Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis

M M Gil, R Akolekar, M S Quezada, B Bregant, K H Nicolaides
Fetal Diagnosis and Therapy 2014, 35 (3): 156-73

OBJECTIVE: To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis in screening for aneuploidies and to explore the potential use of this method in clinical practice.

METHODS: Searches of PubMed and MEDLINE were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between 2011, when the first such study was published, and 20 December 2013.

RESULTS: Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.0% (95% CI 98.2–99.6) and 0.08% (95% CI0.03–0.14), respectively, for trisomy 21; 96.8% (95% CI 94.5–98.4) and 0.15% (95% CI 0.08–0.25) for trisomy 18; 92.1% (95% CI 85.9–96.7) and 0.20% (95% CI 0.04–0.46) for trisomy 13; 88.6% (95% CI 83.0–93.1) and 0.12% (95% CI 0.05–0.24) for monosomy X, and 93.8% (95% CI 85.9–98.7) and 0.12% (95% CI 0.02–0.28) for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR was 94.4% (95% 74.2–99.0) and the FPR was 0% (95% CI 0.00–1.84) for trisomy 21.

CONCLUSION: An analysis of cfDNA in maternal blood provides effective screening for trisomies.

Full Text Links

Find Full Text Links for this Article


You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"