ABGC Exam Prep Questions and Answers 100%
Pass
Advanced Empathy - ✔✔Used to go below the surface of a conversation
Reflection of things not directly stated
Includes reframing and interpretation
confrontation - ✔✔Asking the client to see things differently
Use it for the client's advantage
Rogerian Counseling: Person-First Counseling - ✔✔Unconditional positive regard
Be genuine
Show empathy, warmth, and caring
Be calm
Therapeutic alliance/ dignity and respect
Empathy
Collaboration
Positive regard
Shared goal setting/information sharing/active participation
What is non-directiveness? - ✔✔Genetic counseling is nondirective and aims to explain the facts as clearly
as possible, giving the client and their family accurate information regarding options in a way which they
can understand. Allow the client to make up their own mind.
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,Primary Empathy - ✔✔Purpose: lowers client anxiety, keeps the patient talking
Content level: surface level content
Effect on client: reassures the client
Client relationship: clarifies and builds trust
Timing: may occur throughout the session
Reflects the client's point of view
Primary empathy consists of:
Minimal encouragers: feeling reflection
Paraphrasing: use your own words to capture the essence of what a patient is sharing
Summarizing: longer than paraphrase - good for transition and ending a session
Content reflection: reflection of the feelings of the story
advanced empathy - ✔✔Purpose: counselor response goes beyond what the client expresses and goes
into inner thoughts and feelings, usually occurs late in a session
Content level: deals with hidden, implied content and affect
Effect on the client: challenges client
Client relationship: additive to client's explicit expressions
Timing: used sparingly
Reflects the counselor's point of view
Pay attention to nonverbal cues, point out recurring themes, make connections, point out alternatives,
develop logical progression for the client
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,Analytic validity - ✔✔how accurately and reliably the test measures genotype of interest
Clinical validity - ✔✔how consistently and accurately the test detects or predicts the final outcome
I.e. if the test detects a mutation, how well can we predict the phenotype
Clinical utility - ✔✔how likely the test is to significantly improve outcome
Locus heterogeneity - ✔✔mutations in different genes can cause similar/identical phenotype
Allelic heterogeneity - ✔✔different mutations in the same gene can cause similar/identical phenotype
Phenotypic heterogeneity - ✔✔different mutations within the same gene can cause very different
phenotypes
Robertsonian Translocation - ✔✔between two acrocentric chromosomes; both chroms lose p arm and get
stuck together
1:1,000 individuals are balanced rob trans carriers - most common chrom rearrangement
13q14q and 14q21q most common
33% theoretical risk of an abnormal gamete - empirical risk is different for different rob trans
Increased risk of trisomy of involved chroms
Increased risk of UPD if trisomy rescue occurs
Reciprocal Translocation - ✔✔breakage or recombination involving non-homologous chromosomes
1:500 individuals are balanced carriers
At risk for multiple miscarriages and abnormal offspring
Generally about 11% risk for unbalanced segregation
Empiric data - ascertainment dependent
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, Previous unbalanced child: 20% RR
Previous multiple SABs: 3-4% RR
Pericentric Inversion - ✔✔Includes the centromere
Can produce both balanced and unbalanced
The longer the inversion segment, the increased chance of viable, but abnormal offspring
Paracentric Inversion - ✔✔Does not include centromere
Most result in non-viable offspring when recombination within the inversion occurs
Malformation - ✔✔structural differences that arise from a primary error (often genetic) in morphogenesis
or development
Usually occur in embryonic period; failure to form organ/tissue or incomplete or incorrect formation
Deformation - ✔✔an alteration in shape/structure of body part that formed normally - caused by non-
disruptive mechanical forces (external forces) ex: potter sequence d/t oligohydramnios
Ex: fetal movement restricted d/t twins/oligohydramnios
Disruption - ✔✔structural defect resulting from destruction of a body part that has differentiated
normally - ex: amniotic bands
Secondary defect that arises from an obstructive process, usually early in pregnancy
Usually sporadic with low RR
Dysplasia - ✔✔abnormal organization of cells into tissue as a consequence of generalized defect in
differentiation or growth
Often affect a tissue type throughout the body - ex: achondroplasia
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Pass
Advanced Empathy - ✔✔Used to go below the surface of a conversation
Reflection of things not directly stated
Includes reframing and interpretation
confrontation - ✔✔Asking the client to see things differently
Use it for the client's advantage
Rogerian Counseling: Person-First Counseling - ✔✔Unconditional positive regard
Be genuine
Show empathy, warmth, and caring
Be calm
Therapeutic alliance/ dignity and respect
Empathy
Collaboration
Positive regard
Shared goal setting/information sharing/active participation
What is non-directiveness? - ✔✔Genetic counseling is nondirective and aims to explain the facts as clearly
as possible, giving the client and their family accurate information regarding options in a way which they
can understand. Allow the client to make up their own mind.
Page 1/54
Crafted for Academic Insight by KatelynWhitman. All rights reserved © 2025
,Primary Empathy - ✔✔Purpose: lowers client anxiety, keeps the patient talking
Content level: surface level content
Effect on client: reassures the client
Client relationship: clarifies and builds trust
Timing: may occur throughout the session
Reflects the client's point of view
Primary empathy consists of:
Minimal encouragers: feeling reflection
Paraphrasing: use your own words to capture the essence of what a patient is sharing
Summarizing: longer than paraphrase - good for transition and ending a session
Content reflection: reflection of the feelings of the story
advanced empathy - ✔✔Purpose: counselor response goes beyond what the client expresses and goes
into inner thoughts and feelings, usually occurs late in a session
Content level: deals with hidden, implied content and affect
Effect on the client: challenges client
Client relationship: additive to client's explicit expressions
Timing: used sparingly
Reflects the counselor's point of view
Pay attention to nonverbal cues, point out recurring themes, make connections, point out alternatives,
develop logical progression for the client
Page 2/54
Crafted for Academic Insight by KatelynWhitman. All rights reserved © 2025
,Analytic validity - ✔✔how accurately and reliably the test measures genotype of interest
Clinical validity - ✔✔how consistently and accurately the test detects or predicts the final outcome
I.e. if the test detects a mutation, how well can we predict the phenotype
Clinical utility - ✔✔how likely the test is to significantly improve outcome
Locus heterogeneity - ✔✔mutations in different genes can cause similar/identical phenotype
Allelic heterogeneity - ✔✔different mutations in the same gene can cause similar/identical phenotype
Phenotypic heterogeneity - ✔✔different mutations within the same gene can cause very different
phenotypes
Robertsonian Translocation - ✔✔between two acrocentric chromosomes; both chroms lose p arm and get
stuck together
1:1,000 individuals are balanced rob trans carriers - most common chrom rearrangement
13q14q and 14q21q most common
33% theoretical risk of an abnormal gamete - empirical risk is different for different rob trans
Increased risk of trisomy of involved chroms
Increased risk of UPD if trisomy rescue occurs
Reciprocal Translocation - ✔✔breakage or recombination involving non-homologous chromosomes
1:500 individuals are balanced carriers
At risk for multiple miscarriages and abnormal offspring
Generally about 11% risk for unbalanced segregation
Empiric data - ascertainment dependent
Page 3/54
Crafted for Academic Insight by KatelynWhitman. All rights reserved © 2025
, Previous unbalanced child: 20% RR
Previous multiple SABs: 3-4% RR
Pericentric Inversion - ✔✔Includes the centromere
Can produce both balanced and unbalanced
The longer the inversion segment, the increased chance of viable, but abnormal offspring
Paracentric Inversion - ✔✔Does not include centromere
Most result in non-viable offspring when recombination within the inversion occurs
Malformation - ✔✔structural differences that arise from a primary error (often genetic) in morphogenesis
or development
Usually occur in embryonic period; failure to form organ/tissue or incomplete or incorrect formation
Deformation - ✔✔an alteration in shape/structure of body part that formed normally - caused by non-
disruptive mechanical forces (external forces) ex: potter sequence d/t oligohydramnios
Ex: fetal movement restricted d/t twins/oligohydramnios
Disruption - ✔✔structural defect resulting from destruction of a body part that has differentiated
normally - ex: amniotic bands
Secondary defect that arises from an obstructive process, usually early in pregnancy
Usually sporadic with low RR
Dysplasia - ✔✔abnormal organization of cells into tissue as a consequence of generalized defect in
differentiation or growth
Often affect a tissue type throughout the body - ex: achondroplasia
Page 4/54
Crafted for Academic Insight by KatelynWhitman. All rights reserved © 2025
