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Genetics > Genetic counselling in the prenatal setting > Flashcards

Genetic counselling in the prenatal setting Flashcards

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1
Q

Aim

A

*Prenatal screening and prenatal diagnosis – common counselling situations
* Basic principles of genetic counseling
* Information giving, supporting decision-making and following breaking of bad news
* Prenatal genetic testing

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2
Q

What is the primary goal of genetic counseling in the prenatal context?

A

The goal is to promote the patient’s self-determination in exercising choices

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3
Q

What are the aims of genetic counseling in the prenatal context?

A

*Deliver personalized genetic information to the patient in a useful way.
*Explore the meaning of the information with the patient in light of personal values and beliefs.
*Promote the patient’s preferences for reproductive options with consideration of alternatives, consequences, and barriers.
*Prepare the patient for accepting the outcome of the choice/s.

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4
Q

indications for genetic counselling

A
  1. prenatal risk for down syndrome: AMA or other screening
  2. ultrasound identified abnormalities
  3. family history of genetic condition e.g. cystic fibrosis
  4. previous abnormality e.g. child with down syndrome
  5. exposure to teratogens
  6. consanguinity
  7. increased risk of recessive conditions
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5
Q

examples of teratogens

A

o Medications - Drug categories
o Contraindicated
 Roaccutane
 Warfarin
 Carbamazepine

o Infections
 TORCH

o Maternal illness
 Uncontrolled diabetes

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6
Q

basics principles of genetic counselling in prenatal setting

A

 Respect and establish trust
 Confidentiality
 Patient autonomy / non-directiveness
 Empathy
 Non-judgmental attitude
 Patient advocate
 Individualization
 Sensitivity to language and cultural differences
 Role of health professional: ‘supportive’,
‘enabler’

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7
Q

What is the significance of advanced maternal age (AMA) in pregnancy?

A

Advanced maternal age increases the risk of chromosomal abnormalities in the fetus and may be associated with underlying diseases that can elevate the risk of congenital abnormalities in the offspring, such as Diabetes Mellitus.

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8
Q

How does the risk of chromosomal abnormalities change with increasing maternal age?

A

The risk of chromosomal abnormalities in the fetus increases as the maternal age advances

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9
Q

What are some examples of underlying diseases in older mothers that may affect pregnancy?

A

Diabetes Mellitus is one example of an underlying disease that older mothers may have, which can increase the risk of congenital abnormalities in their offspring.

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10
Q

what age is advanced age

A

woman> 35

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11
Q

risk in in 20 year old

A

1 in 1500

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12
Q

risk in a 35 year old

A

1 in 400

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13
Q

risk in a 40 year old

A

1 in 110

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14
Q

risk in a 45 year old

A

1 in 25

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15
Q

What needs to be covered in a typical session?

A

o Setting the scene: Quiet private setting, introductions, establish rapport,
expectations

o Family history, pedigree, pregnancy history

o Providing information - about:
 AMA and increased risk of chromosomal disorders
 Natural history of condition, e.g. Down syndrome (visual aids)
 Individual risk
 Other risk factors (soft signs on u/s), family history)
 Tests available (advantages, disadvantages, limitations)
 Waiting period- anxiety
 Possible outcomes and options available
 Potential psychosocial implications of results
 Assess understanding of information
 Decision-making process (incl, role of counsellor as facilitator and providing
support), in context of individual’s beliefs, values, socio-economic
circumstances, emotional stability, attitude to TOP/disability, risk
interpretation etc.
 Reasons for uptake/refusal
 Waiting period or uncertain results- anxiety
 Obtaining informed consent

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16
Q

What is the primary purpose of screening tests in prenatal care?

A

Screening tests are primarily used to provide an indication of the likelihood that the fetus has a specific condition, aiding in identifying cases that may benefit from further diagnostic testing.

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17
Q

How do screening tests differ from diagnostic tests in prenatal care?

A

Screening tests are non-invasive and offer an indication of the likelihood of a specific condition in the fetus, while diagnostic tests provide a clear diagnosis but carry a risk of miscarriage

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18
Q

What is the potential benefit of identifying cases through screening tests?

A

Screening tests can identify cases that may benefit from further diagnostic testing, allowing for timely intervention or management if necessary

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19
Q

types of screening tests

A
  1. ultrasound in first trimester
  2. maternal serum screening
  3. ultrasound in second trimester
  4. non invasive prenatal screening
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20
Q

What is the timing of the Nuchal Translucency (NT) scan during pregnancy?

A

The NT scan is typically performed between 11 and 13 weeks of pregnancy.

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21
Q

What conditions can the Nuchal Translucency (NT) scan detect?

A

An increased NT measurement can detect up to 75% of cases of Down syndrome when combined with BhCG and PAPP-A tests. Additionally, the presence or absence of a nasal bone can further increase the accuracy to 95%.

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22
Q

What are some additional markers that can be assessed during the first trimester ultrasound?

A

New ultrasound markers are continuously being added to improve detection rates and accuracy. These may include various fetal measurements and structural features

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23
Q

What is the false positive rate associated with the Nuchal Translucency (NT) scan?

A

The false positive rate of the NT scan is around 5%.

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24
Q

Apart from Down syndrome, what other major abnormalities can be detected during the first trimester ultrasound?

A

Major abnormalities such as anencephaly can also be detected during the first trimester ultrasound screening

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25
Q

When is maternal serum screening typically performed during pregnancy?

A

Maternal serum screening is usually conducted between 15 and 18 weeks of gestation.

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26
Q

What is included in the “triple test” for maternal serum screening?

A

The “triple test” includes the measurement of alpha-fetoprotein (AFP), beta-hCG (BhCG), and oestradiol levels in maternal serum.

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27
Q

How does the detection rate of Trisomy 21 (Down syndrome) vary with maternal age in maternal serum screening?

A

The detection rate for Trisomy 21 is around 60% for women under 35 years old and increases to 75-90% for women aged 35 and older.

28
Q

What is the purpose of the 4 in 1 test in maternal serum screening?

A

The 4 in 1 test adds dimeric inhibin A to the triple test, increasing the detection rate of abnormalities by approximately 10%.

29
Q

How is increased alpha-fetoprotein (AFP) in maternal serum screening useful?

A

Increased AFP levels in maternal serum screening can be indicative of open neural tube defects (NTDs), making it a useful marker for their detection.

30
Q

Is maternal serum screening typically offered in state healthcare systems?

A

No, maternal serum screening is often not offered in state healthcare systems.

31
Q

what is the detection rate of T18 in maternal serum screening

A

60- 75%

32
Q

What is the timing of the Fetal Anomaly (FA) scan during the second trimester?

A

The FA scan is typically performed between 18 and 23 weeks of gestation

33
Q

What are some examples of soft markers observed during the second trimester ultrasound?

A

Soft markers include echogenic bowel, short femur, short humerus, nuchal fold measuring more than 6mm, hypoplastic nasal bone, and hydronephrosis.

34
Q

What are examples of major abnormalities that can be detected during the second trimester ultrasound?

A

Major abnormalities that can be detected during the second trimester ultrasound include cardiac defects and neural tube defects.

35
Q

What is the significance of echogenic bowel as a soft marker during ultrasound?

A

Echogenic bowel can be a soft marker for various fetal conditions, including chromosomal abnormalities and gastrointestinal issues.

36
Q

How is the presence of a hypoplastic nasal bone assessed during ultrasound, and why is it significant?

A

The presence of a hypoplastic nasal bone is assessed during ultrasound, and its absence can be indicative of chromosomal abnormalities, particularly Down syndrome

37
Q

Can hydronephrosis be detected during the second trimester ultrasound, and what does it indicate?

A

Yes, hydronephrosis can be detected during the second trimester ultrasound and may indicate an obstruction in the urinary tract or other kidney abnormalities

38
Q

What is the primary method used in non-invasive prenatal screening (NIPS/NIPT)?

A

Non-invasive prenatal screening utilizes cell-free DNA (cfDNA) extracted from maternal blood to detect fetal DNA.

39
Q

How does non-invasive prenatal screening (NIPS/NIPT) detect fetal DNA?

A

Non-invasive prenatal screening detects fetal DNA present in maternal blood, offering a glimpse into the fetal genetic makeup without invasive procedures like amniocentesis

40
Q

Which condition is non-invasive prenatal screening (NIPS/NIPT) most accurate for?

A

Non-invasive prenatal screening is the most accurate for screening Down syndrome (Trisomy 21).

41
Q

Besides Down syndrome, what other trisomies can non-invasive prenatal screening (NIPS/NIPT) screen for?

A

Non-invasive prenatal screening can also screen for other trisomies, but with lower sensitivity compared to Down syndrome

42
Q

How is a fetal karyotype typically obtained?

A

A fetal karyotype is typically obtained through procedures such as
chorionic villus sampling (CVS),
amniocentesis, or
cordocentesis

43
Q

What is chorionic villus sampling (CVS), and when is it usually performed?

A

Chorionic villus sampling (CVS) is typically performed between 11 and 13 weeks of gestation to obtain fetal genetic material from the placenta

44
Q

What is the approximate risk of miscarriage associated with chorionic villus sampling (CVS)?

A

The risk of miscarriage associated with chorionic villus sampling (CVS) is around 1-2%

45
Q

How long does it typically take to receive results from chorionic villus sampling (CVS)?

A

Results from chorionic villus sampling (CVS) are usually available within 2-3 weeks after the procedure.

46
Q

What is amniocentesis, and when is it usually performed?

A

Amniocentesis involves obtaining amniotic fluid to analyze fetal genetic material and is typically performed between 16 and 20 weeks of gestation

47
Q

What is the approximate risk of miscarriage associated with amniocentesis?

A

The risk of miscarriage associated with amniocentesis is approximately 1 in 500 procedures.

48
Q

How long does it typically take to receive results from amniocentesis?

A

Results from amniocentesis are typically available within 72 hours or up to 3 weeks, depending on the specific test being performed.

49
Q

What is cordocentesis, and when is it usually performed?

A

Cordocentesis involves obtaining a sample of fetal blood from the umbilical cord and is typically performed after 20 weeks of gestation.

50
Q

What is the approximate risk of miscarriage associated with cordocentesis?

A

The risk of miscarriage associated with cordocentesis is around 2%

51
Q

How long does it typically take to receive results from cordocentesis?

A

Results from cordocentesis are usually available within 3 days after the procedure

52
Q

What is the typical timeframe for receiving results from a karyotype analysis?

A

Results from a karyotype analysis usually take 2 to 3 weeks to be processed and reported.

53
Q

What information does a karyotype analysis provide?

A

A karyotype analysis provides information on both numerical and structural abnormalities of all chromosomes, offering a comprehensive view of the fetal genetic makeup.

54
Q

When is a karyotype analysis indicated during prenatal testing?

A

A karyotype analysis is indicated when multiple abnormalities are detected on ultrasound, suggesting the possibility of chromosomal abnormalities.

55
Q

What is FISH (Fluorescent In Situ Hybridization) used for in prenatal testing?

A

FISH is a rapid testing method that can provide results within 2-3 days and is typically requested when there is suspicion of specific chromosomal abnormalities such as trisomies 13, 18, 21, or sex chromosome abnormalities

56
Q

What are the limitations of FISH testing compared to a full karyotype analysis?

A

FISH testing provides information only about specific chromosomal abnormalities and does not provide a full karyotype, limiting its ability to detect other chromosomal abnormalities beyond those targeted

57
Q

What is QF-PCR (Quantitative Fluorescent Polymerase Chain Reaction) used for in prenatal testing?

A

QF-PCR provides rapid results within 72 hours and is typically used to detect specific chromosomal abnormalities such as trisomies 13, 18, 21, and sex chromosome abnormalities.
no culture required

58
Q

What is a limitation of QF-PCR compared to a full karyotype analysis?

A

QF-PCR cannot distinguish between trisomy and chromosomal translocations, which may limit its diagnostic accuracy in certain cases

Indicated when one of the above trisomies are suspected

59
Q

Why is a full karyotype analysis sometimes necessary despite rapid testing methods like FISH or QF-PCR?

A

A full karyotype analysis is needed to determine the recurrence risk of chromosomal abnormalities and to fully understand the implications for the family’s genetic health

60
Q

Delivering results in case of positive diagnostic test

A

 Breaking bad news (After Robert Buckman’s six step protocol)
o Getting started
o How much does the patient know
o How much does the patient want to know
o Information sharing
o Responding to feelings
o Planning and follow-up

 Grief response
o Denial, anger, bargaining, depression, acceptance
o Search for cause.
o Guilt
o May be couple differences in reaction to diagnosis.

60
Q

What are the conditions under which termination of pregnancy is permitted within the first 12 weeks according to the Choice on Termination of Pregnancy Act, 1996?

A

Termination of pregnancy is permitted upon request within the first 12 weeks of gestation.

60
Q

Doctor/ genetic counsellor should provide:

A

o Non-directive genetic counselling on abnormal results
o Diagnosis and prognosis for the fetus
o Discussion of options related to pregnancy
* TOP (TOP act*)
* TOP for Down syndrome allowed up to 24 weeks
o Full implications of all choices
o Time for decision-making
o Supportive counseling

61
Q

The doctor/ genetic counsellor, at all times, must:

A

o Maintain a non-judgmental attitude
o Accept the policy of freedom of choice
o Believe in the rights and worth of the individual
o Believe that people choose what is right for them in their situation, and according to
their values and beliefs
o Provide individualized counselling

62
Q

What are the criteria for termination of pregnancy between 13 and 20 weeks under the Choice on Termination of Pregnancy Act, 1996?

A

a medical practitioner in consultation with the woman finds a :
– Risk of injury to the physical or mental health of the woman
– Substantial risk of severe physical or mental abnormality to the fetus
– Rape or incest
– Significant effect to the social or economic circumstances of the woman

63
Q

Under what circumstances can termination of pregnancy be allowed after 20 weeks according to the Choice on Termination of Pregnancy Act, 1996?

A

a medical practitioner, after consultation with another medical practitioner
or a registered midwife, finds that the pregnancy will:
– Endanger the woman’s life
– Result in severe malformation of the fetus
– Pose risk of injury to the fetus

Genetics (1 decks)

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