Cell-free DNA screening performance table
Performance of cell-free DNA screening by condition
Note that each laboratory may have different conditions offered for cfDNA screening and their own lab-specific analytic data.
Sensitivity |
Specificity |
False positive rate |
Positive predictive value1 |
||
| High risk2 | General population | ||||
| Trisomy 21 | 99% | >99% | <1% | 91% | 82% |
|---|---|---|---|---|---|
| Trisomy 18 | 97% | >99% | <1% | 84% | 37% |
| Trisomy 13 | 92% | >99% | <1% | 87% | 49% |
| Sex chromosome conditions3 | 90-93% | >99% | <1% | 25-52% | 25-41% |
| Microdeletion conditions4 | Unknown | Unknown | Unknown | Unknown | Unknown |
1Positive predictive values (PPV) presented are estimates for educational purposes. PPV will be specific to a given patient based on age and other characteristics. See NSGC/PQF calculator or UNC calculator to compute personalized PPV risk estimates for a given patient.
2High risk = advanced maternal age, personal/family history, positive other screening, ultrasound abnormality
3Includes XO (Monosomy X, Turner syndrome), XXY (Klinefelter syndrome), Trisomy X (Triple X syndrome), and XYY (Jacob syndrome). Limited validity data available.
4Includes 22q11.2 deletion syndrome (DiGeorge syndrome), 1p36 deletion syndrome, 15q11.2 deletion (Angelman and Prader-Willi syndromes), 5p deletion (Cri-du-chat syndrome), 4p deletion (Wolf-Hirschhorn syndrome). 8q24 deletion (Langer-Giedion syndrome), and 11q deletion (Jacobsen's syndrome). Limited validity data available.
References
ACOG and SMFM, Practice bulletin #163: Screening for fetal aneuploidy. 2016.
Bianchi DW et al. Sequencing of Circulating Cell-Free DNA During Pregnancy. N Eng J Med 2018; 379:464-473.
Gil, M.M., et al., Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol, 2017; 50(3):302-314.
Gregg, A.R., et al., Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med, 2016.
Mackie, F.L., et al., The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG, 2016.
Taylor-Phillips, S., et al., Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open, 2016; 6(1): p. e010002.
Updated May 2019