title: Outcomes of preimplantation genetic diagnosis in neurofibromatosis type 1.
abstract: OBJECTIVE
  To examine the effect of patient and facility level factors on the success of preimplantation genetic diagnosis (PGD) in patients with neurofibromatosis 1 (NF1).
  
  
  METHODS
  Retrospective review.
  
  
  METHODS
  Large PGD reference laboratory.
  
  
  METHODS
  All patients with NF1 referred from June 2004 to May 2013.
  
  
  METHODS
  None.
  
  
  METHODS
  Embryos' NF1 mutation status and live birth rates.
  
  
  RESULTS
  Seventy-seven couples underwent 156 PGD cycles during the study period. The average maternal age at the time of embryo biopsy was 33.2 years. The majority of embryos had a day 3 single blastomere biopsy without aneuploidy screening. A diagnosis was obtained for 80% of biopsied embryos; 20% of biopsies were nondiagnostic due to technical failures. Diagnosis was more often obtained for embryos of parents with familial disease and for embryos biopsied at centers that referred multiple NF1 cases. Among diagnosed embryos, 483/1,060 (46%) were unaffected by the parental NF1 mutation. Twenty-two (14%) of the 156 cycles had a confirmed live birth; if the observed success rate is applied to cycles with unknown outcomes, 33/156 (21%) cycles are expected to have resulted in live birth. In multivariate logistic regression, having a live birth was significantly associated with having more unaffected embryos available for transfer (odds ratio 1.33 per additional embryo, 95% confidence interval 1.02-1.72).
  
  
  CONCLUSIONS
  Advances in biopsy and diagnostic techniques which increase the number of unaffected embryos identified may improve live birth rates for patients with NF1. Clinicians should counsel patients about their fertility and reproductive options early, with the use of disease-specific data, to set appropriate expectations for the PGD process.
authors.affiliation: Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Vanessa L
authors.initials: VL
authors.lastname: Merker
authors.affiliation: Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Timothy P
authors.initials: TP
authors.lastname: Murphy
authors.affiliation: Genesis Genetics, Plymouth, Michigan.
authors.forename: J Bryan
authors.initials: JB
authors.lastname: Hughes
authors.affiliation: Biostatistics Center, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Alona
authors.initials: A
authors.lastname: Muzikansky
authors.affiliation: Genesis Genetics, Plymouth, Michigan.
authors.forename: Mark R
authors.initials: MR
authors.lastname: Hughes
authors.affiliation: Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Irene
authors.initials: I
authors.lastname: Souter
authors.affiliation: Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts. Electronic address: splotkin@mgh.harvard.edu.
authors.forename: Scott R
authors.initials: SR
authors.lastname: Plotkin
mesh_terms: D000328:Adult; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007231:Infant, Newborn; D050498:Live Birth / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000453:epidemiology*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology*; D011256:Pregnancy Outcome / Q000453:epidemiology*; D019836:Preimplantation Diagnosis / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D055815:Young Adult
keywords: NF1; PGD; fertility; genetic counseling; in vitro fertilization; pregnancy