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Applied Anatomy > Genetic Material > Flashcards

Genetic Material Flashcards

1
Q

How common is chromosomal conditions in miscarriages

A

50%

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2
Q

Aneuploidy

A

More or fewer chromosomes than normal

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3
Q

Deletion

A

Whe part of chromosome is missing or part of dna code is missing

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4
Q

Inversion

A

A chromosome breaks and the piece of it turns around and reattaches itself

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5
Q

What is a ring chromosome

A

Where the ends are attached to itself to form a ring

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6
Q

Translocation

A

A chromosome segment rearranges from one location to another. It can happen either with in he same chromosome or move to another chromosome

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7
Q

Mosaicism

A

2 or more sets of chromosome in the cells with different genetic material

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8
Q

What is trisomy

A

Presence of extra chromosome

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9
Q

How does trisomy occur

A

Asa result of non disjunction - the paired chromosomes fail to move to opposite poles during meiosis so do not divide evenly
This leaves 1 chromosome in one cell and three in the other cel rather than. 2 and 2
Alll are fatal in utero apart from. Trisomy of chromosome 21 (downs),18 (Edward’s) and 13 (Patau)

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10
Q

What are the screening choices

A

No screening
Only downs
Only Edward’s and pataus
Downs edwards and pataus

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11
Q

What is combined screening for trisomy conditions

A

Ultrasound and blood test

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12
Q

When does combined screening happen

A

Between 11-14 week

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13
Q

What does the ultrasound do in combined screening

A

Measures the fluid on he back of the fetal neck - nucal translucency

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14
Q

What is measured in the blood test for screening test

A

PAPP-A and hCG levels

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15
Q

What is correlated with a foetus with trisomy condition

A

High measurement of nuchal fold
Low measurement of PAPP-A
High levels of hCG
Results from the tests are collated with maternal age to give individualism chance for foetus having downs

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16
Q

What is a high risk of downs

A

1;150 or less

17
Q

What is low risk of downs

A

1:151 or more

18
Q

Quadruple screening for downs

A

Blood test only takes place betweeen 14-20 weeks
Tests for alpha- fetal protein (AFP), human chlorionic gonadrotropin (hCG), estriol and inhibin A.- four markers
Less accurate than combined test - 5% false positive

19
Q

What is the NIPT

A

Non invasive prenatal testing is a folllow up screening test for a high chance result from imbibed or quadruple test
Takes sample of maternal blood and screens piece of DNA some of which are fetal from the placenta.it screens for more than expected levels of DNA from chromosomes 13,18 and 21
42 per 100,000 results will be a false productive

20
Q

Whe are autosomal dominant conditions screened an why

A

Under specific circumstances - family history
More likely to be known bout by the family so special screening can be offered

21
Q

Whe are autosomal recessive conditions screened and why

A

Offered routinely to pregnant women
Occurs less frequently in the family pedigree

22
Q

What is sickle cell diease

A

Red blood cells are sickle shaped rather than biconcave
They dump together abusing them to get stuck in small blood vessels
Can cause inflammatory diseases
Causes anaemia severe pain and life threatening infections.
Mainly affects people of Friday or Caribbean origin

23
Q

What is thalassaemia

A

Red blood cells produce no or little amounts of haemoglobin
It causes severe anaemia requiring frequent blood transfusion and medications

24
Q

Who does thalasseamia affect most

A

Mainly affects people of Mediterranean, south Asian southeast Asian and Middle Eastern origin

25
Q

How is screening for sickle cell and thalasseamia performed

A

Thalasseamia offfered to all
Screening for SCD offered to all who live in area of hig prevalence where greater then 1.5 per 10000 pregnancies affected by this condition
Blood test is performed before 10 weeks
If pregnant women is found to be a carrier the biological father of the unborn baby will be offered screening too
If both are carries the women will be offered diagnostic testing to see if the feus is affected by the condition

26
Q

How do you diagnostically test for fetal genetic conditions

A

Chorionic villus sampling
Amniocentesis
PCR
Microarray
Karyotyping

27
Q

Chlorionic villus sampling

A

Local anaesthetic used to numb the abdomen
Fine edge inserted intro abdominal to obtain a sample of placental tissue to test fetal dna
Ultrasound scan is used to guide the needle
Performed between 11-14 weeks but can be done later
Risk of miscarriage approx 0.5% following procedure

28
Q

Amniocentesis

A

Local anaesthetic used to numb abdomen
Fine needle inserted and sample of amniotic fluid is O’Brien’s
Ultrasound scan is used to guide the needle
Fetal dna in the amniotic fluid is tested for genetic conditions
Performed between 15 - 20 weeks but can be done later

29
Q

PCR

A

Heat and enzymes - polymerase - used to multiply, deconstructed then reconstruct dna so equipment can detect genetic variations
Results ina few days
Targets specific genetic changes

30
Q

Microarray

A

Lab tool used to detect the expression of thousands of genes at the same time
DNA microarrays are microscopic slides that are inter with thousands of tiny spot in defined positions with each spot contain a known dna sequence or gene
Sample compared with a reference sample o detect genetic differences

31
Q

Karyotyping

A

Pairing and ordering all the chromosome providing a genome - wide snapshot of an individuals chromosome
Staining used to reveal the structural feature on. Glass slide under a microscope

32
Q

What s neural tube defects

A

The neural tube develops to form the spinal ord, brain and spine
With a defect the spinal cord does not fs instead it remains open
Multi factorial condition cause by multiple genetic and multiple environment factors. Sub clinic a genetic mutation is exposed to aggravating conditions - including folate deficiency, maternal diabetes, anti-convulsant mdcation, smoking an obesity
Varies in severity from spinal bifilar - affects exposure of spinal cord - -to anencephaly - affects exposure/ absence of brain
Neural tube defects are primarily screened for at the 18-20 week anomaly ultrasound scan

33
Q

Who is involved in clinical genetics

A

Collaboration between
Family
Clinical genetics sevice
Cytogenetic laboratories molecular
Genetics laboratories
Other medical departments
Lay support groups

34
Q

What do clinical genetics do

A

Diagnose/confirm a genetic condition
Assess referred patients and relatives level of risk of a genetic condition
Provide required info
Provide psychological support
Make recommendations
Make referrals

35
Q

What are the aim of geneti counselling

A

Help the individuals and families to.
Understand he medical facts
Appreciate the way heredity contributes to the disorder and reoccur acne
Understand the options for dealing itch recurrence
Choose the course of action hichseems appropriate them
Make the best possible adjustment to the disorder

36
Q

What are the core principles of genetic counselling

A

Autonmy of individual
Patients right. Full and complete information ina Orem they understand
Preservation of confidentiality
Aimed at. Facultative decision making with time to explore all options

37
Q

What at the referra; pathways for clinical genetics

A

Patient contacts clinical genetics directly - self referral
Via g, midwife
Secondary care practioners
Clinical laboratories

38
Q

Who is offered a referral for genetic counselling

A

People who suspect they have genetic condition
People itch family history of genetic condition
Pregnancy people with genetic issues
People with a sting family family history of cancer
Infants and children suspected of having a genetic conditioon

39
Q

Role of midwife

A

Simplify terms
Gain consent
Provide support
Reassurance
Non judgmental,
No bias
Educate and inform

Applied Anatomy (15 decks)

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