by the ductus arteriosus not closing at birth, causing difficulty breathing and possible heart failure
39
How is a Patent Ductus Arteriosus diagnosed?
A heart murmur will be heard and then it is confirmed by an ECG
40
What is the treatment for a Patent Ductus Arteriosus?
Surgery
41
What is a Ventricular Septal Defect?
A form of congenital heart disease where there is a hole between the 2 ventricles
42
How is a Ventricular Septal Defect diagnosed?
USS or indicated by baby struggling to breathe, having problems feeding or frequent chest infections
43
What is the treatment for a Ventricular Septal Defect?
Can close on its own but may need surgery and medication to get rid of excess fluid
44
What is Transposition of the Great Arteries?
A condition where the pulmonary artery and the aorta are in each other's place
45
How is Transposition of the Great Arteries diagnosed?
USS or indicated if baby becomes increasingly blue, breathless and difficult to feed
46
What is the treatment for Transposition of the Great Arteries?
- Medication (prostaglandin) to keep foetal circulation open - Balloon septostomy (making the hole between the atria bigger) - Surgery
47
What is Tetralogy of Fallot?
4 conditions combined: 1. VSD 2. Over-riding aorta 3. Pulmonary stenosis 4. Right ventricular hypertrophy
48
What is an over-riding aorta?
The entrance to the aorta lies over the VSD, allowing the right ventricle to pump deoxygenated blood into the left ventricle
49
What is pulmonary stenosis?
Narrowing of the pulmonary valve
50
How is Tetralogy of Fallot diagnosed?
USS or indicated by a heart murmur and cyanosis
51
What is the treatment for Tetralogy of Fallot?
Surgery
52
What is an Imperforate Anus?
The anus does not develop so the baby cannot pass stools
53
How is an Imperforate Anus diagnosed?
During the NIPE and confirmed by an x-ray
54
What is the treatment for an Imperforate Anus?
Surgery (and possibly a temporary colostomy)
55
What is Hypospadias?
A condition affecting the penis in 3 ways: 1. Urethra not at tip of penis 2. Foreskin gathered at back of penis 3. Penis bent during an erection
56
How is Hypospadias diagnosed?
During the NIPE
57
What is the treatment for Hypospadias?
Surgery | important the baby is not circumcised before this surgery as the foreskin is used and then a circumcision is performed
58
What does NIPT stand for?
Non-Invasive Prenatal Testing
59
What are the two types of chromosome abnormalities?
1. Numerical abnormalities | 2. Structural abnormalities
60
What is a numerical abnormality?
- Monosomy (missing a chromosome from the pair) | - Trisomy (has more than 2 chromosomes instead of a pair)
61
What is Turner's syndrome?
- Second X chromosome missing (affects girls only) - Features include short stature, wide neck, puffy hands and feet, ovaries non-functioning, weak bones and problems with heart, kidneys, thyroid and hearing
62
What is the treatment for Turner's syndrome?
- Fertility treatment | - Growth hormones/ hormone treatment
63
What is congenital heart disease?
- Covers range of diseases (e.g. VSD, PDA)
64
What is hip dysplasia?
- Malformation of ball and socket joint of hip - Common in breech babies - Refer to specialist physiotherapist
65
What are cataracts?
- Clouding of lens in eye | - Refer to ophthalmologist
66
What is cryptorchidism?
- Undescended testes - Usually resolves itself - If not, surgery required
67
What is NIPT?
Harmony (safe) test: - Only on NHS if combined screening comes back HR - Testing cell-free foetal DNA - Tests for Down's, Edward's & Patau's

YEAR 3 REVISION (49 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions