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Cystic fibrosis mutation screening before assisted reproduction
1Liverpool Women's Hospital, Crown Street, Liverpool L8 7SS, UK. gazvani@hotmail.com
International Journal of Andrology
|January 14, 2004
Summary
Cystic fibrosis (CF) screening is recommended for men with congenital bilateral absence of the vas deferens (CBAVD) and azoospermia. This helps identify risks for CF in offspring before fertility treatments like intracytoplasmic sperm injection (ICSI).
Area of Science:
- Genetics
- Reproductive Medicine
- Medical Screening
Background:
- Cystic fibrosis (CF) is a common autosomal recessive disorder in Caucasians.
- Congenital bilateral absence of the vas deferens (CBAVD) affects 97-98% of men with CF, causing azoospermia.
- CF gene mutations are responsible for approximately 10% of congenital obstructive azoospermia cases.
Purpose of the Study:
- To highlight the importance of CF screening in men with CBAVD and azoospermia of unknown origin.
- To inform couples undergoing assisted reproductive technologies about the elevated risk of CF in their offspring.
- To emphasize the necessity of genetic counseling for affected couples.
Main Methods:
- Review of existing literature on CF, CBAVD, and azoospermia.
- Analysis of the genetic link between CF gene mutations and male infertility.
- Discussion of screening protocols and genetic counseling strategies.
Main Results:
- CBAVD is a strong indicator of CF in men with azoospermia.
- CF gene mutations are a significant cause of obstructive azoospermia.
- Couples seeking fertility treatments face an increased risk of having offspring with CF.
Conclusions:
- CF screening should be considered for men with CBAVD prior to intracytoplasmic sperm injection (ICSI).
- Men with unexplained azoospermia should also undergo CF screening.
- Comprehensive genetic counseling is crucial for couples to understand and manage the risk of CF transmission.
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