December 2015. Volume 11. Number 4

Cell-free fetal DNA, alternative for the noninvasive prenatal diagnosis of Down syndrome

 
 
 
 
 
 
 
 
 
 
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AVC | Critically appraised articles

Norton ME, Jacobsson B, Swamy G, Laurent LC, Ranzini AC, Brar H, et al. Cell-fre DNA anlysis for noninvasive examination of trisomy. N Engl J Med. 2015;372:1589-97.

Reviewers: Aizpurua Galdeano P1, Orejón de Luna G2.
1CS Amara Berri. San Sebastián. España.
2CS General Ricardos. Madrid. España.
Correspondence: Pilar Aizpurua Galdeano. Email: 19353pag@gmail.com
Reception date: 09/09/2015
Acceptance date: 15/09/2015
Publication date: 23/09/2015

Abstract

Authors' conclusions: the technique of fetal DNA for prenatal screening for trisomy 21 has a higher sensitivity, a smaller proportion of false positive and positive predictive value greater than the standard screening.

Reviewers' commentary: cell-free DNA test improves the non-invasive diagnosis of Down syndrome and, to a lesser extent of trisomies 13 and 18, although amniocentesis is still recommended to confirm a positive result. Doubts about the cost-effectiveness of the test in the low-risk obstetric population limit its use in the general population.

How to cite this article

Aizpura Galdeano P, Orejón de Luna G. La prueba de ADN fetal libre de células, alternativa para el diagnóstico prenatal no invasivo del síndrome de Down. Evid Pediatr. 2015;11:57.

AVC | Critically appraised articles

Norton ME, Jacobsson B, Swamy G, Laurent LC, Ranzini AC, Brar H, et al. Cell-fre DNA anlysis for noninvasive examination of trisomy. N Engl J Med. 2015;372:1589-97.

Reviewers: Aizpurua Galdeano P1, Orejón de Luna G2.
1CS Amara Berri. San Sebastián. España.
2CS General Ricardos. Madrid. España.
Correspondence: Pilar Aizpurua Galdeano. Email: 19353pag@gmail.com
Reception date: 09/09/2015
Acceptance date: 15/09/2015
Publication date: 23/09/2015

How to cite this article

Aizpura Galdeano P, Orejón de Luna G. La prueba de ADN fetal libre de células, alternativa para el diagnóstico prenatal no invasivo del síndrome de Down. Evid Pediatr. 2015;11:57.

References

  1. BlueCross BlueShield Association. Sequencing-based tests to determine fetal Down syndrome from maternal plasma DNA. Technol Eval Cent Assess Program Exec Summ. 2013;27:1-6.
  2. Lundh A, Sismondo S, Lexchin J, Busuioc OA, Bero L. Industry sponsorship and research outcome. Cochrane Database Syst Rev. 2012;12:MR000033.
  3. Datos estadísticos. En: Down21.org [en línea] [consultado el 15/09/2015]. Disponible en: http://www.down21.org/web_n/index.php?option=com_content&view=category&id=140:datos-estadisticos&Itemid=1057&layout=default
  4. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updatedmeta-analysis. Ultrasound Obstet Gynecol. 2015;45:249-66.
  5. Non-invasive prenatal testing: a review of the cost effectiveness and guidelines. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2014. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK274056/

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CA | ¿Es útil la prueba de ADN fetal libre de células para el diagnóstico de síndrome de Down?

García Santiago FA. ¿Es útil la prueba de ADN fetal libre de células para el diagnóstico de síndrome de Down? Evid Pediatr. 2015;11:66.
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Linked Comment

CA | ¿Es útil la prueba de ADN fetal libre de células para el diagnóstico de síndrome de Down?

García Santiago FA. ¿Es útil la prueba de ADN fetal libre de células para el diagnóstico de síndrome de Down? Evid Pediatr. 2015;11:66.