Carriers of cystic fibrosis among sperm donors: complete CFTR gene analysis versus CFTR genotyping

We recommend the complete sequencing of the CFTR gene by next generation sequencing as a screening method for cystic fibrosis in semen donors. Many mutations would be missed by using genotype testing.

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VOLUME 114, ISSUE 3, P524-534

Authors:

Marta Molina, M.Sc., Alberto Yoldi, Ph.D., Purificacion Navas, Ph.D., Miguel Gañán, B.Sc., Angel Vaquero, B.Sc., Jose L. del Pico, A.Sc., Juan P. Ramírez, Ph.D., and Jose A. Castilla, M.D., Ph.D.

Abstract:

Objective

To determine the frequency of cystic fibrosis (CF) carriers among sperm donors in Spain studied through a complete analysis of the CFTR gene and to compare the results with those that would have been obtained by the 4 genotyping panels of the CFTR gene most commonly used as a carrier test in the context of assisted reproduction in our country.


Design

Descriptive observational study.


Setting

Private center.


Patients

Nine hundred thirty-five sperm donors, from January 2014 to June 2019.


Intervention

None.


Main Outcome Measure

Presence of pathogenic variants in the CFTR gene.


Results

17% of the donors were carriers of at least 1 pathogenic variant in CFTR, with 39 different pathogenic variants detected. Only 4 of these 39 variants (10.27%) would have been detected by the 4 genotyping tests considered, and 22 variants (56.41%) would not have been detected by any of the genotyping tests. The pathogenic variants of the CFTR gene included in the different genotyping tests analyzed vary widely, and <50% are common to all of them.


Conclusions

Although the was not based in the general population, these results show that the use of genotyping tests is associated with a high reproductive risk, because the rate of detection of CF carriers was lower when these panels were applied, in comparison with the complete study of the CFTR gene. We recommend that complete sequencing of the CFTR gene by next-generation sequencing be performed as a screening method for CF in sperm donors.

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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