title: Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens.
abstract: OBJECTIVE
  To evaluate intracytoplasmic sperm injection (ICSI) results with regard to congenital bilateral absence of vas deferens (CBAVD) versus non-CBAVD obstruction, cystic fibrosis transmembrane-conductance regulator (CFTR) mutations versus non-CFTR mutations, and miscarriages or stillbirths versus live births per embryo transferred.
  
  
  METHODS
  Retrospective study with detailed chart review.
  
  
  METHODS
  Center for reproductive medicine.
  
  
  METHODS
  Nine hundred forty-five men with obstructive azoospermia.
  
  
  METHODS
  One thousand four hundred fourteen ICSI cycles classified as CBAVD versus non-CBAVD obstruction, CFTR mutations versus non-CFTR mutations, and miscarriages/stillbirths versus live births per embryo transferred.
  
  
  METHODS
  Frequency of CFTR mutations and rates of fertilization, good embryos, clinical pregnancy, miscarriages and stillbirths, ectopic pregnancy, and live births.
  
  
  RESULTS
  CFTR mutations were more prevalent in men with CBAVD than in those with non-CBAVD obstruction. The rate of miscarriages and stillbirths per embryo transferred was higher in men with CBAVD than in those with non-CBAVD obstruction, whereas the rate of live births per embryo transferred was lower in men with CBAVD than in those with non-CBAVD obstruction. The rate of miscarriages and stillbirths per embryo transferred was higher in men with CFTR mutations than in those with non-CFTR mutations. The frequency of CFTR mutations was higher in patients who experienced miscarriages/stillbirths than in those with live births.
  
  
  CONCLUSIONS
  The frequency of CFTR mutations was higher in cases of CBAVD versus non-CBAVD obstruction. Possibly as a result of CFTR mutations, patients with CBAVD had a significantly increased risk of miscarriage and stillbirth and a reduced rate of live birth compared with patients with non-CBAVD.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, People's Republic of China.
authors.forename: Shaoming
authors.initials: S
authors.lastname: Lu
authors.affiliation: Department of Urology, The Fourth People's Hospital of Jinan, Jinan, Shandong, People's Republic of China.
authors.forename: Yanyi
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, People's Republic of China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Li
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, People's Republic of China.
authors.forename: Haobo
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, People's Republic of China.
authors.forename: Jiaolong
authors.initials: J
authors.lastname: Liu
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, People's Republic of China.
authors.forename: Bin
authors.initials: B
authors.lastname: Kong
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, People's Republic of China.
authors.forename: Feifei
authors.initials: F
authors.lastname: Cai
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, People's Republic of China. Electronic address: sdsznk@yahoo.com.
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics* / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D052801:Male Urogenital Diseases / Q000235:genetics* / Q000628:therapy; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D018873:Pregnancy Rate / Q000639:trends*; D012189:Retrospective Studies; D020554:Sperm Injections, Intracytoplasmic / Q000639:trends*; D016896:Treatment Outcome; D014649:Vas Deferens / Q000002:abnormalities*; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Intracytoplasmic sperm injection; congenital bilateral absence of vas deferens; cystic fibrosis transmembrane-conductance regulator gene; obstructive azoospermia; pregnancy