title: [Analysis of prenatal diagnosis for seven high-risk fetuses with Wiskott-Aldrich syndrome].
abstract: OBJECTIVE
  To investigate the value of gene analysis of amniotic fluid exfoliated cells and WASP detection from cord blood in prenatal diagnosis of high-risk fetus with Wiskott-Aldrich syndrome.
  
  
  METHODS
  Seven patients with Wiskott-Aldrich syndrome were diagnosed by gene analysis and WASP detected by flow cytometry from 2008 to 2010. After detailed inquiry for medical history and gene analysis of related family members, seven pedigree trees were drawn, including 15 carriers of abnormal genes. From 2008 to 2011, seven samples of amniotic cell gotten by amniocentesis were collected from seven high-risk pregnant women with abnormal gene during 18 to 20 gestational weeks. WASP gene was amplified by polymerase chain reaction (PCR) from DNA of amniotic cell gotten and sequencing was performed directly on the PCR products forward and reversely. Embryo blood sample was collected from one high-risk fetus by needle puncture of umbilical blood vessel and WASP expression was detected by flow cytometry. Karyotyping was performed in amniotic cell gotten cultivated by orthotopic slice and G band staining. Gene analysis of WASP, WASP expression detected by flow cytometry and evaluation of immune function were reexamined in high-risk fetus after delivery.
  
  
  RESULTS
  Amniocentesis and culture of amniotic cell succeeded in all the seven fetuses. Gene analysis and karyotyping showed that one male fetus and four female fetuses were normal and two female fetuses were carriers. WASP expression detected from embryo blood sample of the patient was normal. After delivery, the result of gene analysis, WASP detection and evaluation of immune function was the same as that of prenatal diagnosis.
  
  
  CONCLUSIONS
  Karyotyping, gene analysis and WASP detection of cord blood can provide reliable service of prenatal diagnosis for high-risk pregnant women with Wiskott-Aldrich syndrome.
authors.affiliation: Children's Hospital of Chongqing Medical University, Chongqing, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhao
authors.forename: Zhi-yong
authors.initials: ZY
authors.lastname: Zhang
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Zhao
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Jiang
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhao
authors.forename: Xi-qiang
authors.initials: XQ
authors.lastname: Yang
mesh_terms: D000649:Amniocentesis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005434:Flow Cytometry; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis* / Q000235:genetics; D051316:Wiskott-Aldrich Syndrome Protein / Q000097:blood / Q000235:genetics
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein