ABGC Exam Prep ACTUAL QUESTIONS
AND CORRECT ANSWERS
Advanced Empathy - CORRECT ANSWERS Used to go below the
surface of a conversation
Reflection of things not directly stated
Includes reframing and interpretation
confrontation - CORRECT ANSWERS Asking the client to see things
differently
Use it for the client's advantage
Rogerian Counseling: Person-First Counseling - CORRECT ANSWERS
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? - CORRECT ANSWERS 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.
,Primary Empathy - CORRECT ANSWERS 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 - CORRECT ANSWERS 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
Analytic validity - CORRECT ANSWERS how accurately and reliably
the test measures genotype of interest
,Clinical validity - CORRECT ANSWERS 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 - CORRECT ANSWERS how likely the test is to
significantly improve outcome
Locus heterogeneity - CORRECT ANSWERS mutations in different
genes can cause similar/identical phenotype
Allelic heterogeneity - CORRECT ANSWERS different mutations in the
same gene can cause similar/identical phenotype
Phenotypic heterogeneity - CORRECT ANSWERS different mutations
within the same gene can cause very different phenotypes
Robertsonian Translocation - CORRECT ANSWERS 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 - CORRECT ANSWERS 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
Previous unbalanced child: 20% RR
Previous multiple SABs: 3-4% RR
Pericentric Inversion - CORRECT ANSWERS Includes the centromere
Can produce both balanced and unbalanced
The longer the inversion segment, the increased chance of viable, but abnormal
offspring
Paracentric Inversion - CORRECT ANSWERS Does not include
centromere
Most result in non-viable offspring when recombination within the inversion
occurs
Malformation - CORRECT ANSWERS 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 - CORRECT ANSWERS 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 - CORRECT ANSWERS 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
AND CORRECT ANSWERS
Advanced Empathy - CORRECT ANSWERS Used to go below the
surface of a conversation
Reflection of things not directly stated
Includes reframing and interpretation
confrontation - CORRECT ANSWERS Asking the client to see things
differently
Use it for the client's advantage
Rogerian Counseling: Person-First Counseling - CORRECT ANSWERS
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? - CORRECT ANSWERS 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.
,Primary Empathy - CORRECT ANSWERS 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 - CORRECT ANSWERS 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
Analytic validity - CORRECT ANSWERS how accurately and reliably
the test measures genotype of interest
,Clinical validity - CORRECT ANSWERS 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 - CORRECT ANSWERS how likely the test is to
significantly improve outcome
Locus heterogeneity - CORRECT ANSWERS mutations in different
genes can cause similar/identical phenotype
Allelic heterogeneity - CORRECT ANSWERS different mutations in the
same gene can cause similar/identical phenotype
Phenotypic heterogeneity - CORRECT ANSWERS different mutations
within the same gene can cause very different phenotypes
Robertsonian Translocation - CORRECT ANSWERS 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 - CORRECT ANSWERS 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
Previous unbalanced child: 20% RR
Previous multiple SABs: 3-4% RR
Pericentric Inversion - CORRECT ANSWERS Includes the centromere
Can produce both balanced and unbalanced
The longer the inversion segment, the increased chance of viable, but abnormal
offspring
Paracentric Inversion - CORRECT ANSWERS Does not include
centromere
Most result in non-viable offspring when recombination within the inversion
occurs
Malformation - CORRECT ANSWERS 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 - CORRECT ANSWERS 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 - CORRECT ANSWERS 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
