HESI CONGENITAL DISORDERS
EXAM (2026 Update)|| Questions And
Answers With Rationales/Graded
A+/2026 Update/100% Correct
/Instant
downloadSection 1: Chromosomal Disorders (Questions 1–15)
1. A newborn is diagnosed with trisomy 21. Which assessment finding is most
consistent with this disorder?
• A) Large, low-set ears and micrognathia
• B) Single palmar crease and hypotonia
• C) Upward slanting palpebral fissures and a single palmar crease
• D) Cleft lip and palate with polydactyly
Rationale: Trisomy 21 (Down syndrome) presents with upslanting palpebral
fissures, single palmar crease, hypotonia, flat nasal bridge, and protruding
tongue. Options A and D suggest other syndromes (e.g., trisomy 18, 13).
2. A nurse is caring for an infant with a karyotype showing 47,XX,+18. Which
findings should the nurse expect?
• A) Rocker-bottom feet, overlapping fingers, and severe intellectual
disability
• B) Short stature, webbed neck, and shield chest
• C) Large tongue, umbilical hernia, and simian crease
• D) Hypercalcemia, dysmorphic facies, and cardiac defects
Rationale: 47,XX,+18 indicates Edwards syndrome (trisomy 18). Key
features include rocker-bottom feet, overlapping fingers, low-set ears,
micrognathia, and heart defects.
,3. A couple’s first child had a neural tube defect. The nurse advises folic acid
supplementation for future pregnancies at what dose?
• A) 0.4 mg/day
• B) 4 mg/day
• C) 1 mg/day
• D) 10 mg/day
Rationale: For women with a prior child with a neural tube defect, the CDC
recommends high-dose folic acid (4 mg/day) starting at least 1 month before
conception.
4. A newborn has microcephaly, microphthalmia, cleft lip/palate, and
polydactyly. Which chromosomal disorder is most likely?
• A) Trisomy 21
• B) Turner syndrome
• C) Trisomy 13 (Patau syndrome)
• D) Klinefelter syndrome
Rationale: Trisomy 13 is associated with severe midline defects, including
microcephaly, microphthalmia, holoprosencephaly, cleft lip/palate, and
polydactyly.
5. A 16-year-old girl has short stature, webbed neck, and no secondary sexual
characteristics. Which diagnostic test is definitive for suspected Turner
syndrome?
• A) Karyotype (45,XO)
• B) Serum estrogen level
• C) Pelvic ultrasound
• D) Bone age X-ray
Rationale: Turner syndrome is diagnosed by karyotype (monosomy X).
Physical features include short stature, webbed neck, low hairline, and
gonadal dysgenesis.
6. Which congenital disorder is associated with a higher risk of developing
leukemia during childhood?
, • A) Turner syndrome
• B) Down syndrome (Trisomy 21)
• C) Edward syndrome
• D) Fragile X syndrome
Rationale: Children with Down syndrome have a 10–20x increased risk of
acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML).
7. A father has a balanced translocation involving chromosome 21. What is the
recurrence risk for Down syndrome in his offspring?
• A) <1%
• B) 5%
• C) 10–15%
• D) 50%
Rationale: If the father is a carrier of a balanced Robertsonian translocation,
recurrence risk is ~10–15%; if the mother is the carrier, risk is higher (~15–
20%). This differs from the 1% risk for standard trisomy 21.
8. A newborn male has hypotonia, cryptorchidism, and a small phallus. Initial
lab shows low testosterone. What is the priority diagnostic test?
• A) Karyotype (47,XXy)
• B) 17-hydroxyprogesterone level
• C) Gonadotropin levels
• D) Testicular ultrasound
Rationale: Klinefelter syndrome (47,XXY) presents with
hypergonadotropic hypogonadism, small testes, gynecomastia, and tall
stature. Karyotype confirms diagnosis.
9. Which prenatal screening test measures nuchal translucency and serum
analytes?
• A) Amniocentesis
• B) First-trimester combined screening
• C) Quad screen
EXAM (2026 Update)|| Questions And
Answers With Rationales/Graded
A+/2026 Update/100% Correct
/Instant
downloadSection 1: Chromosomal Disorders (Questions 1–15)
1. A newborn is diagnosed with trisomy 21. Which assessment finding is most
consistent with this disorder?
• A) Large, low-set ears and micrognathia
• B) Single palmar crease and hypotonia
• C) Upward slanting palpebral fissures and a single palmar crease
• D) Cleft lip and palate with polydactyly
Rationale: Trisomy 21 (Down syndrome) presents with upslanting palpebral
fissures, single palmar crease, hypotonia, flat nasal bridge, and protruding
tongue. Options A and D suggest other syndromes (e.g., trisomy 18, 13).
2. A nurse is caring for an infant with a karyotype showing 47,XX,+18. Which
findings should the nurse expect?
• A) Rocker-bottom feet, overlapping fingers, and severe intellectual
disability
• B) Short stature, webbed neck, and shield chest
• C) Large tongue, umbilical hernia, and simian crease
• D) Hypercalcemia, dysmorphic facies, and cardiac defects
Rationale: 47,XX,+18 indicates Edwards syndrome (trisomy 18). Key
features include rocker-bottom feet, overlapping fingers, low-set ears,
micrognathia, and heart defects.
,3. A couple’s first child had a neural tube defect. The nurse advises folic acid
supplementation for future pregnancies at what dose?
• A) 0.4 mg/day
• B) 4 mg/day
• C) 1 mg/day
• D) 10 mg/day
Rationale: For women with a prior child with a neural tube defect, the CDC
recommends high-dose folic acid (4 mg/day) starting at least 1 month before
conception.
4. A newborn has microcephaly, microphthalmia, cleft lip/palate, and
polydactyly. Which chromosomal disorder is most likely?
• A) Trisomy 21
• B) Turner syndrome
• C) Trisomy 13 (Patau syndrome)
• D) Klinefelter syndrome
Rationale: Trisomy 13 is associated with severe midline defects, including
microcephaly, microphthalmia, holoprosencephaly, cleft lip/palate, and
polydactyly.
5. A 16-year-old girl has short stature, webbed neck, and no secondary sexual
characteristics. Which diagnostic test is definitive for suspected Turner
syndrome?
• A) Karyotype (45,XO)
• B) Serum estrogen level
• C) Pelvic ultrasound
• D) Bone age X-ray
Rationale: Turner syndrome is diagnosed by karyotype (monosomy X).
Physical features include short stature, webbed neck, low hairline, and
gonadal dysgenesis.
6. Which congenital disorder is associated with a higher risk of developing
leukemia during childhood?
, • A) Turner syndrome
• B) Down syndrome (Trisomy 21)
• C) Edward syndrome
• D) Fragile X syndrome
Rationale: Children with Down syndrome have a 10–20x increased risk of
acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML).
7. A father has a balanced translocation involving chromosome 21. What is the
recurrence risk for Down syndrome in his offspring?
• A) <1%
• B) 5%
• C) 10–15%
• D) 50%
Rationale: If the father is a carrier of a balanced Robertsonian translocation,
recurrence risk is ~10–15%; if the mother is the carrier, risk is higher (~15–
20%). This differs from the 1% risk for standard trisomy 21.
8. A newborn male has hypotonia, cryptorchidism, and a small phallus. Initial
lab shows low testosterone. What is the priority diagnostic test?
• A) Karyotype (47,XXy)
• B) 17-hydroxyprogesterone level
• C) Gonadotropin levels
• D) Testicular ultrasound
Rationale: Klinefelter syndrome (47,XXY) presents with
hypergonadotropic hypogonadism, small testes, gynecomastia, and tall
stature. Karyotype confirms diagnosis.
9. Which prenatal screening test measures nuchal translucency and serum
analytes?
• A) Amniocentesis
• B) First-trimester combined screening
• C) Quad screen
