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

Abstract

OBJECTIVE

To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies.

METHODS

Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published, and 4 January 2015.

RESULTS

In total, 37 relevant studies were identified and these were used for the meta-analysis on the performance of cfDNA testing in screening for aneuploidies. These studies reported cfDNA results in relation to fetal karyotype from invasive testing or clinical outcome. Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.2% (95% CI, 98.5-99.6%) and 0.09% (95% CI, 0.05-0.14%), respectively, for trisomy 21, 96.3% (95% CI, 94.3-97.9%) and 0.13% (95% CI, 0.07-0.20) for trisomy 18, 91.0% (95% CI, 85.0-95.6%) and 0.13% (95% CI, 0.05-0.26%) for trisomy 13, 90.3% (95% CI, 85.7-94.2%) and 0.23% (95% CI, 0.14-0.34%) for monosomy X and 93.0% (95% CI, 85.8-97.8%) and 0.14% (95% CI, 0.06-0.24%) for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR for trisomy 21 was 93.7% (95% CI, 83.6-99.2%) and the FPR was 0.23% (95% CI, 0.00-0.92%).

CONCLUSION

Screening for trisomy 21 by analysis of cfDNA in maternal blood is superior to that of all other traditional methods of screening, with higher DR and lower FPR. The performance of screening for trisomies 18 and 13 and sex chromosome aneuploidies is considerably worse than that for trisomy 21.

Authors+Show Affiliations

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Meta-Analysis
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

25639627

Citation

Gil, M M., et al. "Analysis of Cell-free DNA in Maternal Blood in Screening for Fetal Aneuploidies: Updated Meta-analysis." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 45, no. 3, 2015, pp. 249-66.
Gil MM, Quezada MS, Revello R, 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.
Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., & Nicolaides, K. H. (2015). Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 45(3), pp. 249-66. doi:10.1002/uog.14791.
Gil MM, 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. PubMed PMID: 25639627.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. AU - Gil,M M, AU - Quezada,M S, AU - Revello,R, AU - Akolekar,R, AU - Nicolaides,K H, Y1 - 2015/02/01/ PY - 2015/01/10/received PY - 2015/01/13/accepted PY - 2015/2/3/entrez PY - 2015/2/3/pubmed PY - 2015/12/29/medline KW - Turner syndrome KW - cell-free fetal DNA KW - fetal aneuploidy KW - non-invasive prenatal testing KW - trisomy 13 KW - trisomy 18 KW - trisomy 21 SP - 249 EP - 66 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 45 IS - 3 N2 - OBJECTIVE: To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies. METHODS: Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published, and 4 January 2015. RESULTS: In total, 37 relevant studies were identified and these were used for the meta-analysis on the performance of cfDNA testing in screening for aneuploidies. These studies reported cfDNA results in relation to fetal karyotype from invasive testing or clinical outcome. Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.2% (95% CI, 98.5-99.6%) and 0.09% (95% CI, 0.05-0.14%), respectively, for trisomy 21, 96.3% (95% CI, 94.3-97.9%) and 0.13% (95% CI, 0.07-0.20) for trisomy 18, 91.0% (95% CI, 85.0-95.6%) and 0.13% (95% CI, 0.05-0.26%) for trisomy 13, 90.3% (95% CI, 85.7-94.2%) and 0.23% (95% CI, 0.14-0.34%) for monosomy X and 93.0% (95% CI, 85.8-97.8%) and 0.14% (95% CI, 0.06-0.24%) for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR for trisomy 21 was 93.7% (95% CI, 83.6-99.2%) and the FPR was 0.23% (95% CI, 0.00-0.92%). CONCLUSION: Screening for trisomy 21 by analysis of cfDNA in maternal blood is superior to that of all other traditional methods of screening, with higher DR and lower FPR. The performance of screening for trisomies 18 and 13 and sex chromosome aneuploidies is considerably worse than that for trisomy 21. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/25639627/Analysis_of_cell_free_DNA_in_maternal_blood_in_screening_for_fetal_aneuploidies:_updated_meta_analysis_ L2 - https://doi.org/10.1002/uog.14791 DB - PRIME DP - Unbound Medicine ER -