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Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma.
J Obstet Gynaecol Can 2013; 35(2):177-181JO

Abstract

OBJECTIVE

To provide a review of published studies on the use of cell-free fetal DNA in maternal plasma for the non-invasive diagnosis of Down syndrome, trisomy 18, and trisomy 13.

EVIDENCE

PubMed was searched for articles published between 2006 and October 2012, using appropriate key words (e.g., non-invasive prenatal diagnosis, Down syndrome, cell-free fetal DNA, aneuploidy screening). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated in the guideline to October 31, 2012. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.

VALUES

The studies reviewed were classified according to criteria described by the Canadian Task Force on Preventive Health Care, and the recommendations for practice were ranked according to this classification (Table 1). Recommendations 1. Non-invasive prenatal testing using massive parallel sequencing of cell-free fetal DNA to test for trisomies 21, 18, and 13 should be an option available to women at increased risk in lieu of amniocentesis. Pretest counselling of these women should include a discussion of the limitations of non-invasive prenatal testing. (II-2A) 2. No irrevocable obstetrical decision should be made in pregnancies with a positive non-invasive prenatal testing result without confirmatory invasive diagnostic testing. (II-2A) 3. Although testing of cell-free fetal DNA in maternal plasma appears very promising as a screening test for Down syndrome and other trisomies, studies in average-risk pregnancies and a significant reduction in the cost of the technology are needed before this can replace the current maternal screening approach using biochemical serum markers with or without fetal nuchal translucency ultrasound. (III-A).

Authors+Show Affiliations

Vancouver BC.Halifax NS.No affiliation info available

Pub Type(s)

Journal Article

Language

eng fre

PubMed ID

23470070

Citation

Langlois, Sylvie, et al. "Current Status in Non-invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-free DNA in Maternal Plasma." Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstetrique Et Gynecologie Du Canada : JOGC, vol. 35, no. 2, 2013, pp. 177-181.
Langlois S, Brock JA, GENETICS COMMITTEE. Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. J Obstet Gynaecol Can. 2013;35(2):177-181.
Langlois, S., & Brock, J. A. (2013). Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstetrique Et Gynecologie Du Canada : JOGC, 35(2), pp. 177-181. doi:10.1016/S1701-2163(15)31025-2.
Langlois S, Brock JA, GENETICS COMMITTEE. Current Status in Non-invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-free DNA in Maternal Plasma. J Obstet Gynaecol Can. 2013;35(2):177-181. PubMed PMID: 23470070.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. AU - Langlois,Sylvie, AU - Brock,Jo-Ann, AU - ,, PY - 2013/3/9/entrez PY - 2013/3/9/pubmed PY - 2014/9/16/medline SP - 177 EP - 181 JF - Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC JO - J Obstet Gynaecol Can VL - 35 IS - 2 N2 - OBJECTIVE: To provide a review of published studies on the use of cell-free fetal DNA in maternal plasma for the non-invasive diagnosis of Down syndrome, trisomy 18, and trisomy 13. EVIDENCE: PubMed was searched for articles published between 2006 and October 2012, using appropriate key words (e.g., non-invasive prenatal diagnosis, Down syndrome, cell-free fetal DNA, aneuploidy screening). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated in the guideline to October 31, 2012. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. VALUES: The studies reviewed were classified according to criteria described by the Canadian Task Force on Preventive Health Care, and the recommendations for practice were ranked according to this classification (Table 1). Recommendations 1. Non-invasive prenatal testing using massive parallel sequencing of cell-free fetal DNA to test for trisomies 21, 18, and 13 should be an option available to women at increased risk in lieu of amniocentesis. Pretest counselling of these women should include a discussion of the limitations of non-invasive prenatal testing. (II-2A) 2. No irrevocable obstetrical decision should be made in pregnancies with a positive non-invasive prenatal testing result without confirmatory invasive diagnostic testing. (II-2A) 3. Although testing of cell-free fetal DNA in maternal plasma appears very promising as a screening test for Down syndrome and other trisomies, studies in average-risk pregnancies and a significant reduction in the cost of the technology are needed before this can replace the current maternal screening approach using biochemical serum markers with or without fetal nuchal translucency ultrasound. (III-A). SN - 1701-2163 UR - https://www.unboundmedicine.com/medline/citation/23470070/Current_status_in_non_invasive_prenatal_detection_of_Down_syndrome_trisomy_18_and_trisomy_13_using_cell_free_DNA_in_maternal_plasma_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1701-2163(15)31025-2 DB - PRIME DP - Unbound Medicine ER -