PMID- 27600956
OWN - NLM
STAT- MEDLINE
DCOM- 20170324
LR  - 20231104
IS  - 1477-7827 (Electronic)
IS  - 1477-7827 (Linking)
VI  - 14
IP  - 1
DP  - 2016 Sep 6
TI  - 45,X product of conception after preimplantation genetic diagnosis and euploid 
      embryo transfer: evidence of a spontaneous conception confirmed by DNA 
      fingerprinting.
PG  - 55
LID - 10.1186/s12958-016-0190-9 [doi]
LID - 55
AB  - BACKGROUND: Preimplantation genetic screening (PGS) provides an opportunity to 
      eliminate a potential implantation failure due to aneuploidy in infertile 
      couples. Some studies clearly show that twins following single embryo transfer 
      (SET) can be the result of a concurrent natural conception and an incidence as 
      high as 1 in 5 twins has been reported. In our case PGS was performed on 
      trophectoderm (TE) biopsies by quantitative polymerase chain reaction (qPCR). The 
      product of conception (POC) was cytogenetically investigated after selection of 
      the placental villi by means of the direct method. Molecular cytogenetic 
      characterization of the POC was performed by fluorescence in situ hybridization 
      (FISH) and array-comparative genomic hybridization (a-CGH) analyses. To 
      investigate the possibility of a spontaneous conception, a panel of 40 single 
      nucleotide polymorphisms (SNPs) was used to compare genetic similarity between 
      the DNA of the POC and the DNA leftover of the TE biopsy. FINDINGS: We describe a 
      36-year old infertile woman undergoing PGS who had a spontaneous abortion after a 
      single euploid embryo transfer on a spontaneous cycle. The POC showed a 45,X 
      karyotype confirmed by FISH and a-CGH. DNA fingerprinting demonstrated a genetic 
      similarity of 75 % between the DNA of the POC and TE biopsy, consistent with a 
      sibling status. All supernumerary euploid embryos were also tested showing a 
      non-self relationship with the POC, excluding a mix-up event at the time of fetal 
      embryo transfer. CONCLUSIONS: DNA fingerprinting of the transferred blastocyst 
      and POC, confirmed the occurrence of a spontaneous conception. This case 
      challenges the assumption that a pregnancy after assisted reproductive technology 
      (ART) is always a result of ART, and strengthens the importance to avoid 
      intercourses during PGS and natural transfer cycles. Moreover, cytogenetic 
      analysis of the POCs is strongly recommended along with fingerprinting children 
      born after PGS to see what the concordance is between the embryo transferred and 
      the resultant child.
FAU - Bettio, Daniela
AU  - Bettio D
AUID- ORCID: 0000-0003-2843-9958
AD  - Cytogenetic and Medical Genetic Laboratory, Operative Unit of Clinical 
      Investigations, Humanitas Clinical and Research Center, Via Manzoni 56, 20089, 
      Rozzano, Milan, Italy. daniela.bettio@humanitas.it.
FAU - Capalbo, Antonio
AU  - Capalbo A
AD  - GENERA, Reproductive Medicine Centers, Rome, Italy.
AD  - GENETYX, Molecular Genetics Laboratory, Via Fermi 1, Marostica, Vicenza, Italy.
FAU - Albani, Elena
AU  - Albani E
AD  - Department of Gynecology, Division of Gynecology and Reproductive Medicine, 
      Fertility Center, Humanitas Clinical and Research Center, Via Manzoni 56, 
      Rozzano, Milan, Italy.
FAU - Rienzi, Laura
AU  - Rienzi L
AD  - GENERA, Reproductive Medicine Centers, Rome, Italy.
AD  - GENETYX, Molecular Genetics Laboratory, Via Fermi 1, Marostica, Vicenza, Italy.
FAU - Achille, Valentina
AU  - Achille V
AD  - Cytogenetic and Medical Genetic Laboratory, Operative Unit of Clinical 
      Investigations, Humanitas Clinical and Research Center, Via Manzoni 56, 20089, 
      Rozzano, Milan, Italy.
FAU - Venci, Anna
AU  - Venci A
AD  - Cytogenetic and Medical Genetic Laboratory, Operative Unit of Clinical 
      Investigations, Humanitas Clinical and Research Center, Via Manzoni 56, 20089, 
      Rozzano, Milan, Italy.
FAU - Ubaldi, Filippo Maria
AU  - Ubaldi FM
AD  - GENERA, Reproductive Medicine Centers, Rome, Italy.
AD  - GENETYX, Molecular Genetics Laboratory, Via Fermi 1, Marostica, Vicenza, Italy.
FAU - Levi Setti, Paolo Emanuele
AU  - Levi Setti PE
AD  - Department of Gynecology, Division of Gynecology and Reproductive Medicine, 
      Fertility Center, Humanitas Clinical and Research Center, Via Manzoni 56, 
      Rozzano, Milan, Italy.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160906
PL  - England
TA  - Reprod Biol Endocrinol
JT  - Reproductive biology and endocrinology : RB&E
JID - 101153627
SB  - IM
MH  - Abortion, Spontaneous/diagnosis/genetics/therapy
MH  - Adult
MH  - *Aneuploidy
MH  - DNA Fingerprinting/*methods
MH  - Embryo Transfer/*methods
MH  - Female
MH  - Fertilization/*genetics
MH  - Genetic Testing/*methods
MH  - Humans
MH  - Infertility, Female/diagnosis/genetics/therapy
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
PMC - PMC5011998
OTO - NOTNLM
OT  - Blastocyst transfer
OT  - Cytogenetics
OT  - PGS
OT  - POC
OT  - SNPs
EDAT- 2016/09/08 06:00
MHDA- 2017/03/25 06:00
PMCR- 2016/09/06
CRDT- 2016/09/08 06:00
PHST- 2016/07/01 00:00 [received]
PHST- 2016/08/25 00:00 [accepted]
PHST- 2016/09/08 06:00 [entrez]
PHST- 2016/09/08 06:00 [pubmed]
PHST- 2017/03/25 06:00 [medline]
PHST- 2016/09/06 00:00 [pmc-release]
AID - 10.1186/s12958-016-0190-9 [pii]
AID - 190 [pii]
AID - 10.1186/s12958-016-0190-9 [doi]
PST - epublish
SO  - Reprod Biol Endocrinol. 2016 Sep 6;14(1):55. doi: 10.1186/s12958-016-0190-9.