title: Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations.
abstract: OBJECTIVE
  To report live birth rates (LBR) and total aneuploidy rates in a series of patients with balanced translocations who pursued in vitro fertilization (IVF)-preimplantation genetic diagnosis (PGD) cycles.
  
  
  METHODS
  Retrospective cohort analysis.
  
  
  METHODS
  Genetic testing reference laboratory.
  
  
  METHODS
  Seventy-four couples who underwent IVF-PGD due to a parental translocation.
  
  
  METHODS
  IVF cycles and embryo biopsies were performed by referring clinics. Biopsy samples were sent to a single reference lab for PGD for the translocation plus 24-chromosome aneuploidy screening with the use of a single-nucleotide polymorphism (SNP) microarray.
  
  
  METHODS
  LBR per biopsy cycle, aneuploidy rate, embryo transfer (ET) rate, miscarriage rate.
  
  
  RESULTS
  The LBR per IVF biopsy cycle was 38%. LBR for patients reaching ET was 52%. Clinical miscarriage rate was 10%. Despite a mean age of 33.8 years and mean of 7 embryos biopsied, there was a 30% chance for no chromosomally normal embryos. Maternal age >35 years, day 3 biopsy, and having fewer than five embryos available for biopsy increased the risk of no ET.
  
  
  CONCLUSIONS
  IVF-PGD for translocation and aneuploidy screening had good clinical outcomes. Patients carrying a balanced translocation who are considering IVF-PGD should be aware of the high risk of no ET, particularly in women ≥35 years old.
authors.affiliation: Department of Obstetrics and Gynecology, Kaiser Permanente Oakland Medical Center, Oakland, California. Electronic address: dennis.idowu.4@gmail.com.
authors.forename: Dennis
authors.initials: D
authors.lastname: Idowu
authors.affiliation: Natera, San Carlos, California.
authors.forename: Katrina
authors.initials: K
authors.lastname: Merrion
authors.affiliation: Natera, San Carlos, California.
authors.forename: Nina
authors.initials: N
authors.lastname: Wemmer
authors.affiliation: Natera, San Carlos, California.
authors.forename: Janine Gessner
authors.initials: JG
authors.lastname: Mash
authors.affiliation: Natera, San Carlos, California.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pettersen
authors.affiliation: Natera, San Carlos, California.
authors.forename: Dusan
authors.initials: D
authors.lastname: Kijacic
authors.affiliation: Department of Reproductive Endocrinology and Infertility, Stanford University, Palo Alto, California.
authors.forename: Ruth B
authors.initials: RB
authors.lastname: Lathi
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002877:Chromosomes, Human / Q000235:genetics / Q000378:metabolism; D020732:Cytogenetic Analysis / Q000379:methods; D004624:Embryo Transfer / Q000706:statistics & numerical data; D005191:Family Characteristics; D005260:Female; D005307:Fertilization in Vitro / Q000706:statistics & numerical data; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007246:Infertility / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D008423:Maternal Age; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology*; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D014178:Translocation, Genetic
keywords: Robertsonian translocation; aneuploidy; preimplantation genetic diagnosis (PGD); reciprocal translocation