PHYSICAL EXAMINATION AND HEALTH
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
TEST BANK
1
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 32-year-old woman presents for preconception counseling.
She reports a sister with cystic fibrosis (CF) and a family history
of childhood deaths from “lung problems.” Her partner’s history
is negative. A newborn screen in the sister’s generation was not
available. Genetic testing is currently declined by the partner.
What is the most appropriate next step in counseling and
assessment?
Page 1 of 987
,A. Reassure the couple since only one affected sibling exists and
proceed with routine prenatal care.
B. Offer carrier testing to the woman and strongly recommend
partner carrier testing; discuss CF inheritance and residual risk.
C. Recommend immediate invasive prenatal diagnostic testing
(amniocentesis) in the first trimester.
D. Suggest preimplantation genetic diagnosis (PGD) as the only
acceptable option to avoid CF.
Correct Answer
B
Rationale — Correct (B)
Jarvis emphasizes family history and targeted genetic testing for
risk assessment. With a sibling affected by CF (autosomal
recessive), the woman may be a carrier; partner testing
determines couple risk and residual risk. Counseling should
include inheritance, carrier probabilities, and testing options to
support informed decisions and safe prenatal planning.
Rationale — Incorrect
A. False reassurance ignores autosomal recessive inheritance
and leaves reproductive risk unassessed.
C. Amniocentesis is an invasive diagnostic test used after known
parental carrier status or abnormal screening; it is premature
without partner testing.
D. PGD is an option but is not the sole or immediate
recommendation; it is invasive, costly, and requires prior
carrier/embryo information.
Page 2 of 987
,Teaching Point
Test the at-risk partner; carrier testing informs couple’s
reproductive risk and next steps.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
2
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 46-year-old man brings a 3-generation family history: his
father had colorectal cancer at 52, an aunt at 49, and a
grandfather at 70. The patient has mild rectal bleeding but no
weight loss. On exam he has normal vitals and an irregular stool
guaiac test. How should you interpret the family pattern and
prioritize next steps?
A. The family pattern suggests familial colorectal cancer
syndrome; recommend early colonoscopy and refer for genetic
evaluation.
B. The irregular guaiac is likely hemorrhoids; reassure and
repeat the guaiac in six months.
C. Recommend routine screening colonoscopy at age 50 per
Page 3 of 987
, population guidelines.
D. Order a CT abdomen now before any endoscopic evaluation.
Correct Answer
A
Rationale — Correct (A)
Jarvis stresses pattern recognition in pedigrees; multiple
relatives with early-onset colorectal cancer (<50–55) suggests
hereditary risk (eg, Lynch or familial adenomatous polyposis).
This elevates the patient’s risk and warrants earlier
colonoscopic evaluation and genetic referral rather than
standard population screening.
Rationale — Incorrect
B. Assuming benign hemorrhoids fails to act on red flags: family
history plus guaiac positivity and rectal bleeding.
C. Waiting until 50 ignores earlier family onset and delays
needed diagnostic evaluation.
D. CT abdomen is not the first diagnostic test for suspected
colorectal pathology and may miss mucosal lesions;
colonoscopy is definitive.
Teaching Point
Early-onset cancers in a pedigree prompt earlier diagnostic
screening and genetic referral.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
Page 4 of 987
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
TEST BANK
1
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 32-year-old woman presents for preconception counseling.
She reports a sister with cystic fibrosis (CF) and a family history
of childhood deaths from “lung problems.” Her partner’s history
is negative. A newborn screen in the sister’s generation was not
available. Genetic testing is currently declined by the partner.
What is the most appropriate next step in counseling and
assessment?
Page 1 of 987
,A. Reassure the couple since only one affected sibling exists and
proceed with routine prenatal care.
B. Offer carrier testing to the woman and strongly recommend
partner carrier testing; discuss CF inheritance and residual risk.
C. Recommend immediate invasive prenatal diagnostic testing
(amniocentesis) in the first trimester.
D. Suggest preimplantation genetic diagnosis (PGD) as the only
acceptable option to avoid CF.
Correct Answer
B
Rationale — Correct (B)
Jarvis emphasizes family history and targeted genetic testing for
risk assessment. With a sibling affected by CF (autosomal
recessive), the woman may be a carrier; partner testing
determines couple risk and residual risk. Counseling should
include inheritance, carrier probabilities, and testing options to
support informed decisions and safe prenatal planning.
Rationale — Incorrect
A. False reassurance ignores autosomal recessive inheritance
and leaves reproductive risk unassessed.
C. Amniocentesis is an invasive diagnostic test used after known
parental carrier status or abnormal screening; it is premature
without partner testing.
D. PGD is an option but is not the sole or immediate
recommendation; it is invasive, costly, and requires prior
carrier/embryo information.
Page 2 of 987
,Teaching Point
Test the at-risk partner; carrier testing informs couple’s
reproductive risk and next steps.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
2
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 46-year-old man brings a 3-generation family history: his
father had colorectal cancer at 52, an aunt at 49, and a
grandfather at 70. The patient has mild rectal bleeding but no
weight loss. On exam he has normal vitals and an irregular stool
guaiac test. How should you interpret the family pattern and
prioritize next steps?
A. The family pattern suggests familial colorectal cancer
syndrome; recommend early colonoscopy and refer for genetic
evaluation.
B. The irregular guaiac is likely hemorrhoids; reassure and
repeat the guaiac in six months.
C. Recommend routine screening colonoscopy at age 50 per
Page 3 of 987
, population guidelines.
D. Order a CT abdomen now before any endoscopic evaluation.
Correct Answer
A
Rationale — Correct (A)
Jarvis stresses pattern recognition in pedigrees; multiple
relatives with early-onset colorectal cancer (<50–55) suggests
hereditary risk (eg, Lynch or familial adenomatous polyposis).
This elevates the patient’s risk and warrants earlier
colonoscopic evaluation and genetic referral rather than
standard population screening.
Rationale — Incorrect
B. Assuming benign hemorrhoids fails to act on red flags: family
history plus guaiac positivity and rectal bleeding.
C. Waiting until 50 ignores earlier family onset and delays
needed diagnostic evaluation.
D. CT abdomen is not the first diagnostic test for suspected
colorectal pathology and may miss mucosal lesions;
colonoscopy is definitive.
Teaching Point
Early-onset cancers in a pedigree prompt earlier diagnostic
screening and genetic referral.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
Page 4 of 987
