A Powerful and Universal Preimplantation Genetic Diagnosis Protocol for Cystic Fibrosis
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 C...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Book |
| Published: |
European Medical Journal,
2018-08-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | 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. |
|---|---|
| Item Description: | 2059-450X |