PMID- 27720366
OWN - NLM
STAT- MEDLINE
DCOM- 20170724
LR  - 20170817
IS  - 1472-6491 (Electronic)
IS  - 1472-6483 (Linking)
VI  - 33
IP  - 5
DP  - 2016 Nov
TI  - Causes and estimated incidences of sex-chromosome misdiagnosis in preimplantation 
      genetic diagnosis of aneuploidy.
PG  - 550-559
LID - S1472-6483(16)30459-X [pii]
LID - 10.1016/j.rbmo.2016.08.011 [doi]
AB  - Preimplantation genetic diagnosis of aneuploidy (PGD-A) with comprehensive 
      chromosome analysis has been known to improve pregnancy outcomes. Accuracy in 
      detecting sex chromosomes becomes important when selecting against embryos at 
      risk for sex-linked disorders. A total of 21,356 PGD-A cycles consisting of day-3 
      (cleavage) or day-5 (blastocyst) biopsies were received at the same laboratory 
      for PGD-A via fluorescence in situ hybridization (FISH) or array comparative 
      genome hybridization (aCGH) from multiple fertility centres. The misdiagnosis 
      rates were 0.12% (Wilson 95% CI 0.05 to 0.25%) in day-3 FISH cycles, 0.48% 
      (Wilson 95% CI 0.19 to 1.22%) in day-3 aCGH cycles and 0.0% (Wilson 95% CI 0 to 
      0.26) in day-5 aCGH cycles. Although rare, the likely causative biological event 
      for true misdiagnosis is embryonic XX/XY mosaicism. Reanalysis of 1219 abnormal 
      cleavage-stage research embryos revealed a 73% incidence of minor and major 
      mosaicism. Only four (0.3%) embryos were found to be diploid and contained XX and 
      XY cells that could potentially account for the misdiagnosis of sex. Our 
      investigation identified errors leading to misdiagnosis and their attribution to 
      specific events during PGD-A testing. The reported misdiagnosis rates suggest 
      that PGD-A for sex determination is highly accurate, particularly when using aCGH 
      applied to blastocyst biopsies.
CI  - Copyright (c) 2016. Published by Elsevier Ltd.
FAU - Ravichandran, Krithika
AU  - Ravichandran K
AD  - Reprogenetics, 3 Regent Street, Livingston NJ 07039, USA.
FAU - Guzman, Luis
AU  - Guzman L
AD  - PRANOR, Grupo de Reproduccion Asistida, Av. Monterrico 1045, Urb El Derby de 
      Monterrico Lima55, Peru; Reprogenetics Latin-American, Encalada Av. 305 Lima 55, 
      Peru.
FAU - Escudero, Tomas
AU  - Escudero T
AD  - Reprogenetics, 3 Regent Street, Livingston NJ 07039, USA.
FAU - Zheng, Xuezhong
AU  - Zheng X
AD  - Reprogenetics, 3 Regent Street, Livingston NJ 07039, USA.
FAU - Colls, Pere
AU  - Colls P
AD  - Reprogenetics, 3 Regent Street, Livingston NJ 07039, USA.
FAU - Jordan, Amy
AU  - Jordan A
AD  - Reprogenetics, 3 Regent Street, Livingston NJ 07039, USA.
FAU - Cohen, Jacques
AU  - Cohen J
AD  - Reprogenetics, 3 Regent Street, Livingston NJ 07039, USA.
FAU - Wells, Dagan
AU  - Wells D
AD  - Reprogenetics UK, Institute for Reproductive Sciences, Oxford Business Park 
      North, UK; University of Oxford, Nuffield Department of Obstetrics and 
      Gynaecology, John Radcliffe Hospital, Oxford OX3 9DU, UK.
FAU - Munne, Santiago
AU  - Munne S
AD  - Reprogenetics, 3 Regent Street, Livingston NJ 07039, USA. Electronic address: 
      santi@reprogenetics.com.
LA  - eng
PT  - Journal Article
DEP - 20160820
PL  - Netherlands
TA  - Reprod Biomed Online
JT  - Reproductive biomedicine online
JID - 101122473
SB  - IM
CIN - Reprod Biomed Online. 2016 Nov;33(5):585-586. PMID: 27665056
MH  - *Aneuploidy
MH  - Biopsy
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mosaicism
MH  - Preimplantation Diagnosis/*methods/standards
MH  - *Sex Chromosomes
MH  - Sex Preselection/*methods
OTO - NOTNLM
OT  - PGD-A
OT  - discrepancy
OT  - misdiagnosis
OT  - mosaicism
EDAT- 2016/10/11 06:00
MHDA- 2017/07/25 06:00
CRDT- 2016/10/11 06:00
PHST- 2016/03/18 00:00 [received]
PHST- 2016/08/11 00:00 [revised]
PHST- 2016/08/12 00:00 [accepted]
PHST- 2016/10/11 06:00 [pubmed]
PHST- 2017/07/25 06:00 [medline]
PHST- 2016/10/11 06:00 [entrez]
AID - S1472-6483(16)30459-X [pii]
AID - 10.1016/j.rbmo.2016.08.011 [doi]
PST - ppublish
SO  - Reprod Biomed Online. 2016 Nov;33(5):550-559. doi: 10.1016/j.rbmo.2016.08.011. 
      Epub 2016 Aug 20.