Castaldo et Level IV: N=32 fetal samples Inclusion criteria: An ASOH dot-blot semi-automated procedure No reference standard collected through CVS from using a panel of 13 CF mutations was used on al. (2000) A study of diagnostic Pregnant couples were high-risk couples (1 all the CF families. Italy yield (no reference identified during a CF-carrier dizygotic twin pregnancy) standard) screening study and offered When no mutations were detected, STR prenatal screening; 32/33 genotyping of intragenic polymorphisms by Quality: good with a low couples gave informed PCR and gel electrophoresis was followed by risk of bias consent for prenatal testing. extragenic polymorphisms by PCR and restriction enzyme analysis. Collazo et al. N=61 fetal samples Level III-2: Inclusion criteria: ARMS to detect F508del, G542X and R1162X Clinical diagnosis at birth () collected through A comparison with Couples with some risk of PCR-based restriction enzyme analysis to amniocentesis from couples Cuba reference standard (not having children affected by detect R334W, R553X and 3120+1G>A with some risk of having blinded or blinding not CF, referred from all parts of children affected by CF known) Cuba during 1988—2011 Quality: good with a low risk of bias Danziger et N=16 male patients with Prospectively selected A detailed history and Level III-2: mTTGE and DNA sequencing al. () CAVD (n=13 with CBAVD infertile men attending the physical examination was A comparison with The Ambry CF Test includes a full mutation and n=1 CUAVD) or with male infertility clinic over a performed on all patients by USA reference standard (not scan of all CFTR exons as well as relevant idiopathic epididymal period who were an experienced urologist. blinded or blinding not intronic regions by mTTGE analysis followed by obstruction (n=2) diagnosed with obstructive The diagnosis of CAVD or known) DNA sequencing of suspect regions. azoospermia idiopathic obstruction was Quality: good with a low based on physical Inclusion criteria: risk of bias examination findings. (i) new diagnosis with no prior genotyping (ii) members of an ethnic group with an assumed low detection rate by common mutation panel
Castaldo et al. (2000) Italy Level IV: A study of diagnostic yield (no reference standard) Quality: good with a low risk of bias N=32 fetal samples collected through CVS from high-risk couples (1 dizygotic twin pregnancy) Inclusion criteria: Pregnant couples were identified during a CF-carrier screening study and offered prenatal screening; 32/33 couples gave informed consent for prenatal testing. An ASOH dot-blot semi-automated procedure using a panel of 13 CF mutations was used on all the CF families. When no mutations were detected, STR genotyping of intragenic polymorphisms by PCR and gel electrophoresis was followed by extragenic polymorphisms by PCR and restriction enzyme analysis. No reference standard Collazo et al. () Cuba Level III-2: A comparison with reference standard (not blinded or blinding not known) Quality: good with a low risk of bias N=61 fetal samples collected through amniocentesis from couples with some risk of having children affected by CF Inclusion criteria: Couples with some risk of having children affected by CF, referred from all parts of Cuba during 1988—2011 ARMS to detect F508del, G542X and R1162X PCR-based restriction enzyme analysis to detect R334W, R553X and 3120+1G>A Clinical diagnosis at birth Danziger et al. () USA Level III-2: A comparison with reference standard (not blinded or blinding not known) Quality: good with a low risk of bias N=16 male patients with CAVD (n=13 with CBAVD and n=1 CUAVD) or with idiopathic epididymal obstruction (n=2) Prospectively selected infertile men attending the male infertility clinic over a period who were diagnosed with obstructive azoospermia Inclusion criteria: (i) new diagnosis with no prior genotyping (ii) members of an ethnic group with an assumed low detection rate by common mutation panel mTTGE and DNA sequencing The Ambry CF Test includes a full mutation scan of all CFTR exons as well as relevant intronic regions by mTTGE analysis followed by DNA sequencing of suspect regions. A detailed history and physical examination was performed on all patients by an experienced urologist. The diagnosis of CAVD or idiopathic obstruction was based on physical examination findings.
1216-MSAC-CA-CFTR.docx