Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome-Reference-Cited by-同舟云学术

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

Published:2018-06-13 Issue:10 Volume:26 Page:1490-1496
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Huijsdens-van Amsterdam Karin,Page-Christiaens Lieve,Flowers Nicola,Bonifacio Michael D,Ellis Katie M Battese,Vogel Ida,Vestergaard Else Marie,Miguelez Javier,de Carvalho Mario Henrique Burlacchini,Sistermans Erik A^ORCID,Pertile Mark D^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0188-1.pdf

Reference32 articles.

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2. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372:1589–97.

3. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50:302–14.

4. Taneja PA, Snyder HL, de Feo E, et al. Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85000 cases. Prenat Diagn. 2016;36:237–43.

5. Zhang H, Gao Y, Jiang F, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015;45:530–8.

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