title: Female cystic fibrosis mutation carriers and assisted reproductive technology: does carrier status affect reproductive outcomes?
abstract: OBJECTIVE
  To evaluate the association between female cystic fibrosis (CF) carrier status and in vitro fertilization (IVF) response and outcomes. The presence of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in male carriers has been associated with infertility, yet possible adverse effects on the ovarian function and reproductive outcomes of female carriers have not been studied to date.
  
  
  METHODS
  Retrospective cohort study.
  
  
  METHODS
  Private academic, clinical reproductive center.
  
  
  METHODS
  Females<40 years of age who were screened for CFTR mutations and received IVF treatment between July 2002 and March 2013.
  
  
  METHODS
  Patients initiated controlled ovarian hyperstimulation with frequent monitoring, vaginal oocyte retrieval, fertilization, embryo transfer, and a pregnancy test. Various measures of IVF stimulation response and cycle outcome were evaluated for both carriers and noncarriers.
  
  
  METHODS
  Analysis was performed by logistic regression and Poisson regression.
  
  
  RESULTS
  IVF cycles (n=199) from CFTR mutation carrier patients (n=112) were analyzed. No significant differences in outcome were noted when carriers of different mutation loci were compared in aggregate with the noncarrier group (n=6,420 cycles from 3,555 patients). Significant differences were noted for some metrics when the carriers were grouped by mutation loci.
  
  
  CONCLUSIONS
  Overall, no significant differences in stimulation response and cycle outcome were noted between female CFTR mutation carriers and noncarriers. Further research is needed to investigate whether the differences noted between specific CFTR mutation loci are clinically relevant and whether CFTR mutations may impact reproductive outcomes outside the context of assisted reproductive technologies.
authors.affiliation: Reproductive Medicine Associates of New York, New York, New York; Obstetrics, Gynecology and Reproductive Science, Mount Sinai School of Medicine, New York, New York. Electronic address: tvanwort@rmany.com.
authors.forename: Teresa A
authors.initials: TA
authors.lastname: VanWort
authors.affiliation: Reproductive Medicine Associates of New York, New York, New York.
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Lee
authors.affiliation: Celmatix Inc., New York, New York.
authors.forename: Hrishikesh
authors.initials: H
authors.lastname: Karvir
authors.affiliation: Reproductive Medicine Associates of New York, New York, New York.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Whitehouse
authors.affiliation: Celmatix Inc., New York, New York.
authors.forename: Piraye Yurttas
authors.initials: PY
authors.lastname: Beim
authors.affiliation: Reproductive Medicine Associates of New York, New York, New York; Obstetrics, Gynecology and Reproductive Science, Mount Sinai School of Medicine, New York, New York.
authors.forename: Alan B
authors.initials: AB
authors.lastname: Copperman
mesh_terms: D000328:Adult; D015331:Cohort Studies; D015897:Comorbidity; D003550:Cystic Fibrosis / Q000453:epidemiology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005307:Fertilization in Vitro / Q000706:statistics & numerical data*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D009154:Mutation / Q000235:genetics; D009518:New York / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology* / Q000235:genetics*; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Cystic fibrosis; female fertility; heterozygote; in vitro fertilization; ovarian function