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Block 11 > Congenital Abnormalities And Their Scientific Basic > Flashcards

Congenital Abnormalities And Their Scientific Basic Flashcards

1
Q

Meaning of congenital

A

Present at birth, does not denote aetiology

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2
Q

What is an anomaly

A

Structural deviation from the norm

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3
Q

What are congenital abnormalities

A

Occur when normal embryonic development is disrupted

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4
Q

What is a deformation

A

Late changes in previously normal structures (mechanical effect)

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5
Q

What is disruption

A

Secondary disturbance due to early influence of external factors

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6
Q

What is malformation

A

Primary disturbance of embryogenesis

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7
Q

How are congenital anomalies classified

A

By cause
Timing ( explains problem)

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8
Q

Difference between disruption and deformation

A

Disruption: starts out okay then goes wrong

Deformation = was okay but then is squashed

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9
Q

What is sequence:

A

One primary error with a cascade of events and consequences

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10
Q

What can aetiology be grouped into

A

Single gene defects = 20%

Chromosomal = 10%

Polygenic = 25-30%

Teratogenic = 6-9%

Unknown = 35-40%

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11
Q

What is the difference between a primary and secondary anomaly

A

Primary is at the genetic level and maybe due to chromosomal, single gene or polygenic factors

Whilst a secondary anomaly is due to an external factor such as a teratogen

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12
Q

Examples of congenital infections that are teratogenous

A

Toxoplasmosis

Others = varicella, parvovirus and syphilis

Rubella

Cytomegalovirus

HIV

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13
Q

Examples of environmental pollutants and drugs that are teratogenic

A

Vitamin A

Pesticides

Medication

Alcohol

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14
Q

Examples of maternal metabolic diseases that maybe teratogenic

A

DM

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15
Q

What else is teratogenic

A

Radiation exposure

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16
Q

What are the early effects (classification by timing)

A

In 2-4 weeks

Polytropic defects = scattered pattern with significant effect on cell populations

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17
Q

What are the late effects

A

4-8 weeks of gestation

Monotropic effects - localised defects due to formation of sub-populations of cells

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18
Q

Effects in the foetal period -

A

Greater than 9 weeks

Organogenesis so specific organs or systems are affected

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19
Q

Examples of deformities

A

Talipes - club foot

Congenital hip deformation

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20
Q

What is talipes

A

Example of a deformity in which the feet have been squashed during development and have a clubbed appearance

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21
Q

What is congenital hip deformation

A

Where morphology and alignment of the hip/hips have been squashed during development

22
Q

Examples of disruption

A

Amniotic bands (strips of amniotic membrane)

Poland anomaly

23
Q

What are amniotic bands

A

Form of disruptive anomaly in which strips of the amniotic membrane wrap around limbs or digits and cause constriction of the blood supply. Can cause ischaemia and loss of digit or limb

24
Q

What is the Poland anomaly

A

A form of disruptive anomaly in which there is unilateral absence of pectoralis major muscle due to the interruption of the subclavian artery. Loss of supply and nutrients occurs

25
Q

Examples of sequence anomalies

A

Potter sequence

Pierre robin sequence

26
Q

What is potter sequence

A

True kidneys do not develop properly (renal agenesis) so no foetal urine production which causes oligohydroamnios

The lack of amniotic fluid causes mechanical squashing

Results in baby with limb deformities, respiratory failure due to pulmonary hypoplasia.
Face has low set ears, slanted eyes and a beaked nose

27
Q

What is Pierre robin sequence

A

Begins with mandibular hyperplasia which does not allow tongue to drop which then affects the development of the palate

28
Q

In what ways can a single gene be impacted

A

Mutation

Deletion

29
Q

In which ways can chromosomes be impacted

A

Translocation

Microdeletions

Duplications as seen in downs, Edward’s and Pataus

30
Q

What is di George syndrome

A

Deletion of a section of the 22nd chromosome

Specifically 22q11.2

Contains an important gene for development called TBX-1

31
Q

What gene is implicated in di George syndrome

A

TBX-1

32
Q

What are the range of anomalies experienced in di George syndrome

A

Hormonal and immunological disturbances due to development of thymus and parathyroid glands being affected

Speech delay and delayed development in infancy
Cardiac anomalies
Hypocalcemia?

33
Q

The embryonic development of which structures is affected in Di George syndrome

A

Failure to develop 3 and 4th pharyngeal pouches which gives rise to thymus and parathyroid glands

34
Q

What is charge syndrome

A

A heterozygous mutation in CHD7 gene

CHD7 = chromodomain helicase DNA binding domain, ATP dependent chromatin remodeller

35
Q

Why is expression of CHD7 gene vital

A

Expression allows for the production of multi potent neural crest cells

So is important in the development of the heart, the head + neck and the adrenal medulla

36
Q

What does CHARGE stand for

A

C = coloboma = missing piece of tissue that makes up your eye
H = heart defects
A = choanol atresia (choanae are blocked by bone or tissue)
R = growth and developmental retardation
G = genital hypoplasia
E = ear defects

37
Q

What do the neural crest cells give rise to

A

Sensory ganglia of the cranial nerves
Ganglia of the ANS
Spinal ganglia

Glial cells
Schwann cells

Pigment cells - melanocytes

Adrenomedullary cells
Calcitonin producing cells

38
Q

Spina bifida is resulted when failure to close which Neuropore occurs

A

Caudal neuropore

39
Q

Spina bifida defect can occur anywhere along the length of the neural tube but where is the most common location

A

Lumbosacral region

40
Q

What also accompanies spina bifida

A

Hydrocephalus
And sometimes neurological deficits

41
Q

How is development of spina bifida multi-factorial

A

Genetic
Environmental
Maternal nutritional status

42
Q

What is the incidence of Di George syndrome

A

1 in every 3000 births

43
Q

Incidence of FAS

A

1/100 births

44
Q

The facial skeleton is derived from what

A

Neural crest cells populating the pharyngeal arches

The migration of neural crest cells is extremely sensitive to alcohol

45
Q

What is congenital rubella syndrome

A

Viral infections affects development of organs of special senses, heart

Microcephaly

PDA patent ductus arteriosus

Cataracts

46
Q

Congenital anomalies affect what % of liveborn infants

A

3%

Causing perinatal and neonatal death and disability

47
Q

What is the lifelong impact to child and family y

A

20-30% admissions to tertiary care.

Emotional and physical wellbeing impacted

Financial cost

Historical beliefs still present in some cultures where it is believed that cause is supernatural/ associated with witchcraft

48
Q

What is the number one cause of neonatal deaths worldwide

A

Pre term birth complications 34%

Congenital anomalies account for 9%

49
Q

What types of screening are available

A

Pre conception = genetic counselling

Antenatal screening = in first and second trimester

Newborn screening examination

50
Q

What antenatal screening is available in first trimester

A

Triple test (looks at levels of alpha fetoprotein, hCG and estriol

Nucal fold (increased thickness is associated with anomalies)

51
Q

What antenatal screening cna be carried out in the second trimester

A

Anomaly scan at 20 weeks

Block 11 (13 decks)

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