A Powerful and Universal Preimplantation Genetic Diagnosis Protocol for Cystic Fibrosis

Abstract

Background: Cystic fibrosis (CF) is one of the most common indications of preimplantation genetic diagnosis (PGD) for monogenic disorders worldwide. Aims: The aim of this article was to report a universal and powerful assay easily applicable to all couples requesting PGD for CF irrespective of the CFTR variants involved, in line with recently published CF-PGD guidelines. Results: A multiplex PCR protocol was developed including the study of the c.1521_1523del mutation with 12 closely linked polymorphic markers. Preliminary workup was performed for 53 couples and the protocol was clinically applied to 31 couples. All couples were informative for 7–12 markers. Of the 31 couples who initiated a PGD stimulation cycle, 17 couples had a baby. Therefore, the take-home baby rate was 60.7% per couple with an embryo transfer (17 out of 28 couples). Conclusion: This robust, simple, and reliable procedure should allow any couple at risk of transmitting CF to enrol in a PGD programme.

Keywords

• cftr
• cystic fibrosis (cf)
• preimplantation genetic diagnosis (pgd)
• short tandem repeats (str)
• single cell