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YEAR 3 REVISION > Congenital Abnormalities > Flashcards

Congenital Abnormalities Flashcards

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)
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2
Q

How is Down’s Syndrome diagnosed?

A

Antenatal screening (CVS or Amniocentesis)

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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
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4
Q

What is Edward’s Syndrome?

A
  • Extra chromosome 18

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

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5
Q

How is Edward’s syndrome diagnosed?

A

Antenatal screening (CVS or Amniocentesis)

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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

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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

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8
Q

How is Spina Bifida diagnosed?

A

Anomaly scan at 20/40

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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
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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

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11
Q

How is Anencephaly diagnosed?

A

Anomaly scan at 20/40, Amniocentesis or MRI scans

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12
Q

What is the treatment for Anencephaly?

A

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

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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

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14
Q

How is Hydrocephaly diagnosed?

A

Brain scans

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15
Q

What is the treatment for Hydrocephaly?

A

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

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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
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17
Q

How is Microcephaly diagnosed?

A

Anomaly scan at 20/40

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18
Q

What is the treatment for Microcephaly?

A

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

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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

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20
Q

How is a cleft lip/palate diagnosed?

A

Anomaly scan at 20/40 or during the NIPE

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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
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22
Q

What is Gastroschisis?

A

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

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23
Q

How is Gastroschisis diagnosed?

A

USS

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24
Q

What is the treatment for Gastroschisis?

A

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

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25
Q

What is Exomphalos?

A

An abdominal wall defect in which some organs (e.g. liver and intestines) grow inside the umbilical cord

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26
Q

How is Exomphalus diagnosed?

A

USS

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27
Q

What is the treatment for Exomphalus?

A

Surgery

28
Q

What is a Diaphragmatic Hernia?

A

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
Q

How is a Diaphragmatic Hernia diagnosed?

A

USS or chest x-ray due to baby struggling to breathe efficiently

30
Q

What is the treatment for a Diaphragmatic Hernia?

A

Surgery

31
Q

What is Oesophageal Atresia?

A
  • A condition where the upper part of the oesophagus is not connected to the lower part
  • Associated complication = Tracheo-oesophageal fistula
32
Q

What is a Tracheo-oesophageal Fistula?

A

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
Q

How is Oesophageal Atresia diagnosed?

A

Indicated by polyhydramnios or baby struggling to breathe/swallow

34
Q

What is the treatment for Oesophageal Atresia?

A

Surgery

35
Q

What is Duodenal Atresia?

A

A condition in which the duodenum is closed off

36
Q

How is Duodenal Atresia diagnosed?

A

USS or babies who are sick after feeding with green vomit

37
Q

What is the treatment for Duodenal Atresia?

A

Surgery

38
Q

What is a Patent Ductus Arteriosus?

A

A hole in the heart caused by the ductus arteriosus not closing at birth, causing difficulty breathing and possible heart failure

39
Q

How is a Patent Ductus Arteriosus diagnosed?

A

A heart murmur will be heard and then it is confirmed by an ECG

40
Q

What is the treatment for a Patent Ductus Arteriosus?

A

Surgery

41
Q

What is a Ventricular Septal Defect?

A

A form of congenital heart disease where there is a hole between the 2 ventricles

42
Q

How is a Ventricular Septal Defect diagnosed?

A

USS or indicated by baby struggling to breathe, having problems feeding or frequent chest infections

43
Q

What is the treatment for a Ventricular Septal Defect?

A

Can close on its own but may need surgery and medication to get rid of excess fluid

44
Q

What is Transposition of the Great Arteries?

A

A condition where the pulmonary artery and the aorta are in each other’s place

45
Q

How is Transposition of the Great Arteries diagnosed?

A

USS or indicated if baby becomes increasingly blue, breathless and difficult to feed

46
Q

What is the treatment for Transposition of the Great Arteries?

A
  • Medication (prostaglandin) to keep foetal circulation open
  • Balloon septostomy (making the hole between the atria bigger)
  • Surgery
47
Q

What is Tetralogy of Fallot?

A

4 conditions combined:

  1. VSD
  2. Over-riding aorta
  3. Pulmonary stenosis
  4. Right ventricular hypertrophy
48
Q

What is an over-riding aorta?

A

The entrance to the aorta lies over the VSD, allowing the right ventricle to pump deoxygenated blood into the left ventricle

49
Q

What is pulmonary stenosis?

A

Narrowing of the pulmonary valve

50
Q

How is Tetralogy of Fallot diagnosed?

A

USS or indicated by a heart murmur and cyanosis

51
Q

What is the treatment for Tetralogy of Fallot?

A

Surgery

52
Q

What is an Imperforate Anus?

A

The anus does not develop so the baby cannot pass stools

53
Q

How is an Imperforate Anus diagnosed?

A

During the NIPE and confirmed by an x-ray

54
Q

What is the treatment for an Imperforate Anus?

A

Surgery (and possibly a temporary colostomy)

55
Q

What is Hypospadias?

A

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
Q

How is Hypospadias diagnosed?

A

During the NIPE

57
Q

What is the treatment for Hypospadias?

A

Surgery

important the baby is not circumcised before this surgery as the foreskin is used and then a circumcision is performed

58
Q

What does NIPT stand for?

A

Non-Invasive Prenatal Testing

59
Q

What are the two types of chromosome abnormalities?

A
  1. Numerical abnormalities

2. Structural abnormalities

60
Q

What is a numerical abnormality?

A
  • Monosomy (missing a chromosome from the pair)

- Trisomy (has more than 2 chromosomes instead of a pair)

61
Q

What is Turner’s syndrome?

A
  • 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
Q

What is the treatment for Turner’s syndrome?

A
  • Fertility treatment

- Growth hormones/ hormone treatment

63
Q

What is congenital heart disease?

A
  • Covers range of diseases (e.g. VSD, PDA)
64
Q

What is hip dysplasia?

A
  • Malformation of ball and socket joint of hip
  • Common in breech babies
  • Refer to specialist physiotherapist
65
Q

What are cataracts?

A
  • Clouding of lens in eye

- Refer to ophthalmologist

66
Q

What is cryptorchidism?

A
  • Undescended testes
  • Usually resolves itself
  • If not, surgery required
67
Q

What is NIPT?

A

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)

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