The First ongoing Pregnancy Following Comprehensive Aneuploidy Assessment Using a Combined Blastocenetesis, Cell Free DNA and Trophectoderm Biopsy Strategy.
Biopsy
Blastocentesis
Cell free DNA
Journal
Journal of reproduction & infertility
ISSN: 2228-5482
Titre abrégé: J Reprod Infertil
Pays: Iran
ID NLM: 101535586
Informations de publication
Date de publication:
Historique:
entrez:
13
3
2019
pubmed:
13
3
2019
medline:
13
3
2019
Statut:
ppublish
Résumé
The exact origin of cell-free DNA found in spent culture media or blastocoel fluid is currently unknown but with the potential to become an improved source of DNA for chromosomal analysis than trophectoderm biopsy samples, it provides a superior representation of the fetal genetic status. However, the genetic material contained within the blastocoel cavity may be more reliable to assessment of embryo euploidy in a clinical context than trophectoderm of cell-free DNA. This is the first UK case report where all three sources of DNA were analyzed in a clinical setting on 29 th January 2018 at the Centre for Reproductive and Genetic Health, London, leading to an ongoing clinical pregnancy. The experience from this case report suggests that removal of blastocoel fluid, sampling of spent culture media and trophectoderm biopsy can be carried out in parallel. Gathering genetic information from two to three independent samples of embryo DNA may provide enhanced diagnostic accuracy and may clarify cytogenetic status of mosaic embryos.
Sections du résumé
BACKGROUND
BACKGROUND
The exact origin of cell-free DNA found in spent culture media or blastocoel fluid is currently unknown but with the potential to become an improved source of DNA for chromosomal analysis than trophectoderm biopsy samples, it provides a superior representation of the fetal genetic status. However, the genetic material contained within the blastocoel cavity may be more reliable to assessment of embryo euploidy in a clinical context than trophectoderm of cell-free DNA.
CASE PRESENTATION
METHODS
This is the first UK case report where all three sources of DNA were analyzed in a clinical setting on 29 th January 2018 at the Centre for Reproductive and Genetic Health, London, leading to an ongoing clinical pregnancy.
CONCLUSION
CONCLUSIONS
The experience from this case report suggests that removal of blastocoel fluid, sampling of spent culture media and trophectoderm biopsy can be carried out in parallel. Gathering genetic information from two to three independent samples of embryo DNA may provide enhanced diagnostic accuracy and may clarify cytogenetic status of mosaic embryos.
Types de publication
Case Reports
Langues
eng
Pagination
57-62Déclaration de conflit d'intérêts
Conflict of Interest Authors declare no conflict of interest.
Références
Hum Reprod Update. 2011 Jul-Aug;17(4):454-66
pubmed: 21531751
Fertil Steril. 2011 Aug;96(2):264-8
pubmed: 21718989
Mol Cytogenet. 2012 May 02;5(1):24
pubmed: 22551456
Fertil Steril. 2013 Jul;100(1):100-7.e1
pubmed: 23548942
Reprod Biomed Online. 2013 Jun;26(6):603-10
pubmed: 23557766
Fertil Steril. 2013 Sep;100(3):624-30
pubmed: 23773313
Hum Reprod. 2013 Oct;28(10):2652-60
pubmed: 23887072
Fertil Steril. 2014 Dec;102(6):1692-9.e6
pubmed: 25256935
Reprod Biomed Online. 2015 Jan;30(1):57-66
pubmed: 25458852
Medicine (Baltimore). 2015 Mar;94(12):e669
pubmed: 25816038
Fertil Steril. 2015 Aug;104(2):418-25
pubmed: 26006737
Fertil Steril. 2015 Dec;104(6):1503-12
pubmed: 26385405
PLoS One. 2015 Oct 15;10(10):e0140779
pubmed: 26470028
Fertil Steril. 2016 Mar;105(3):676-683.e5
pubmed: 26658131
J Assist Reprod Genet. 2016 May;33(5):637-645
pubmed: 26899834
Hum Reprod. 2016 Oct;31(10):2245-54
pubmed: 27591227
Proc Natl Acad Sci U S A. 2016 Oct 18;113(42):11907-11912
pubmed: 27688762
J Ovarian Res. 2017 Mar 27;10(1):21
pubmed: 28347334
Hum Reprod. 2018 Apr 1;33(4):745-756
pubmed: 29471395
PLoS One. 2018 May 10;13(5):e0197262
pubmed: 29746572
Fertil Steril. 2018 Aug;110(3):408-409
pubmed: 30098689