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 the NIPT PPV calculator to see personalized 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), and 4p deletion (Wolf-Hirschhorn syndrome). Limited validity data available.

References

ACOG and SMFM, Practice bulletin #163: Screening for fetal aneuploidy. 2016.

ACOG and SMFM, Committee Opinion #640: Cell-Free DNA Screening For Fetal Aneuploidy. Obstet Gynecol, 2015; 126(3):e31-7.

Gil, M.M., et al., Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol, 2015; 45(3):249-66.

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.