Tytuł pozycji:
Lack of evidence to support recommendation for prenatal uniparental disomy (UPD) analysis following mosaic embryo transfer.
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Tytuł:
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Lack of evidence to support recommendation for prenatal uniparental disomy (UPD) analysis following mosaic embryo transfer.
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Autorzy:
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Mounts EL; ORM Fertility, Portland, OR, USA.
Besser AG; NYU Langone Medical Center, NYU Fertility Center, New York, NY, USA. .
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Źródło:
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Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jan; Vol. 23 (1), pp. 230-231. Date of Electronic Publication: 2020 Aug 19.
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Typ publikacji:
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Letter; Comment
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Język:
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English
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Imprint Name(s):
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Publication: 2022- : [New York] : Elsevier
Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-
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MeSH Terms:
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Genetics, Medical*
Uniparental Disomy*/genetics
Diagnostic Techniques and Procedures ; Embryo Transfer ; Female ; Genomics ; Humans ; Pregnancy ; United States
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References:
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Del Gaudio D, Shinawi M, Astbury C, et al. ACMG Laboratory Quality Assurance Committee. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22:1133–1141.
Coonen E, Harper JC, Ramaekers FC, et al. Presence of chromosomal mosaicism in abnormal preimplantation embryos detected by fluorescence in situ hybridisation. Hum Genet. 1994;94:609–615. (PMID: 10.1007/BF00206952)
Wells D. Next-generation sequencing: the dawn of a new era for preimplantation genetic diagnostics. Fertil Steril. 2014;101:1250–1251. (PMID: 10.1016/j.fertnstert.2014.03.006)
Practice Committee and Genetic Counselor Professional Group (GCPG) of the American Society for Reproductive Medicine. Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion. Fertil Steril. (in press).
Scott RT Jr, Galliano D. The challenge of embryonic mosaicism in preimplantation genetic screening. Fertil Steril. 2016;105:1150–1152. (PMID: 10.1016/j.fertnstert.2016.01.007)
Goodrich D, Tao X, Bohrer C, et al. A randomized and blinded comparison of qPCR and NGS-based detection of aneuploidy in a cell line mixture model of blastocyst biopsy mosaicism. J Assist Reprod Genet. 2016;33:1473–1480. (PMID: 10.1007/s10815-016-0784-3)
Capalbo A, Rienzi L. Mosaicism between trophectoderm and inner cell mass. Fertil Steril. 2017;107:1098–1106. (PMID: 10.1016/j.fertnstert.2017.03.023)
Besser AG, Mounts EL. Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening. Reprod Biomed Online. 2017;34:369–374. (PMID: 10.1016/j.rbmo.2017.01.003)
Sachdev NM, Maxwell SM, Besser AG, Grifo JA. Diagnosis and clinical management of embryonic mosaicism. Fertil Steril. 2017;107:6–11. (PMID: 10.1016/j.fertnstert.2016.10.006)
Grati FR, Gallazzi G, Branca L, Maggi F, Simoni G, Yaron Y. An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening. Reprod Biomed Online. 2018;36:442–449. (PMID: 10.1016/j.rbmo.2018.01.005)
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Entry Date(s):
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Date Created: 20200821 Date Completed: 20210603 Latest Revision: 20220210
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Update Code:
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20240105
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DOI:
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10.1038/s41436-020-00941-w
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PMID:
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32814849
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Comment on: Genet Med. 2020 Jul;22(7):1133-1141. (PMID: 32296163)
Comment in: Genet Med. 2021 Jan;23(1):240-242. (PMID: 32814848)