Test Bank For Genetics, Newborn Screening, and Inborn Errors of Metabolism, An
Issue of Clinics in Perinatology, 1st Edition
Authors: Patrick K. Gallagher,Alex R. Kemper
,Newborn Screening: Advances, Challenges, and Future Directions
Theory-Based Questions (1–15)
1. A primary goal of newborn screening (NBS) programs is to:
A. Diagnose all congenital disorders definitively
B. Identify asymptomatic infants at risk for treatable disorders before irreversible injury
occurs
C. Replace prenatal genetic testing
D. Detect only chromosomal abnormalities
Correct Answer: B
2. Which characteristic is MOST appropriate for inclusion in a population-based newborn
screening program?
A. Rare untreatable disease with late adult onset
B. Disorder with reliable early detection and effective intervention
C. Condition diagnosed only by invasive biopsy
D. Disease with highly variable laboratory markers and no treatment
Correct Answer: B
3. Tandem mass spectrometry (MS/MS) primarily improves newborn screening by:
A. Replacing DNA analysis entirely
B. Simultaneously detecting multiple metabolic analytes from a single dried blood spot
C. Diagnosing chromosomal aneuploidy
D. Eliminating false-positive results
Correct Answer: B
4. In newborn screening, sensitivity refers to:
A. Probability that unaffected infants test negative
B. Ability of a screening test to correctly identify affected infants
C. Likelihood that a positive screen confirms disease
D. Frequency of false-positive results
Correct Answer: B
5. A false-negative newborn screening result may occur because:
A. The infant was screened too early before metabolite accumulation
B. All metabolic disorders are detectable immediately after birth
,C. Genetic testing has 100% sensitivity
D. Tandem mass spectrometry measures enzyme activity directly in all disorders
Correct Answer: A
6. Which inheritance pattern is MOST commonly associated with inborn errors of
metabolism detected through newborn screening?
A. Autosomal dominant
B. X-linked dominant
C. Autosomal recessive
D. Mitochondrial inheritance exclusively
Correct Answer: C
7. Phenylketonuria (PKU) causes neurologic injury primarily because of:
A. Deficiency of galactose-1-phosphate uridyltransferase
B. Toxic accumulation of phenylalanine affecting brain development
C. Excess thyroid hormone production
D. Iron deposition in neurons
Correct Answer: B
8. Which statement best distinguishes screening from diagnostic testing?
A. Screening confirms disease presence definitively
B. Diagnostic testing is performed only prenatally
C. Screening identifies individuals at increased risk who require confirmatory testing
D. Screening has higher specificity than diagnostic testing in all cases
Correct Answer: C
9. Whole-genome sequencing in newborn screening faces challenges primarily related to:
A. Inability to identify any pathogenic variants
B. Ethical concerns, uncertain variant interpretation, and incidental findings
C. Lack of DNA extraction methods
D. Inability to detect recessive conditions
Correct Answer: B
10. Pulse oximetry screening for critical congenital heart disease (CCHD) is valuable
because:
A. All affected infants are clinically cyanotic at birth
B. Some infants appear asymptomatic before cardiovascular collapse
, C. It replaces echocardiography entirely
D. It diagnoses chromosomal syndromes directly
Correct Answer: B
11. Which factor most strongly affects positive predictive value (PPV) in newborn
screening?
A. Disease prevalence
B. Infant sex only
C. Blood spot card color
D. Maternal age exclusively
Correct Answer: A
12. A variant of uncertain significance (VUS) identified on genomic sequencing means:
A. The variant definitely causes disease
B. The variant is definitely benign
C. Current evidence is insufficient to determine pathogenicity
D. The infant is unaffected
Correct Answer: C
13. Which screened disorder commonly requires dietary protein restriction as treatment?
A. Congenital hypothyroidism
B. PKU
C. Congenital CMV
D. CCHD
Correct Answer: B
14. Congenital hypothyroidism screening is important primarily because untreated disease
may lead to:
A. Acute liver failure in the first week
B. Severe neurodevelopmental impairment
C. Hemolytic crisis
D. Hyperammonemia
Correct Answer: B
15. The dried blood spot specimen used in newborn screening is typically collected:
A. Immediately after delivery before feeding
B. After physiologic metabolic adaptation, generally at 24–48 hours of life
Issue of Clinics in Perinatology, 1st Edition
Authors: Patrick K. Gallagher,Alex R. Kemper
,Newborn Screening: Advances, Challenges, and Future Directions
Theory-Based Questions (1–15)
1. A primary goal of newborn screening (NBS) programs is to:
A. Diagnose all congenital disorders definitively
B. Identify asymptomatic infants at risk for treatable disorders before irreversible injury
occurs
C. Replace prenatal genetic testing
D. Detect only chromosomal abnormalities
Correct Answer: B
2. Which characteristic is MOST appropriate for inclusion in a population-based newborn
screening program?
A. Rare untreatable disease with late adult onset
B. Disorder with reliable early detection and effective intervention
C. Condition diagnosed only by invasive biopsy
D. Disease with highly variable laboratory markers and no treatment
Correct Answer: B
3. Tandem mass spectrometry (MS/MS) primarily improves newborn screening by:
A. Replacing DNA analysis entirely
B. Simultaneously detecting multiple metabolic analytes from a single dried blood spot
C. Diagnosing chromosomal aneuploidy
D. Eliminating false-positive results
Correct Answer: B
4. In newborn screening, sensitivity refers to:
A. Probability that unaffected infants test negative
B. Ability of a screening test to correctly identify affected infants
C. Likelihood that a positive screen confirms disease
D. Frequency of false-positive results
Correct Answer: B
5. A false-negative newborn screening result may occur because:
A. The infant was screened too early before metabolite accumulation
B. All metabolic disorders are detectable immediately after birth
,C. Genetic testing has 100% sensitivity
D. Tandem mass spectrometry measures enzyme activity directly in all disorders
Correct Answer: A
6. Which inheritance pattern is MOST commonly associated with inborn errors of
metabolism detected through newborn screening?
A. Autosomal dominant
B. X-linked dominant
C. Autosomal recessive
D. Mitochondrial inheritance exclusively
Correct Answer: C
7. Phenylketonuria (PKU) causes neurologic injury primarily because of:
A. Deficiency of galactose-1-phosphate uridyltransferase
B. Toxic accumulation of phenylalanine affecting brain development
C. Excess thyroid hormone production
D. Iron deposition in neurons
Correct Answer: B
8. Which statement best distinguishes screening from diagnostic testing?
A. Screening confirms disease presence definitively
B. Diagnostic testing is performed only prenatally
C. Screening identifies individuals at increased risk who require confirmatory testing
D. Screening has higher specificity than diagnostic testing in all cases
Correct Answer: C
9. Whole-genome sequencing in newborn screening faces challenges primarily related to:
A. Inability to identify any pathogenic variants
B. Ethical concerns, uncertain variant interpretation, and incidental findings
C. Lack of DNA extraction methods
D. Inability to detect recessive conditions
Correct Answer: B
10. Pulse oximetry screening for critical congenital heart disease (CCHD) is valuable
because:
A. All affected infants are clinically cyanotic at birth
B. Some infants appear asymptomatic before cardiovascular collapse
, C. It replaces echocardiography entirely
D. It diagnoses chromosomal syndromes directly
Correct Answer: B
11. Which factor most strongly affects positive predictive value (PPV) in newborn
screening?
A. Disease prevalence
B. Infant sex only
C. Blood spot card color
D. Maternal age exclusively
Correct Answer: A
12. A variant of uncertain significance (VUS) identified on genomic sequencing means:
A. The variant definitely causes disease
B. The variant is definitely benign
C. Current evidence is insufficient to determine pathogenicity
D. The infant is unaffected
Correct Answer: C
13. Which screened disorder commonly requires dietary protein restriction as treatment?
A. Congenital hypothyroidism
B. PKU
C. Congenital CMV
D. CCHD
Correct Answer: B
14. Congenital hypothyroidism screening is important primarily because untreated disease
may lead to:
A. Acute liver failure in the first week
B. Severe neurodevelopmental impairment
C. Hemolytic crisis
D. Hyperammonemia
Correct Answer: B
15. The dried blood spot specimen used in newborn screening is typically collected:
A. Immediately after delivery before feeding
B. After physiologic metabolic adaptation, generally at 24–48 hours of life
