title: Preimplantation genetic diagnosis for fetal neonatal alloimmune thrombocytopenia due to antihuman platelet antigen maternal antibodies.
abstract: OBJECTIVE
  To develop a reliable preimplantation genetic diagnosis protocol for antihuman platelet antigen-1 incompatibility for a family in whom antenatal treatment was not possible because of the mother's hypersensitivity to intravenous immunoglobulin (IVIG).
  
  
  METHODS
  Haplotypes were constructed from genomic DNA of the family members. A polymerase chain reaction protocol that included eight microsatellite polymorphic markers and the ITGB3-specific (T196C, rs5918) polymorphism were multiplexed to be used in a single cell protocol, and single blastomeres were analyzed.
  
  
  RESULTS
  In one preimplantation genetic diagnosis cycle, out of 28 retrieved oocytes, 24 embryos fertilized and 12 underwent biopsy. Three embryos were found to be antihuman platelet antigen-1b/1b homozygotes and two were transferred. This cycle resulted in an uneventful pregnancy and birth of a healthy child.
  
  
  CONCLUSIONS
  In cases in which there is antihuman platelet antigen incompatibility and IVIG cannot be administered, preimplantation genetic diagnosis is a reliable alternative to enable birth of unaffected children.
authors.affiliation: Medical Genetics Institute, ZOHAR Preimplantation Genetic Diagnosis Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem, Israel. gheona@szmc.org.il
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
authors.forename: T
authors.initials: T
authors.lastname: Eldar-Geva
authors.forename: T Eldar
authors.initials: TE
authors.lastname: Geva
authors.forename: Sorina
authors.initials: S
authors.lastname: Grisaru-Granovsky
authors.forename: Lilach
authors.initials: L
authors.lastname: Bonstein
authors.forename: Hagit
authors.initials: H
authors.lastname: Miskin
authors.forename: Irit
authors.initials: I
authors.lastname: Varshver
authors.forename: Ehud J
authors.initials: EJ
authors.lastname: Margalioth
authors.forename: Ephrat
authors.initials: E
authors.lastname: Levy-Lahad
authors.forename: Paul
authors.initials: P
authors.lastname: Renbaum
mesh_terms: D000328:Adult; D016824:Antigens, Human Platelet / Q000235:genetics* / Q000276:immunology; D000075202:Contraindications; D005260:Female; D005307:Fertilization in Vitro; D005820:Genetic Testing; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006967:Hypersensitivity; D016756:Immunoglobulins, Intravenous / Q000276:immunology; D007231:Infant, Newborn; D039661:Integrin beta3 / Q000235:genetics*; D050498:Live Birth; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D054098:Thrombocytopenia, Neonatal Alloimmune / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control
chemical_list: D016824:Antigens, Human Platelet; C061248:ITGB3 protein, human; D016756:Immunoglobulins, Intravenous; D039661:Integrin beta3