Table 2.
Performance of Maternal Biomarkers in Predicting Fetal Hb Bart’s Disease.
| Specimens/Procedures | Biomarkers | Cut-Off Value | Test Performance | References |
|---|---|---|---|---|
| Fetal cell-free DNA | Fetal cell-free DNA (GA 11–13 weeks) |
- | sens: 98.08% spec: 96.06% |
[6] |
| Maternal serum biomarker in second trimester | MAFP | ≥1.5 MoM | sens: 87.2% spec: 74.5% |
[23,24,25,27,64] |
| uE3 | <5th percentile | p < 0.001 | ||
| Free β-hCG | Increased | p = 0.543 | ||
| PAPP-A | Increased | p = 0.777 | ||
| Inhibin-A | Increased | p = 0.001 | ||
| PlGF | Increased | p = 0.008 | ||
| sFlt-1 | Increased | p = 0.139 | ||
| sFlt-1/PlGF ratio | Decreased | p = 0.001 | ||
| Combined biochemical and imaging markers | Predictive model (MAFP + uE3) 1/1 + e−[2.876 + 1.333(AFP_MoM) − 6.310(uE3_MoM)] |
0.5 | sens: 61.5% spec: 98.1% |
[64] |
| MAFP + MCA-PSV (>1.5 MoM) | - | sens: 97.9% spec: 69.1% |
||
| MAFP + CTR (>0.5) | - | sens: 100.0% spec: 59.3% |
||
| MAFP + Placental thickness (>3.0 cm) | - | sens: 88.9% spec: 69.5% |
||
| MAFP + MCA-PSV + CTR | - | sens: 100.0% spec: 48.1% |
Abbreviations: β-hCG, human chorionic gonadotropin beta-subunit; CTR, cardiac diameter/thoracic diameter ratio; GA, gestational age; MAFP, maternal alpha fetoprotein; MCA-PSV, peak systolic velocity in the fetal middle cerebral artery; MoM, multiples of the median; PAPP-A, pregnancy associated plasma protein-A; PlGF, placental growth factor; sens, sensitivity; sFlt-1, soluble fms-like tyrosine kinase-1; spec, specificity; uE3: unconjugated estriol.