CFTR mutation screening in an assisted reproductive clinic
Peter D Field1, Nicole J Martin
1Queensland Fertility Group Genetics, Level 1 Watkins Medical Centre, 225 Wickham Terrace, Brisbane, QLD, Australia. peter.field@qfg.com.au
The Australian & New Zealand Journal of Obstetrics & Gynaecology
|August 31, 2011
Summary
Cystic fibrosis carrier screening in infertile patients revealed an elevated carrier rate of 1 in 21.5. Preconception screening for CFTR mutations is recommended for all patients undergoing assisted reproductive technology.
Area of Science:
- Genetics
- Reproductive Medicine
- Medical Diagnostics
Background:
- Cystic fibrosis (CF) is a common single-gene recessive disorder caused by CF transmembrane receptor (CFTR) gene mutations.
- CFTR mutations lead to diverse clinical manifestations, including pulmonary, pancreatic, and reproductive issues.
- Preconception screening for CFTR mutations reduces CF incidence and offers reproductive choices like PGD.
Purpose of the Study:
- To screen infertility patients for 30 common CFTR mutations.
- To identify CFTR carriers before initiating assisted reproductive treatment (ART).
Main Methods:
- DNA screening of 5600 infertility patients using a PCR/OLA kit for 30 CFTR mutations.
- Offered genetic counseling to identified carriers and carrier couples.
- Provided prenatal testing and PGD options for CFTR mutations to carrier couples.
Main Results:
- Identified 261 CFTR carriers among 5600 patients, an increased carrier rate of 1 in 21.5 (4.66%).
- The R117H/c.350G>A mutation was significantly prevalent in this infertile population.
- Detected 12 carrier couples, with 9 undergoing PGD for CFTR mutations.
Conclusions:
- The carrier rate for CFTR mutations is higher in patients seeking infertility treatment.
- Preconception screening for CFTR mutations should be standard practice for ART candidates.
