Donat et al. () Level III-2: N=30 patients with CBAVD Inclusion criteria: All patients were tested for 14 CFTR gene Clinical diagnosis of mutations using a single-tube PCR multiplex CBAVD was made if the UK A comparison with Patients with CBAVD system with restriction enzyme analysis. semen analysis confirmed reference standard (not presenting consecutively to azoospermia, the volume blinded or blinding not the Edinburgh infertility clinic was low (<2 mL), the pH known) was low (<7), the vasa were Quality: good with a low impalpable and the testes risk of bias were otherwise normal. Durieu et al. Level III-2: N=14 CBAVD patients Inclusion criteria: PCR amplification with restriction enzyme or The clinical diagnosis of () heteroduplex analysis CBAVD was made on A comparison with Patients were consecutively azoospermia with normal or France reference standard (not included between December slightly smaller sized testes, blinded or blinding not 1992 and July 1993 non-palpable vas deferens, known) and small volume and low Quality: good with a low pH ejaculate. risk of bias Edelmann et Level IV: N=507 patients’ samples Not reported CF testing was initially performed by multiplex No reference standard referred for CF screening, al. () PCR followed by ASOH. A study of diagnostic 12 proficiency samples USA yield (no reference Then samples were tested with eMAP standard) BeadChip assay, which combines multiplex amplification of genomic DNA and multiplex Quality: poor with a high detection of mutations and polymorphisms risk of bias using ASOs with variable 3'-terminal sequences displayed on colour-encoded beads that are assembled into random arrays on semiconductor chips. Single-stranded PCR products are annealed to the bead-displayed ASOs and rendered visible by incorporation of a fluorescently labelled nucleotide analogue.
Donat et al. () UK Level III-2: A comparison with reference standard (not blinded or blinding not known) Quality: good with a low risk of bias N=30 patients with CBAVD Inclusion criteria: Patients with CBAVD presenting consecutively to the Edinburgh infertility clinic All patients were tested for 14 CFTR gene mutations using a single-tube PCR multiplex system with restriction enzyme analysis. Clinical diagnosis of CBAVD was made if the semen analysis confirmed azoospermia, the volume was low (<2 mL), the pH was low (<7), the vasa were impalpable and the testes were otherwise normal. Durieu et al. () France Level III-2: A comparison with reference standard (not blinded or blinding not known) Quality: good with a low risk of bias N=14 CBAVD patients Inclusion criteria: Patients were consecutively included between December 1992 and July 1993 PCR amplification with restriction enzyme or heteroduplex analysis The clinical diagnosis of CBAVD was made on azoospermia with normal or slightly smaller sized testes, non-palpable vas deferens, and small volume and low pH ejaculate. Edelmann et al. () USA Level IV: A study of diagnostic yield (no reference standard) Quality: poor with a high risk of bias N=507 patients’ samples referred for CF screening, 12 proficiency samples Not reported CF testing was initially performed by multiplex PCR followed by ASOH. Then samples were tested with eMAP BeadChip assay, which combines multiplex amplification of genomic DNA and multiplex detection of mutations and polymorphisms using ASOs with variable 3'-terminal sequences displayed on colour-encoded beads that are assembled into random arrays on semiconductor chips. Single-stranded PCR products are annealed to the bead-displayed ASOs and rendered visible by incorporation of a fluorescently labelled nucleotide analogue. No reference standard