Chromosomal Abnormalities
Pediatrics · Topic 29
Source: NMC CBME Curriculum 2024 · Volume II · Pediatrics · Topic 29 · combined PDF page 348
Practice questions
- A meta-analysis of fetuses with congenital heart disease reported what pooled proportion for overall chromosomal abnormalities?
- In the cited meta-analysis of fetuses with congenital heart disease, what was the pooled proportion of aneuploidy?
- Which chromosomal finding had a pooled proportion of 2% among fetuses with congenital heart disease in the meta-analysis?
- Compared with isolated congenital heart disease, non-isolated congenital heart disease was associated with what odds ratio for overall chromosomal abnormalities in the meta-analysis?
- Which finding showed the largest reported odds ratio when non-isolated congenital heart disease was compared with isolated congenital heart disease?
- In the meta-analysis, what was the odds ratio for overall chromosomal abnormalities in septal defects compared with conotruncal defects?
- A fetal evaluation identifies congenital heart disease, but karyotyping or FISH is normal. Which additional test did the cited meta-analysis recommend, especially for non-isolated CHD or septal defects?
- What pooled proportion of variants of uncertain significance was reported in fetuses with congenital heart disease?
- A clinician compares the pooled proportions reported for non-isolated and isolated fetal CHD. Which conclusion best matches the meta-analysis?
- A genome-wide NIPT meta-analysis included 740,076 pregnancies and reported 1,738 rare autosomal trisomy-positive results. Approximately what fraction of the total population had a positive result for a rare autosomal trisomy?
- How many studies were included in the systematic review and meta-analysis of genome-wide NIPT for rare chromosomal abnormalities?
- Using the confirmed methodology in the GW-NIPT meta-analysis, which rare autosomal trisomy had the highest rate of true positives?
- Under the extended methodology in the GW-NIPT meta-analysis, which trisomy was among those with the highest rates of true positives?
- Which description best distinguishes the confirmed and extended methods used to classify true-positive rare chromosomal findings in the GW-NIPT review?
- A patient asks for a precise positive predictive value for a rare autosomal trisomy detected by genome-wide NIPT. Which statement is best supported by the cited meta-analysis?
- A GW-NIPT result is positive for a rare autosomal trisomy. Which interpretation is most consistent with the evidence summarized in the meta-analysis?
- The GW-NIPT meta-analysis examined positive results for which two broad classes of rare chromosomal findings?
- In the systematic review of patients with non-obstructive azoospermia and chromosomal abnormalities, which was the most prevalent chromosomal abnormality reported?
- In the meta-analysis of chromosomal abnormalities in non-obstructive azoospermia, what proportion of reported cases involved AZFc microdeletions?
- What overall sperm retrieval rate did the meta-analysis report for patients with Klinefelter syndrome?
- Which sperm retrieval rate was reported for patients with AZFc microdeletions in the meta-analysis?
- A comparison of the pooled sperm retrieval rates in the meta-analysis shows which result?
- Among patients with Klinefelter syndrome undergoing micro-TESE, which factor was a significant predictor of positive sperm retrieval in the meta-analysis?
- Which hormonal finding was associated with favorable sperm retrieval in Klinefelter syndrome patients undergoing micro-TESE or conventional TESE?
- In Klinefelter syndrome patients undergoing testicular sperm aspiration (TESA), which hormonal pattern was associated with positive sperm retrieval in the meta-analysis?
- Which statement best reflects the meta-analysis findings on predictors of sperm retrieval in patients with AZFc microdeletions?