A Powerful and Universal Preimplantation Genetic Diagnosis Protocol for Cystic Fibrosis-Reference-Cited by-同舟云学术

A Powerful and Universal Preimplantation Genetic Diagnosis Protocol for Cystic Fibrosis

Published:2018-08-16 Issue: Volume: Page:83-87
ISSN:2059-450X
Container-title:EMJ Reproductive Health
language:
Short-container-title:EMJ Repro Health

Author:

Viart Victoria¹,Ishmukhametova Aliya¹,Plaza Stéphanie¹,Verrière Garance¹,Saguet Florielle¹,Claustres Mireille²,Girardet Anne²

Affiliation:

1. Laboratoire de Génétique Moléculaire, CHU Montpellier, Hôpital Arnaud de Villeneuve, Montpellier, France

2. Laboratoire de Génétique Moléculaire, CHU Montpellier, Hôpital Arnaud de Villeneuve, Montpellier, France; Laboratoire de Génétique de Maladies Rares, Université de Montpellier, Montpellier, France

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.

Publisher

European Medical Group

Subject

General Medicine

Reference16 articles.

1. Handyside AH et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768-70.

2. Girardet A et al. Thirteen years’ experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service. Reprod Biomed Online. 2018;36(2):154-63.

3. Handyside AH et al. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med. 1992;327(13):905-9.

4. Ray PF et al. Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice. Prenat Diagn. 1998;18(13):1402-12.

5. Moutou C et al. Duplex, triplex and quadruplex PCR for the preimplantation genetic diagnosis (PGD) of cystic fibrosis (CF), an exhaustive approach. Prenat Diagn. 2004;24(7):562-9.