ABGC BOARD PREP EXAM |ACTUAL QUESTIONS
AND VERIFIED ANSWERS|BRAND NEW 2026-2027
UPDATE|GRADED A+
Question 1
The most common autosomal trisomy in human conceptions is:
A) Trisomy 8
B) Trisomy 16
C) Trisomy 18
D) Trisomy 21
CORRECT ANSWER
B - Trisomy 16
Many miscarriages are due to trisomy 16
Question 2
A 35 year old woman had a previous child with Down syndrome. She had negative
preimplantation genetic screening in the current pregnancy. She presents for genetic
counseling at 10 weeks gestation. What is the BEST option to assess her risk for fetal
aneuploidy?
A) None
B) Cell free DNA screening
C) Sequential screening
D) Prenatal diagnosis
CORRECT ANSWER
D - prenatal diagnosis
Not cfDNA because it looks at same sample type (placenta) as PGT.
1
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,Question 3
According to professional guidelines, all of the following should be discussed as part of
pretest counseling for expanded carrier screening except:
A) Some conditions have less defined phenotype
B) Because so many conditions are rare, disease prevalence, mutation frequencies, and
detection rates may be imprecise and residual risk estimates may not be reliable
C) Screening panels change over time, because there may be differences between
laboratories in the conditions screened, updated carrier screening should be considered
with each pregnancy
D) Screen-negative results reduce the likelihood of the carrier state for conditions, but a
residual risk of being a carrier always remains
CORRECT ANSWER
C
Even though this is NOT what would happen in clinic.
Question 4
Which of the following is NOT true about carriers of a premutation of the FMR1 gene?
A) Females are at increased risk for premature ovarian insufficiency
B) Only males are at increased risk for fragile X tremor/ataxia (FXTAS)
C) Females are at increased risk of having a child with a full mutation
D) Males are at increased risk of having a grandchild with a full mutation
CORRECT ANSWER
B
Question 5
Which of the following is NOT a population with increased risk for thalassemia?
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,A) African American
B) Japanese
C) Hispanic
D) Italian
CORRECT ANSWER
B
Question 6
Which of the following features identified by prenatal ultrasound are suggestive markers
for 22q11.2 deletion syndrome?
A) Absent thymus
B) Congenital heart defect
C) Polyhydraminos
D) All of the above
CORRECT ANSWER
D
Question 7
A 20 week ultrasound reveals bilateral postaxial polydactyly, occipital encephalocele, and
bilateral renal cysts. The patient has previously undergone amniocentesis for advanced
maternal age, which revealed a normal chromosome microarray. The most likely diagnosis
is:
A. Trisomy 13
B. 22q11.2 deletion syndrome
C. Autosomal recessive polycystic kidney disease
D. Meckel-Gruber syndrome
CORRECT ANSWER
3
@THE STUDY VAULT
, D
Question 8
An increased nuchal translucency measurement was identified on a 12 week ultrasound.
Which additional testing pathways is most appropriate?
A) Cell free DNA screening and anatomy ultrasound
B) Karyotype analysis, prenatal FISH for 22q deletion, anatomy ultrasound
C) Chromosome microarray, anatomy ultrasound, fetal echocardiogram
D) Cell free DNA screening, anatomy ultrasound, and fetal echocardiogram
CORRECT ANSWER
C
Question 9
The gestational age where there is the greatest potential risk for congenital
cytomegalovirus infection is when?
A) First trimester
B) Second trimester
C) Third trimester
D) All of the above
CORRECT ANSWER
A
Question 10
4
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AND VERIFIED ANSWERS|BRAND NEW 2026-2027
UPDATE|GRADED A+
Question 1
The most common autosomal trisomy in human conceptions is:
A) Trisomy 8
B) Trisomy 16
C) Trisomy 18
D) Trisomy 21
CORRECT ANSWER
B - Trisomy 16
Many miscarriages are due to trisomy 16
Question 2
A 35 year old woman had a previous child with Down syndrome. She had negative
preimplantation genetic screening in the current pregnancy. She presents for genetic
counseling at 10 weeks gestation. What is the BEST option to assess her risk for fetal
aneuploidy?
A) None
B) Cell free DNA screening
C) Sequential screening
D) Prenatal diagnosis
CORRECT ANSWER
D - prenatal diagnosis
Not cfDNA because it looks at same sample type (placenta) as PGT.
1
@THE STUDY VAULT
,Question 3
According to professional guidelines, all of the following should be discussed as part of
pretest counseling for expanded carrier screening except:
A) Some conditions have less defined phenotype
B) Because so many conditions are rare, disease prevalence, mutation frequencies, and
detection rates may be imprecise and residual risk estimates may not be reliable
C) Screening panels change over time, because there may be differences between
laboratories in the conditions screened, updated carrier screening should be considered
with each pregnancy
D) Screen-negative results reduce the likelihood of the carrier state for conditions, but a
residual risk of being a carrier always remains
CORRECT ANSWER
C
Even though this is NOT what would happen in clinic.
Question 4
Which of the following is NOT true about carriers of a premutation of the FMR1 gene?
A) Females are at increased risk for premature ovarian insufficiency
B) Only males are at increased risk for fragile X tremor/ataxia (FXTAS)
C) Females are at increased risk of having a child with a full mutation
D) Males are at increased risk of having a grandchild with a full mutation
CORRECT ANSWER
B
Question 5
Which of the following is NOT a population with increased risk for thalassemia?
2
@THE STUDY VAULT
,A) African American
B) Japanese
C) Hispanic
D) Italian
CORRECT ANSWER
B
Question 6
Which of the following features identified by prenatal ultrasound are suggestive markers
for 22q11.2 deletion syndrome?
A) Absent thymus
B) Congenital heart defect
C) Polyhydraminos
D) All of the above
CORRECT ANSWER
D
Question 7
A 20 week ultrasound reveals bilateral postaxial polydactyly, occipital encephalocele, and
bilateral renal cysts. The patient has previously undergone amniocentesis for advanced
maternal age, which revealed a normal chromosome microarray. The most likely diagnosis
is:
A. Trisomy 13
B. 22q11.2 deletion syndrome
C. Autosomal recessive polycystic kidney disease
D. Meckel-Gruber syndrome
CORRECT ANSWER
3
@THE STUDY VAULT
, D
Question 8
An increased nuchal translucency measurement was identified on a 12 week ultrasound.
Which additional testing pathways is most appropriate?
A) Cell free DNA screening and anatomy ultrasound
B) Karyotype analysis, prenatal FISH for 22q deletion, anatomy ultrasound
C) Chromosome microarray, anatomy ultrasound, fetal echocardiogram
D) Cell free DNA screening, anatomy ultrasound, and fetal echocardiogram
CORRECT ANSWER
C
Question 9
The gestational age where there is the greatest potential risk for congenital
cytomegalovirus infection is when?
A) First trimester
B) Second trimester
C) Third trimester
D) All of the above
CORRECT ANSWER
A
Question 10
4
@THE STUDY VAULT
