ABGC EXAM PREP CORRECT
QUESTIONS & ANSWERS|| LATEST
UPDATE 2025|| VERIFIED A+
Advanced Empathy - ANSWER Used to go below the surface of a conversation
Reflection of things not directly stated
Includes reframing and interpretation
confrontation - ANSWER Asking the client to see things differently
Use it for the client's advantage
Rogerian Counseling: Person-First Counseling - ANSWER 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? - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER how accurately and reliably the test measures genotype of
interest
Clinical validity - ANSWER 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 - ANSWER how likely the test is to significantly improve outcome
Locus heterogeneity - ANSWER mutations in different genes can cause similar/identical
phenotype
Allelic heterogeneity - ANSWER different mutations in the same gene can cause
similar/identical phenotype
Phenotypic heterogeneity - ANSWER different mutations within the same gene can
cause very different phenotypes
Robertsonian Translocation - ANSWER 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 - ANSWER 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 - ANSWER Includes the centromere
Can produce both balanced and unbalanced
, The longer the inversion segment, the increased chance of viable, but abnormal
offspring
Paracentric Inversion - ANSWER Does not include centromere
Most result in non-viable offspring when recombination within the inversion occurs
Malformation - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER 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
Frequently have underlying genetic etiology
G's and P's - ANSWER Gravidity - how many total pregnancies (includes current
pregnancy)
Parity
T - term deliveries (>37 weeks (twin =1))
P - preterm deliveries
A - abortions (miscarriages prior to 20 wks)
L - living children
Spontaneous abortions - ANSWER occur in ~15-20% of recognized pregnancies
Of 1st trimester SABs - 50-70% are d/t abnormal chromosomes
Trisomy 16 is the most common, followed by Turner
Recurrent pregnancy loss - ANSWER 3+ consecutive losses prior to 20 weeks
Possible etiologies: 40-50% unexplained, 20% autoimmune, 17-20% endocrine
(diabetes, PCOS), 10-15% anatomic (uterine malformation, cervical insufficiency, 2-5%
genetic (parental balanced translocation, mosaicism, etc), 0.5-5% infection (CMV,
parvo, toxo)
NSGC recommendations for multiple miscarriages (2005 guidelines)
Microarray or chromosome analysis of POC
Karyotype parents
QUESTIONS & ANSWERS|| LATEST
UPDATE 2025|| VERIFIED A+
Advanced Empathy - ANSWER Used to go below the surface of a conversation
Reflection of things not directly stated
Includes reframing and interpretation
confrontation - ANSWER Asking the client to see things differently
Use it for the client's advantage
Rogerian Counseling: Person-First Counseling - ANSWER 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? - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER how accurately and reliably the test measures genotype of
interest
Clinical validity - ANSWER 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 - ANSWER how likely the test is to significantly improve outcome
Locus heterogeneity - ANSWER mutations in different genes can cause similar/identical
phenotype
Allelic heterogeneity - ANSWER different mutations in the same gene can cause
similar/identical phenotype
Phenotypic heterogeneity - ANSWER different mutations within the same gene can
cause very different phenotypes
Robertsonian Translocation - ANSWER 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 - ANSWER 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 - ANSWER Includes the centromere
Can produce both balanced and unbalanced
, The longer the inversion segment, the increased chance of viable, but abnormal
offspring
Paracentric Inversion - ANSWER Does not include centromere
Most result in non-viable offspring when recombination within the inversion occurs
Malformation - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER 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
Frequently have underlying genetic etiology
G's and P's - ANSWER Gravidity - how many total pregnancies (includes current
pregnancy)
Parity
T - term deliveries (>37 weeks (twin =1))
P - preterm deliveries
A - abortions (miscarriages prior to 20 wks)
L - living children
Spontaneous abortions - ANSWER occur in ~15-20% of recognized pregnancies
Of 1st trimester SABs - 50-70% are d/t abnormal chromosomes
Trisomy 16 is the most common, followed by Turner
Recurrent pregnancy loss - ANSWER 3+ consecutive losses prior to 20 weeks
Possible etiologies: 40-50% unexplained, 20% autoimmune, 17-20% endocrine
(diabetes, PCOS), 10-15% anatomic (uterine malformation, cervical insufficiency, 2-5%
genetic (parental balanced translocation, mosaicism, etc), 0.5-5% infection (CMV,
parvo, toxo)
NSGC recommendations for multiple miscarriages (2005 guidelines)
Microarray or chromosome analysis of POC
Karyotype parents
