TABLE 1.
Characteristics of studies included for meta-analysis of cfDNA testing for fetal SCA
| Study author | Year | Pretest risk | Test description | Diagnostic reference | Study design |
|---|---|---|---|---|---|
| Bianchi | 2012 | High | MPSS | Karyotype, FISH | Prospective, multicenter, observational |
| Bianchi | 2013 | High | MPSS | Karyotype | Prospective, multicenter, observational |
| Guseh | 2021 | High | MPSS | Karyotype, microarray | Prospective, single center, observational |
| Hooks | 2014 | High | MPSS | Karyotype | Prospective, single center, observational |
| Lau | 2012 | High | MPSS | Karyotype | Prospective, single center, observational |
| Lefkowitz | 2016 | High | MPSS | Karyotype, microarray, sequencing | Retrospective, multicenter, observational |
| Li | 2018 | High | MPSS | Karyotype | Retrospective, single center, observational |
| Liang | 2013 | High | MPSS | Karyotype | Prospective, multicenter, observational |
| Mazloom | 2013 | High | MPSS | Karyotype | Retrospective, single center, observational |
| Meck | 2015 | High | Multiple | Karyotype, microarray | Retrospective, multi center, observational |
| Nicolaides | 2013 | High | TMPS | Karyotype | Prospective, single center, observational |
| Nicolaides | 2014 | High | SNP | Karyotype | Retrospective, single center, case-control |
| Pergament | 2014 | High | SNP | Karyotype | Prospective, multicenter, observational |
| Persico | 2016 | High | SNP | Karyotype, microarray | Prospective, multicenter, observational |
| Petersen | 2017 | High | Multiple | Karyotype, FISH, microarray | Retrospective, single center/multisite, observational |
| Porreco | 2014 | High | MPSS | Karyotype | Prospective, multicenter, observational |
| Porreco | 2020 | High | SNP | Karyotype | Prospective and retrospective, single center, observational |
| Sehnert | 2011 | High | MPSS | Karyotype | Retrospective, multicenter, observational |
| Shubina | 2017 | High | MPSS | Karyotype, FISH | Retrospective and prospective, single center, observational |
| Song | 2015 | High | MPSS | Karyotype | Prospective, single center, observational |
| Zhu | 2019 | High | MPSS | Karyotype | Prospective, single center, observational |
Data are presented as first author’s last name, year of publication, pretest risk (high/low), test description, diagnostic reference standard.
Abbreviations: FISH, fluorescence in situ hybridization; MPSS, massively parallel shotgun sequencing; SNP, single nucleotide polymorphism; TMPS, targeted massively parallel sequencing.