title: Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome.
abstract: OBJECTIVE
  To describe a method of amplifying DNA from blastocyst trophectoderm cells (two or three cells) and simultaneously performing 23-chromosome single nucleotide polymorphism microarrays and single-gene preimplantation genetic diagnosis.
  
  
  METHODS
  Case report.
  
  
  METHODS
  IVF clinic and preimplantation genetic diagnostic centers.
  
  
  METHODS
  A 36-year-old woman, gravida 2, para 1011, and her husband who both were carriers of GM(1) gangliosidosis. The couple wished to proceed with microarray analysis for aneuploidy detection coupled with DNA sequencing for GM(1) gangliosidosis.
  
  
  METHODS
  An IVF cycle was performed. Ten blastocyst-stage embryos underwent trophectoderm biopsy. Twenty-three-chromosome microarray analysis for aneuploidy and specific DNA sequencing for GM(1) gangliosidosis mutations were performed.
  
  
  METHODS
  Viable pregnancy.
  
  
  RESULTS
  After testing, elective single embryo transfer was performed followed by an intrauterine pregnancy with documented fetal cardiac activity by ultrasound.
  
  
  CONCLUSIONS
  Twenty-three-chromosome microarray analysis for aneuploidy detection and single-gene evaluation via specific DNA sequencing and linkage analysis are used for preimplantation diagnosis for single-gene disorders and aneuploidy. Because of the minimal amount of genetic material obtained from the day 3 to 5 embryos (up to 6 pg), these modalities have been used in isolation of each other. The use of preimplantation genetic diagnosis for aneuploidy coupled with testing for single-gene disorders via trophectoderm biopsy is a novel approach to maximize pregnancy outcomes. Although further investigation is warranted, preimplantation genetic diagnosis for aneuploidy and single-gene testing seem destined to be used increasingly to optimize ultimate pregnancy success.
authors.affiliation: Department of Gynecology and Obstetrics, Johns Hopkins University, Baltimore, MD 20193, USA. pbrezin1@jhmi.edu
authors.forename: Paul R
authors.initials: PR
authors.lastname: Brezina
authors.forename: Andrew
authors.initials: A
authors.lastname: Benner
authors.forename: Svetlana
authors.initials: S
authors.lastname: Rechitsky
authors.forename: Anver
authors.initials: A
authors.lastname: Kuliev
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Pomerantseva
authors.forename: Dana
authors.initials: D
authors.lastname: Pauling
authors.forename: William G
authors.initials: WG
authors.lastname: Kearns
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002138:Calibration; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000517:prevention & control; D006801:Humans; D046228:Microarray Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000235:genetics*; D019836:Preimplantation Diagnosis / Q000379:methods* / Q000592:standards