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Comprehensive Advanced Practice Genetics Nursing Certification
Examination on Hereditary Cancer and Cardiac Risk Assessment,
Pharmacogenomics, Prenatal and Pediatric Genetic Testing,
Ethical Counseling, Variant Interpretation, and Genomic
Healthcare Integration.
Questions 1 – 150
Question 1
A 45-year-old woman with bilateral breast cancer, triple-negative histology, and a family history of ovarian cancer in her sister tests negative for a pathogenic BRCA1/2 variant on standard sequencing. What is the most appropriate next step? A) Reassure the patient that hereditary cancer is ruled out B) Order BRCA1/2 duplication/deletion analysis
C) Recommend multigene panel testing including PALB2, CHEK2, and ATM
D) Proceed with risk-reducing mastectomy without further testing
Correct Answer: C
Rationale: Triple-negative breast cancer and family history of ovarian cancer strongly suggest hereditary predisposition despite negative BRCA1/2 sequencing. Multigene panels capture other moderate/high-risk genes not detected by single-gene tests.
Question 2
A patient undergoing exome sequencing for intellectual disability is found to have a variant of uncertain significance (VUS) in a gene associated with autosomal dominant epilepsy. The parents are unaffected. What is the most appropriate counseling approach? A) Recommend prophylactic antiepileptic therapy B) Interpret the VUS as likely benign due to lack of parental phenotype C) Explain that a VUS cannot be used to guide clinical management at this time D) Report the result as positive for epilepsy risk
Correct Answer: C
Rationale: VUS should not alter clinical management unless reclassified. Family segregation studies
may help, but the VUS alone is insufficient for diagnosis or treatment.
Question 3
In pharmacogenomic testing for clopidogrel, a patient is found to have two loss-of-function CYP2C19 alleles (2/2).
What is the expected clinical effect? A) Increased bleeding risk B) Reduced conversion of clopidogrel to its active metabolite, leading to higher risk of stent thrombosis C) Enhanced antiplatelet effect D) No change in drug metabolism
Correct Answer: B
Rationale: CYP2C19 loss-of-function alleles result in poor metabolizer status, reducing clopidogrel activation and increasing risk for adverse cardiovascular events like stent thrombosis.
Question 4
A couple both test positive for CFTR p.Phe508del heterozygosity. They are planning pregnancy. What is the recurrence
risk for cystic fibrosis in their child? A) 0% B) 25% C) 50% D) 75%
Correct Answer: B
Rationale: Cystic fibrosis follows autosomal recessive inheritance. Two carrier parents have a 25%
chance of an affected child (homozygous pathogenic variant) each pregnancy.
Question 5
A 30-year-old man presents with multiple colonic polyps (>100), congenital hypertrophy of the retinal pigment epithelium (CHRPE), and a family history of desmoid tumors. Which genetic test is most appropriate?
A) MLH1 methylation analysis
B) APC gene sequencing and deletion/duplication analysis
C) MYH (MUTYH) biallelic testing
D) STK11 gene sequencing
Correct Answer: B
Rationale: CHRPE and desmoids are hallmark extracolonic manifestations of familial adenomatous
polyposis (FAP) due to pathogenic APC variants. MYH-associated polyposis lacks CHRPE.
Question 6
A patient undergoes noninvasive prenatal screening (NIPS) for common aneuploidies. The result shows high risk for trisomy 18. What is the next best step? A) Recommend termination of pregnancy based on NIPS B) Offer diagnostic testing via amniocentesis or CVS C) Repeat NIPS in 2 weeks D) Order maternal serum alpha-fetoprotein (MSAFP)
Correct Answer: B
Rationale: NIPS is a screening test, not diagnostic. False positives occur. Confirmatory diagnostic
testing (karyotype or microarray on fetal cells) is required before irreversible decisions.
Question 7
Which of the following inheritance patterns is characterized by male-to-male transmission, absence of male-to-female transmission, and all daughters of an affected male being carriers? A) Autosomal dominant B) Autosomal recessive C) X-linked dominant D) X-linked recessive
Correct Answer: B
Rationale: PARP inhibitors exploit synthetic lethality in BRCA2-deficient tumors. FDA approved for BRCA-mutated metastatic castration-resistant prostate cancer.
Question 12
A couple has a child with spinal muscular atrophy (SMA) type 1 due to homozygous deletion of SMN1 exon 7. The
parents are both carriers. For their next pregnancy, which prenatal test directly detects the fetal SMN1 copy number?
A) Maternal serum PAPP-A B) Quad screen C) MLPA or quantitative PCR on CVS or amniotic fluid D) Noninvasive prenatal screening for SMA
Correct Answer: C
Rationale: MLPA or qPCR quantifies SMN1 exon 7 copies on fetal DNA from invasive sampling. NIPS
for SMA is emerging but not standard diagnostic.
Question 13
What is the primary limitation of direct-to-consumer (DTC) genetic testing for disease risk from a genetics nursing perspective? A) Tests are always inaccurate B) Lack of pre- and post-test counseling and false reassurance or unnecessary anxiety C) DTC tests cannot detect any pathogenic variants D) They are illegal in most states
Correct Answer: B
Rationale: Major concerns include misinterpretation of low-risk variants, absence of professional
counseling, and lack of clinical validation for many SNPs.
Question 14
A patient with hereditary hemochromatosis (homozygous C282Y in HFE ) has ferritin of 1200 ng/mL and transferrin
saturation 85%. What is the first-line management? A) High-dose vitamin C B) Phlebotomy induction therapy C) Oral iron chelation D) Liver biopsy before intervention
Correct Answer: B
Rationale: Phlebotomy removes excess iron. Initiate when ferritin >300 (men) or >200 (women) with elevated saturation. Chelation not first-line in hemochromatosis.
Question 15
A 32-year-old woman has a 5-year-old son with fragile X syndrome (full mutation >200 CGG repeats, abnormal methylation). She is considering another pregnancy. Her FMR1 CGG repeat count is 88. What is her risk of having another affected son? A) <1% B) 50% C) 100% D) 0%
Correct Answer: B
Rationale: Premutation carrier (55- 200 repeats) → risk of expansion to full mutation in offspring, especially when transmitted maternally. Each son has 50% chance of inheriting premutation which may expand.
Question 16
Which ethical principle is most directly challenged when a patient requests not to share genetic test results with at-risk biological relatives despite a highly actionable, preventable condition? A) Beneficence B) Autonomy versus non-maleficence to relatives C) Justice D) Veracity
Correct Answer: B
Rationale: Respect for patient autonomy conflicts with potential harm to relatives who could benefit
from early intervention. Genetic nurses must navigate this tension without breaching confidentiality.
Question 17
A 40-year-old woman with endometrioid ovarian cancer and a family history of Lynch-associated cancers (colon, endometrial) undergoes tumor testing showing MSI-high and loss of MLH1/PMS2 on IHC. Next step?
A) Germline MLH1, MSH2, MSH6, PMS2, EPCAM sequencing
B) BRAF V600E mutation testing
C) MLH1 promoter methylation analysis on tumor
D) Direct referral for prophylactic colectomy
Correct Answer: C
Rationale: Sporadic MLH1 loss due to promoter methylation is common in endometrioid ovarian/endometrial cancer. Methylation excludes germline Lynch syndrome before germline testing.
Question 18
A patient has karyotype 47,XXY. Which clinical finding is most consistent with this diagnosis? A) Tall stature, small testes, gynecomastia, learning disabilities B) Short stature, webbed neck, cubitus valgus C) Normal male phenotype, infertility only D) Severe intellectual disability, microcephaly, rocker-bottom feet
Correct Answer: A
Rationale: Klinefelter syndrome (47,XXY) presents with hypergonadotropic hypogonadism, tall
stature, gynecomastia, small firm testes, and executive function deficits.
Question 19
A newborn has ambiguous genitalia, palpable gonads, and a 46,XY karyotype. Labs show low testosterone and elevated gonadotropins. Which gene variant is most likely?
A) SRY deletion
B) AR (androgen receptor) complete loss-of-function
C) CYP21A2 deletion
D) 5-alpha-reductase type 2 variant
Correct Answer: B
A) No further testing – hereditary cause excluded B) Full sequencing of BRCA1/BRCA2
C) PALB2 and ATM testing
D) Tumor testing for microsatellite instability
Correct Answer: B
Rationale: Founder mutation testing misses non-founder pathogenic variants. Personal pancreatic cancer + family breast cancer meets NCCN criteria for full BRCA1/2 sequencing.
Question 24
In the context of genetic testing for long QT syndrome (LQTS), a patient is found to have a KCNQ1 variant classified as
likely pathogenic. What is the most critical management recommendation? A) Avoidance of QT-prolonging medications and beta-blocker therapy B) Immediate ICD placement C) Restriction from all sports permanently D) No intervention unless symptomatic
Correct Answer: A
Rationale: LQT1 (KCNQ1) responds well to beta-blockers; medication avoidance reduces arrhythmic risk. ICD reserved for high-risk or breakthrough events.
Question 25
A woman with hereditary angioedema due to C1INH variant is pregnant. What is the safest prophylactic treatment
during labor and delivery? A) Attenuated androgens (danazol) B) Fresh frozen plasma C) C1 esterase inhibitor concentrate (pdC1INH or recombinant) D) Tranexamic acid alone
Correct Answer: C
Rationale: C1INH concentrates are safe in pregnancy/breastfeeding and effective for peripartum prophylaxis. Androgens are contraindicated (virilization).
Question 26
A couple has a child with autosomal recessive polycystic kidney disease (ARPKD; PKHD1 ). The mother is pregnant
again. Prenatal ultrasound at 18 weeks shows enlarged hyperechogenic kidneys. What is the most definitive diagnostic test? A) Maternal serum AFP B) Fetal kidney biopsy
C) Targeted PKHD1 mutation analysis on amniotic fluid DNA
D) Repeat ultrasound at 24 weeks
Correct Answer: C
Rationale: Known familial mutations allow direct DNA testing. Ultrasound is suggestive but not
diagnostic; genotype confirmation guides prognosis and perinatal management.
Question 27
A patient with Ehlers-Danlos syndrome, vascular type (EDS type IV, COL3A1 variant), asks about pregnancy risks. The
most accurate counseling point is:
A) Pregnancy is contraindicated due to 50% maternal mortality B) Risk of uterine rupture and arterial dissection during pregnancy/delivery is significantly increased C) Vaginal delivery is safer than C-section D) No increased risk compared to general population
Correct Answer: B
Rationale: Vascular EDS carries high risk of uterine, arterial, and organ rupture in pregnancy. C-section often recommended but still risky. Maternal death rate ~5-12% per pregnancy.
Question 28
A 7-year-old boy presents with developmental regression, loss of purposeful hand movements, ataxia, and microcephaly. The most likely genetic test to order first is:
A) FMR1 CGG repeat analysis
B) MECP2 sequencing
C) CDKL5 deletion analysis
D) Chromosomal microarray
Correct Answer: B
Rationale: Rett syndrome (MECP2 mutations) typically in females, but males with MECP2 mutations
can present with severe encephalopathy and regression. Clinical presentation classic.
Question 29
A patient has a family history of early onset Alzheimer disease (AD) in three generations, with onset before 55 years. Which gene is most likely to harbor a pathogenic variant?
A) APOE ε4 allele
B) PSEN
C) MAPT
D) C9orf
Correct Answer: B
Rationale: Early- onset familial AD (<60 years) is most often due to PSEN1, PSEN2, or APP variants. APOE ε4 is a risk factor, not deterministic.
Question 30
A 28-year-old man presents with hypogonadotropic hypogonadism and anosmia. Genetic testing is most likely to show a variant in:
A) AR
B) KAL1 (ANOS1) or FGFR
C) SRY
D) CYP21A
Correct Answer: B
Rationale: Kallmann syndrome (normosmic? – anosmic) – KAL1 (X-linked) or FGFR1 (autosomal dominant) cause GnRH deficiency + anosmia.
Question 31
A patient is considering predictive testing for Huntington disease. Which baseline assessment is ethically mandatory before testing?
shows vacuoles with glycogen. Which test confirms the most likely diagnosis?
A) DMD deletion analysis
B) GAA gene sequencing (Pompe disease)
C) SMN1 MLPA
D) Mitochondrial DNA sequencing
Correct Answer: B
Rationale: Infantile Pompe disease (glycogen storage disease type II) due to acid alpha-glucosidase
deficiency; confirmed by GAA sequencing. Cardiomegaly + macroglossia = classic.
Question 36
A patient with a personal history of melanoma at age 25 and three or more atypical nevi has a family history of pancreatic cancer in her father. Which gene should be prioritized for testing?
A) BRAF
B) CDKN2A (p16)
C) BAP
D) PTEN
Correct Answer: B
Rationale: CDKN2A germline mutations cause familial atypical multiple mole melanoma (FAMMM)
syndrome with increased risk of pancreatic cancer.
Question 37
In a patient with suspected Lynch syndrome, tumor IHC shows loss of MSH2 and MSH6. Germline testing of MSH2 and MSH6 is negative. What is the next appropriate test?
A) EPCAM deletion analysis
B) MLH1 methylation
C) PMS2 sequencing
D) Repeat IHC
Correct Answer: A
Rationale: EPCAM deletions cause hypermethylation of MSH2 promoter, silencing MSH2. EPCAM
testing is indicated when MSH2 loss without germline MSH2 variant.
Question 38
A couple has a child with osteogenesis imperfecta type II (perinatal lethal) due to a de novo dominant negative variant
in COL1A1. The recurrence risk for future pregnancies is:
A) <1% (germline mosaicism risk) B) 25% C) 50% D) 100%
Correct Answer: A
Rationale: De novo dominant mutations have low recurrence unless parental germline mosaicism (~1-6%). Empiric risk ~1% for osteogenesis imperfecta.
Question 39
A 45-year-old asymptomatic woman with a BRCA1 pathogenic variant undergoes bilateral salpingo-oophorectomy
(BSO) at age 40. She now presents with abdominal bloating, early satiety, and elevated CA-125. What is the most likely diagnosis? A) Ovarian remnant syndrome B) Primary peritoneal carcinoma C) Recurrent ovarian cancer D) Diverticulitis
Correct Answer: B
Rationale: BRCA1 carriers remain at risk for primary peritoneal carcinoma even after BSO (risk ~1-3% over 10- 20 years). Same histology as ovarian cancer.
Question 40
A 14-year-old girl with no personal history of cancer has a father with a pathogenic TP53 variant (Li-Fraumeni
syndrome). She undergoes predictive testing and is found to carry the variant. What is the recommended annual surveillance for breast cancer? A) Mammography starting at age 25 B) Breast MRI starting at age 20-25 (or 5-10 years before earliest family breast cancer) C) Clinical breast exam only D) Mammography and MRI alternating every 6 months starting at age 30
Correct Answer: B
Rationale: NCCN guidelines for Li-Fraumeni: breast MRI starting at age 20-25, annual. Mammography added at age 30. Avoid radiation if possible.
Question 41
A man with hemophilia A (factor VIII deficiency) has a daughter. What is the likelihood that his daughter is a carrier? A) 0% B) 50% C) 100% (obligate carrier) D) 25%
Correct Answer: C
Rationale: X-linked recessive – an affected male passes his X chromosome to all daughters, making
them obligate carriers. Sons receive Y chromosome and are unaffected.
Question 42
A patient has a positive newborn screen for biotinidase deficiency. Confirmatory testing shows profound deficiency (<10% enzyme activity). What is the treatment? A) Low-protein diet B) Biotin supplementation (5-20 mg/day) C) Carnitine D) Gene therapy
Correct Answer: B
Rationale: Profound biotinidase deficiency treated with oral biotin, which is highly effective in
preventing neurological and cutaneous symptoms if started early.
Question 43
maternal short stature and bone pain. The most likely genetic etiology is:
A) PHEX mutation (X-linked hypophosphatemic rickets)
B) VDR mutation
C) CYP27B1 mutation
D) FGF23 overexpression tumor
Correct Answer: A
Rationale: X- linked dominant hypophosphatemic rickets due to PHEX mutations → elevated FGF23 → renal phosphate wasting. Family history consistent with X-linked transmission.
Question 48
A patient with hereditary spherocytosis is found to have a variant in ANK1. What is the inheritance pattern?
A) Autosomal dominant B) Autosomal recessive C) X-linked recessive D) Mitochondrial
Correct Answer: A
Rationale: ANK1 mutations cause autosomal dominant hereditary spherocytosis (most common).
Some forms (SPTB) can be recessive or dominant.
Question 49
Which of the following is a key component of informed consent for genetic testing that differs from general medical consent? A) Discussion of treatment risks B) Potential for incidental findings, VUS, and implications for relatives C) Anesthesia risks D) Cost of the test only
Correct Answer: B
Rationale: Unique to genetic testing: results may reveal non-paternity, unexpected disease risks,
impact family members, and uncertain VUS.
Question 50
A patient with polycythemia vera undergoes JAK2 V617F testing. What is the expected result? A) Negative in 95% of patients B) Positive in ~95% of patients with polycythemia vera C) Only positive in secondary polycythemia D) Positive only if thrombocytosis present
Correct Answer: B
Rationale: JAK2 V617F is found in 95% of polycythemia vera cases, also in essential thrombocythemia
and primary myelofibrosis.
Question 51
A couple is referred for recurrent pregnancy loss (three first-trimester miscarriages). Parental karyotypes are normal. Products of conception from the third loss are analyzed by microarray and show a de novo 16p13.11 microdeletion. What is the recurrence risk?
A) <1% (assuming parental germline is negative) B) 25% C) 50% D) 100%
Correct Answer: A
Rationale: De novo copy number variants in a single miscarriage confer low recurrence risk. Parental
karyotype normal rules out balanced translocation.
Question 52
A woman with a BRCA2 pathogenic variant undergoes oocyte cryopreservation before risk-reducing salpingo-
oophorectomy. What is the primary goal of this intervention? A) To reduce breast cancer risk B) To preserve fertility C) To prevent ovarian cancer D) To improve cardiovascular health
Correct Answer: B
Rationale: BSO causes menopause and infertility. Oocyte/embryo cryopreservation before BSO
preserves fertility for future pregnancy via surrogacy or partner.
Question 53
A 50-year-old man with hereditary nonpolyposis colorectal cancer (Lynch syndrome, MSH2 variant) has had a
colonoscopy every 1-2 years since age 25. What additional cancer surveillance is most critical for his specific gene? A) Upper endoscopy every 2-3 years B) Annual prostate MRI C) Annual urinalysis with cytology (upper tract urothelial cancer) D) Annual CA- 125
Correct Answer: C
Rationale: MSH2 carriers have very high risk of upper tract urothelial carcinoma (renal pelvis, ureter).
Urine cytology and imaging recommended.
Question 54
A patient with neurofibromatosis type 2 (NF2) presents with bilateral vestibular schwannomas. What is the inheritance pattern? A) Autosomal dominant with complete penetrance B) Autosomal recessive C) X-linked dominant D) Mosaic only
Correct Answer: A
Rationale: NF2 is autosomal dominant with >95% penetrance by age 60. However, ~50% of cases are
de novo.
Question 55
Which of the following pharmacogenetic associations is most clinically actionable to avoid life-threatening toxicity?
A) CYP2D6 ultrarapid metabolizer and codeine (risk of morphine toxicity)
B) Continue same dose, add ursodiol C) Reduce dose or interrupt until LFTs improve, then restart D) Add prednisone
Correct Answer: C
Rationale: Elevations >3-5x ULN require dose interruption or reduction per prescribing info. Restart when levels improve. Permanent discontinuation only if severe.
Question 60
Which test is the first-tier diagnostic tool for suspected 22q11.2 deletion syndrome (DiGeorge) in a neonate with hypocalcemia, conotruncal cardiac defect, and absent thymus? A) Karyotype B) Fluorescence in situ hybridization (FISH) for 22q11. C) Chromosomal microarray D) Whole exome sequencing
Correct Answer: B
Rationale: FISH for 22q11.2 is rapid and specific. Microarray also detects it but may take longer. FISH is traditional first-tier, though microarray is equally good.
Question 61
A 35-year-old woman with acute intermittent porphyria (AIP) and a known HMBS variant presents with severe
abdominal pain, hypertension, and hyponatremia. Which medication is most likely to have triggered this attack? A) Acetaminophen B) Phenobarbital (recently prescribed for seizures) C) Aspirin D) Amoxicillin
Correct Answer: B
Rationale: Phenobarbital and other CYP450 inducers (phenytoin, carbamazepine, rifampin) are potent
triggers of AIP attacks by inducing hepatic ALAS1.
Question 62
A man with hemochromatosis (C282Y homozygous) who underwent phlebotomy to achieve ferritin <50 ng/mL now asks about maintenance therapy. What is recommended? A) Lifelong monthly phlebotomy B) Phlebotomy every 3-4 months to keep ferritin <50- 100 C) No further phlebotomy, monitor ferritin annually D) Oral deferasirox
Correct Answer: B
Rationale: After iron depletion, maintenance phlebotomy every 2-4 months prevents reaccumulation. Goal ferritin <100 (some suggest <50).
Question 63
A 3-month-old infant presents with failure to thrive, hepatomegaly, cataracts, and hypotonia. Newborn screening suggests galactosemia. Confirmatory testing reveals absent galactose- 1 - phosphate uridyltransferase (GALT) activity. Immediate dietary management includes: A) Lactose-free but galactose-containing formula B) Soy-based formula (contains galactose)
C) Galactose- restricted diet (no breast milk, cow’s milk, or lactose - containing formula) D) No change – it resolves spontaneously
Correct Answer: C
Rationale: Classic galactosemia requires strict elimination of galactose, including all dairy and breast
milk. Elemental formulas (e.g., Prosobee is soy – still galactose? Actually soy has galactose, so need
galactose-free formula like Nutramigen).
Question 64
A couple has two children with primary carnitine deficiency due to biallelic SLC22A5 variants. The mother is pregnant.
If the fetus is affected, what is the most critical postnatal intervention? A) Liver transplant B) Carnitine supplementation (100-400 mg/kg/day) C) Low-fat diet D) Medium-chain triglyceride (MCT) oil
Correct Answer: B
Rationale: Primary carnitine deficiency responds dramatically to high-dose oral carnitine, preventing
cardiomyopathy and hypoglycemia.
Question 65
A 65-year-old woman with hereditary hemorrhagic telangiectasia (HHT) and a ACVRL1 variant presents with dyspnea,
hypoxemia, and a right-to-left shunt on bubble echocardiography. What is the first-line therapy for pulmonary AVMs? A) Watchful waiting B) Antiangiogenic therapy (bevacizumab) C) Embolization (coil/plug) D) Surgical lobectomy
Correct Answer: C
Rationale: Embolization of feeding arteries reduces risk of paradoxical embolism and brain abscess.
Indicated for treatable AVMs >3mm feeding vessel.
Question 66
A 60-year-old man with a MUTYH biallelic variant (associated with MUTYH-associated polyposis) has had 5 adenomas
removed at age 55, now 2 more at age 60. What is the recommended surveillance interval? A) No further surveillance B) Colonoscopy every 1-2 years C) Colonoscopy every 5 years D) Colectomy
Correct Answer: B
Rationale: MAP patients have high colorectal cancer risk; guidelines recommend colonoscopy every 1-2 years beginning at age 25-30, continuing lifelong.
Question 67
A 28-year-old woman with a family history of hypertrophic cardiomyopathy (HCM) and sudden death in her father
(unknown genotype) undergoes genetic testing that reveals a VUS in MYH7. She is asymptomatic. What should the
nurse recommend?
B) Tay-Sachs disease (GM2 gangliosidosis) C) Niemann-Pick type A D) Mucopolysaccharidosis type I
Correct Answer: B
Rationale: Tay-Sachs presents with cherry-red spot, neurodegeneration, and organomegaly. HEXA deficiency. Gaucher type 2 has no cherry-red spot.
Question 72
A patient has a pathogenic variant in RYR1 and is scheduled for general anesthesia with succinylcholine. What is the
primary risk? A) Prolonged paralysis B) Malignant hyperthermia susceptibility C) Anaphylaxis D) Postoperative nausea
Correct Answer: B
Rationale: RYR1 mutations cause malignant hyperthermia susceptibility – triggered by volatile
anesthetics and succinylcholine → hypermetabolic state, rigidity, hyperthermia.
Question 73
A 40-year-old asymptomatic man with a pathogenic variant in LDLR (familial hypercholesterolemia) has LDL
cholesterol of 210 mg/dL despite high-dose statin. What is the next best therapy? A) Double statin dose B) Add ezetimibe then consider PCSK9 inhibitor C) Niacin D) Bile acid sequestrant
Correct Answer: B
Rationale: Stepwise: statin + ezetimibe → PCSK9 inhibitor if LDL still >100 (or > 70 with other risk factors). PCSK9i highly effective in HeFH.
Question 74
A woman with a known FBN1 pathogenic variant (Marfan syndrome) is pregnant. What is the most significant
maternal risk? A) Placental abruption B) Aortic dissection (especially in third trimester and peripartum) C) Preeclampsia D) Gestational diabetes
Correct Answer: B
Rationale: Aortic root dilatation risk of dissection increases dramatically in pregnancy due to
hemodynamic/hormonal changes. Prophylactic beta-blockers and planned C-section.
Question 75
A 20-year-old man with progressive ataxia, areflexia, extensor plantar responses, and vibration loss in lower extremities. He has scoliosis and hammer toes. Genetic testing most likely shows:
A) FXN GAA triplet repeat expansion (Friedreich ataxia)
B) ATXN1 CAG repeat
C) CACNA1A variant
D) SPG4 variant
Correct Answer: A
Rationale: Friedreich ataxia – autosomal recessive, GAA expansion in FXN. Scoliosis, cardiomyopathy,
diabetes, areflexia, sensory loss, positive Babinski.
Question 76
A patient is diagnosed with 46,XY complete gonadal dysgenesis (Swyer syndrome). Which finding is expected? A) Female external genitalia, streak gonads, uterus present B) Male external genitalia, cryptorchidism C) Ambiguous genitalia, mixed gonadal dysgenesis D) Normal male phenotype, infertility only
Correct Answer: A
Rationale: Swyer syndrome: 46,XY with non- functioning testes, no testosterone/AMH → female external genitalia, Mullerian structures (uterus, tubes), streak gonads → risk of gonadoblastoma.
Question 77
A 32-year-old woman with a BRCA1 variant develops breast cancer at age 30 and receives adjuvant chemotherapy
(anthracycline + taxane). She asks about risk of therapy-related acute myeloid leukemia (t-AML). Which factor increases her risk? A) BRCA1 itself increases t-AML risk B) Cumulative doxorubicin dose >300 mg/m C) BRCA1 does not increase t-AML; risk from topoisomerase II inhibitors (doxorubicin) D) BRCA1 carriers should never receive chemotherapy
Correct Answer: C
Rationale: BRCA1 carriers do not have inherently higher t-AML risk than non-carriers; t-AML is from topoisomerase II inhibitors and alkylators. But risk exists in all.
Question 78
A newborn with a positive newborn screen for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is confirmed by molecular testing. The most critical immediate intervention is: A) High-fat, low-carbohydrate diet B) Avoid fasting, frequent feeding with medium-chain triglycerides (MCT) oil, and IV dextrose if ill C) L-carnitine supplementation only D) Liver transplant evaluation
Correct Answer: B
Rationale: VLCADD management: avoid fasting, frequent feeding, MCT oil (bypass VLCAD), IV
dextrose during illness to prevent hypoketotic hypoglycemia and cardiomyopathy.
Question 79
A patient with neurofibromatosis type 1 (NF1) develops a blood pressure of 160/100 mmHg at age 12. What is the most likely cause? A) Essential hypertension B) Renal artery stenosis (due to NF1 vasculopathy) C) Pheochromocytoma
