Fig 1.
PRISMA 2020 flowchart representing the study selection process.
Table 1.
Basic characteristics of the included studies.
Fig 2.
Forest plots representing the diagnostic test accuracy of rare trisomies.
A: Forest plot representing the pooled frequency of GW-NIPT positive results for all rare autosomal trisomies (RATs), B: Forest plot representing the PPV with a confirmed method for all RATs, C: Forest plot representing the PPV with an extended method for all RATs, D: Forest plot representing the pooled false positive RAT rate, (Abbreviations: NIPT: non-invasive prenatal test, ALL_RAA: all rare autosomal aneuploidies, Tp: true positive cases, Up: Ultrasound positive cases, Mc: Miscarriage, NA: not available).
Fig 3.
Forest plots representing the diagnostic test accuracy of StrCAs.
A: Forest plot representing the pooled frequency of GW-NIPT positive results for StrCAs, B: Forest plot representing the PPV with a confirmed method for StrCAs, C: Forest plot representing the PPV with an extended method for StrCAs, (Abbreviations: NIPT: non-invasive prenatal test, Tp: true positive cases, Up: Ultrasound positive cases, Mc: Miscarriage, NA: not available).
Fig 4.
Column plot for visualization of the habitat of each chromosome.
A: Column plot representing the pooled frequency of GW-NIPT positive results for all rare autosomal trisomies (RATs), B: Column plot representing the PPV with a confirmed method for all RATs, C: Column plot representing the PPV with an extended method for all RATs, D: Column plot representing the pooled true positive RAT rate, E: Column plot representing the pooled true positive RAT rate. (Abbreviations: NIPT: non-invasive prenatal test, TP: true positive cases, PPV: positive predictive value.
Table 2.
Number of alterations detected.