Table Key features of the included evidence for diagnostic accuracy studies comparing CFTR mutation testing with clinical diagnosis in fetuses with carrier parents Study Study design Patient population Index test Reference standard Key Country Risk of bias outcome(s) Kanavakis Level III-2 N=115 DGGE and Clinical diagnosis of Sensitivity et al. fetus samples from mediated site-directed child after birth Low risk of (2003) carrier parents mutagenesis bias Greece Collazo et Level III-2 N=72/108 ARMS and Sensitivity al. (2014) fetus samples from restriction Low risk of couples with some risk enzyme analysis Cuba bias of having a child affected by CF Castaldo et Level IV N=33 ASOH and STR No reference standard Yield al. (2000) fetus samples from 32 genotyping Low risk of high-risk couples (1 Italy bias dizygotic twin pregnancy) Saker et al. Level IV N=12 PCR and STR No reference standard Yield (2006) fetus samples from genotyping Some risk of carrier couples France bias ARMS = amplification refractory mutation system; ASOH = allele-specific oligonucleotide hybridisation; CF = cystic fibrosis; DGGE = denaturing gradient gel electrophoresis; PCR = polymerase chain reaction; STR = short tandem repeats Table Key features of the included evidence for diagnostic accuracy studies comparing CFTR mutation testing with clinical diagnosis in fetuses with FEB Study Study design Patient population Index test Reference standard Key Country Risk of bias outcome(s) Kanavakis Level IV N=49 DGGE and DNA No reference standard Yield et al. fetus samples for FEB sequencing Low risk of (2003) detected by ultrasound confirmation bias Greece DGGE = denaturing gradient gel electrophoresis; DNA = deoxyribonucleic acid; FEB = fetal echogenic bowel
Table Key features of the included evidence for diagnostic accuracy studies comparing CFTR mutation testing with clinical diagnosis in fetuses with carrier parents Study Country Study design Risk of bias Patient population Index test Reference standard Key outcome(s) Kanavakis et al. (2003) Greece Level III-2 Low risk of bias N=115 fetus samples from carrier parents DGGE and site-directed mutagenesis Clinical diagnosis of child after birth Sensitivity Collazo et al. (2014) Cuba Level III-2 Low risk of bias N=72/108 fetus samples from couples with some risk of having a child affected by CF ARMS and restriction enzyme analysis Sensitivity Castaldo et al. (2000) Italy Level IV Low risk of bias N=33 fetus samples from 32 high-risk couples (1 dizygotic twin pregnancy) ASOH and STR genotyping No reference standard Yield Saker et al. (2006) France Level IV Some risk of bias N=12 fetus samples from carrier couples PCR and STR genotyping No reference standard Yield ARMS = amplification refractory mutation system; ASOH = allele-specific oligonucleotide hybridisation; CF = cystic fibrosis; DGGE = denaturing gradient gel electrophoresis; PCR = polymerase chain reaction; STR = short tandem repeats Table Key features of the included evidence for diagnostic accuracy studies comparing CFTR mutation testing with clinical diagnosis in fetuses with FEB Study Country Study design Risk of bias Patient population Index test Reference standard Key outcome(s) Kanavakis et al. (2003) Greece Level IV Low risk of bias N=49 fetus samples for FEB detected by ultrasound DGGE and DNA sequencing confirmation No reference standard Yield DGGE = denaturing gradient gel electrophoresis; DNA = deoxyribonucleic acid; FEB = fetal echogenic bowel mediated