title: Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome.
abstract: OBJECTIVE
  To use preimplantation genetic diagnosis to achieve Smith-Lemli-Opitz syndrome -free pregnancies in two couples at high risk of producing an affected child.
  
  
  METHODS
  Case report.
  
  
  METHODS
  A private IVF unit.
  
  
  METHODS
  Two couples carrying the W151X mutation in the DHCR7 gene.
  
  
  METHODS
  Removal and testing for the W151X mutation in blastomeres from embryos after standard IVF.
  
  
  METHODS
  DNA analysis of blastomeres indicating whether corresponding embryos were mutation-free, for the purpose of transferring only unaffected embryos.
  
  
  RESULTS
  Delivery of healthy children without the W151X mutation in the DHCR7 gene.
  
  
  CONCLUSIONS
  This is the first report of preimplantation genetic diagnosis for Smith-Lemli-Opitz syndrome, allowing transfer of mutation-free embryos and successful pregnancies.
authors.affiliation: INVICTA Fertility and Reproductive Center, Institute of Obstetrics and Gynecology, Medical University of Gdansk, Gdansk, Poland. Joanna.Liss@invicta.pl
authors.forename: Joanna
authors.initials: J
authors.lastname: Liss
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Lukaszuk
authors.forename: Anna
authors.initials: A
authors.lastname: Bruszczyńska
authors.forename: Zofia
authors.initials: Z
authors.lastname: Szczerkowska
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Rebala
mesh_terms: D002585:Cesarean Section; D004624:Embryo Transfer; D005260:Female; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D050498:Live Birth; D008297:Male; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D011247:Pregnancy; D011272:Pregnancy, Multiple; D019836:Preimplantation Diagnosis; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000517:prevention & control; D020554:Sperm Injections, Intracytoplasmic; D014427:Twins
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase