PMID- 21224285
OWN - NLM
STAT- MEDLINE
DCOM- 20110526
LR  - 20110214
IS  - 1460-2350 (Electronic)
IS  - 0268-1161 (Linking)
VI  - 26
IP  - 3
DP  - 2011 Mar
TI  - Cellular and genetic analysis of oocytes and embryos in a human case of 
      spontaneous oocyte activation.
PG  - 545-52
LID - 10.1093/humrep/deq363 [doi]
AB  - Unusual and consistent defects in infertility patients merit attention as these 
      may indicate an underlying genetic abnormality, in turn necessitating tailored 
      management strategies. We describe a case of repeated early pregnancy loss from 
      in vivo conceptions, followed by cancelled embryo transfers after one IVF and one 
      ICSI/PGD cycle. Following the unexpected presence of cleaved embryos at the 
      fertilization check in the first IVF attempt, oocytes and embryos were 
      subsequently analyzed in an ICSI/PGD case. Part of the oocyte cohort was fixed at 
      retrieval for a cellular evaluation of microtubules, microfilaments and 
      chromatin. The remaining oocytes were injected with sperm, and resultant embryos 
      were biopsied for genetic analysis by fluorescence in situ hybridization (FISH), 
      single-nucleotide polymorphism (SNP) microarray for 23 chromosome pairs, as well 
      as with PCR for sex chromosomes. The presence of interphase microtubule networks 
      and pronuclear structures indicated that oocytes were spontaneously activated by 
      the time of retrieval. FISH revealed aneuploidy in all seven blastomeres 
      analyzed, with all but two lacking Y chromosomes. Microarray SNP analysis showed 
      an exclusively maternal origin of all blastomeres analyzed, which was further 
      confirmed by PCR. From our multi-faceted analyses, we conclude that spontaneous 
      activation, or parthenogenesis, was probably the pathology underlying our 
      patient's recurrent inability to maintain a normal pregnancy. Such analyses may 
      prove beneficial not only in diagnosing case-specific aberrations for other 
      patients with similar or related failures, but also for furthering our general 
      understanding of oocyte activation.
FAU - Combelles, Catherine M H
AU  - Combelles CM
AD  - Biology Department, Middlebury College, Middlebury, VT 05753, USA. 
      ccombell@middlebury.edu
FAU - Kearns, William G
AU  - Kearns WG
FAU - Fox, Janis H
AU  - Fox JH
FAU - Racowsky, Catherine
AU  - Racowsky C
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20110111
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
RN  - 0 (Chromatin)
SB  - IM
MH  - Adult
MH  - Aneuploidy
MH  - Blastocyst/metabolism/ultrastructure
MH  - Blastomeres/*metabolism/*ultrastructure
MH  - Chromatin/chemistry
MH  - Cytoskeleton/ultrastructure
MH  - Embryo Loss/*genetics/*pathology
MH  - Female
MH  - Humans
MH  - Oocytes/*metabolism/*ultrastructure
MH  - Parthenogenesis
MH  - Pregnancy
MH  - Preimplantation Diagnosis
MH  - Sperm Injections, Intracytoplasmic
EDAT- 2011/01/13 06:00
MHDA- 2011/05/27 06:00
CRDT- 2011/01/13 06:00
PHST- 2011/01/13 06:00 [entrez]
PHST- 2011/01/13 06:00 [pubmed]
PHST- 2011/05/27 06:00 [medline]
AID - deq363 [pii]
AID - 10.1093/humrep/deq363 [doi]
PST - ppublish
SO  - Hum Reprod. 2011 Mar;26(3):545-52. doi: 10.1093/humrep/deq363. Epub 2011 Jan 11.