Table I.
Summary of included studies
| Included studies (in order of citation) | Study population (all mid-trimester AF supernatants unless otherwise stated) | Major findings |
|---|---|---|
| Bianchi et al. (2001) | 38 euploid pregnancies | First report of the presence cff DNA from AF supernatant; fetal DNA >100 times more concentrated than in maternal plasma |
| Lapaire et al. (2006) | 29 euploid pregnancies | Protocol optimization improves yields of cff DNA and reduces processing time |
| Lapaire et al. (2008) | ||
| Lapaire et al. (2007a) | 39 euploid and 4 aneuploid pregnancies | Gestational age, storage time and fetal karyotype influence cff DNA fragmentation patterns |
| Peter et al. (2008) | 36 euploid and 29 aneuploid pregnancies | Unique cff DNA fragmentation signatures identified according to fetal karyotype |
| Winter et al. (2008) | 58 euploid pregnancies | cff DNA is bound to high-mobility group protein HMGA2 |
| Lee et al. (2002) | Matched AF and maternal serum samples from 5 euploid and 6 trisomy 21 pregnancies | No correlation between cff DNA levels in maternal serum and AF |
| Zhong et al. (2006) | 12 matched AF and maternal plasma samples from euploid pregnancies | No correlation between cff DNA levels in maternal plasma and AF |
| Makrydimas et al. (2008) | 11 live pregnancies at 7–9 weeks undergoing surgical termination | Describes concentration gradient of cff DNA in different fetal/maternal compartments: AF (highest) → celomic fluid → maternal serum (lowest) |
| Lun et al. (2007) | 14 euploid pregnancies | Epigenetic approach shows placental DNA sequences are present in much lower proportions in AF compared with maternal plasma |
| Larrabee et al. (2004) | 17 euploid and 4 aneuploid pregnancies | Successful feasibility study of molecular karyotyping using array CGH analysis of AF cff DNA |
| Miura et al. (2006b) | 13 fetuses with congenital anomalies (6 aneuploid, 6 euploid and 1 balanced translocation) | Molecular karyotyping using targeted microarray-based CGH analysis of AF cff DNA |
| Lapaire et al. (2007b) | Nine aneuploid and one euploid fetus | Molecular karyotyping using array CGH to detect aneuploidy |
| Larrabee et al. (2005b) | Six normal pregnancies and one pregnancy with polyhydramnios | Filtration study showing that AF mRNA is particle-associated |
| Larrabee et al. (2005a) | Four polyhydramniotic pregnancies (20–32 weeks) and six normal controls (17 weeks) | Gene expression patterns vary according to gender, gestational age and disease state; placenta-specific gene sequences not detected in AF |
| Slonim et al. (2009) | Seven normal and seven trisomy 21 fetuses | Functional genomic analysis identifies specific pathways disrupted in Down syndrome pregnancies |