Birth of a Normal Girl after in Vitro Fertilization and Preimplantation Diagnostic Testing for Cystic Fibrosis

Abstract

Preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis is possible through in vitro fertilization, biopsy of a cleavage-stage embryo, and amplification of DNA from single embryonic cells. This approach should be equally applicable to other single-gene diseases in which the defect has been identified. Analysis of a series of pregnancies, however, will be required to assess the method adequately.

Current status of preimplantation diagnosis

“…The accuracy of diagnosis was higher in homozygous normal and affected blastomeres than in heterozy-gous blastomeres. The overall accuracy of PGD in this series was 91.5%, resulting in six homozygous unaffected healthy births (12)(13)(14).…”

Preimplantation genetic diagnosis: present and future

“…Soon after these early PGD cases, PCR-based protocols were developed for inherited diseases such as cystic fibrosis and α-1-antitrypsin. These tests involved the amplification of the DNA fragment which contained the causative mutation and its detection using mutation analysis techniques [4,5].…”

Diagnostic prénatal et diagnostic pré-implantatoire : arbre décisionnel, nouvelles pratiques ?

“…Les progrès techniques ont ensuite permis la réalisation du premier DPI de mucoviscidose en 1992 [2] qui a donné naissance au concept du « bébé du double espoir ». Les décrets ne sont pourtant pas publiés un an après, ce qui pose de difficiles problèmes pour les couples en attente.…”