Introduction to the nervous system
Anatomy · Topic 7
Source: NMC CBME Curriculum 2024 · Volume I · Anatomy · Topic 7 · combined PDF page 110
Practice questions
- In the retrospective cohort of 219 fetuses with imaging-detected CNS anomalies, how many had pathogenic or likely pathogenic single-nucleotide variants identified by exome sequencing (ES)?
- What pooled diagnostic yield for prenatal ES in fetal CNS anomalies was reported by the systematic review and meta-analysis?
- Within the 219-case cohort, which phenotype group had the highest reported ES diagnostic yield among the following groups?
- In the cohort, what was the reported ES diagnostic yield for isolated CNS anomalies?
- In the cohort, which isolated CNS anomaly was reported as the most commonly identified isolated anomaly, with a 31% ES diagnostic yield?
- For neural tube defects accompanied by urogenital anomalies, what ES diagnostic yield did the 219-case cohort report?
- In the meta-analysis, how did ES diagnostic yield differ between fetuses with three or more CNS abnormalities and those with only two?
- The meta-analysis reported an ES yield of 43% for fetuses with three or more CNS abnormalities. Which confidence interval was reported for this subgroup?
- Which comparison of imaging modalities is consistent with the meta-analysis findings on ES diagnostic yield?
- Which statement best describes the molecular findings counted in the 219-case cohort's ES result?
- The meta-analysis reported an 80% ES diagnostic yield for which phenotype combination?
- A report quotes a 75% ES diagnostic yield for a phenotype subgroup in the meta-analysis. Which subgroup and numerator/denominator correspond to that result?
- Which interpretation of the study's 27% pooled ES diagnostic yield is most appropriate?