Table 2.
cfDNA+ SCA trisomy with tetrasomy diagnostic outcomes in eXtraordinarY Babies Study.
| cfDNA Result | Cytogenetic Result | Fetal Fraction (%) |
Maternal Pre-Pregnancy BMI (kg/cm2) |
Maternal Age Range at Birth (yrs) |
|---|---|---|---|---|
| XXY | 48,XXYY | 7.0 | 26.5 | 30–34 |
| XXY | 48,XXYY | NR | 22.4 | 30–34 |
| XXY | 48,XXYY | 4.0 | 36.6 | 35–39 |
| XYY | 48,XXYY | 6.0 | 25.6 | 20–24 |
| XXY | 48,XXYY | 6.1 | 30.2 | 30–34 |
| XXY | 48,XXYY | NR | 22.1 | 45–49 |
| XXY | 48,XXYY | 13.0 | 28.3 | 30–34 |
| XXY | 48,XXYY | 11.0 | 20.4 | 30–34 |
| XXY | 48,XXYY | 4.8 | 27.2 | 20–24 |
| XXY | 48,XXYY | 7.2 | NR | 35–39 |
| XXY | 48,XXXY | 5.0 | 39 | 25–29 |
| XYY | 48,XXYY | 7.1 | 24 | 20–24 |
| XXY | 48,XXYY | 19.0 | 37.5 | 35–39 |
| XXY | 48,XXXY | 6.0 | 19.3 | 15–19 |
| Median: 6.5 Range 4–19 |
Mean 27.6 IQR: 19.3, 30.2 |
Mode: 30–34 |
NR = Not Reported, cfDNA = Prenatal Cell-Free DNA Screening, SCA = Sex Chromosome Aneuploidy, BMI = Body Mass Index.