Avoiding transmitting identified mutations to offspring using preimplantation genetic diagnosis.

Abstract:

BACKGROUND:Preimplantation genetic diagnosis has been used to decrease or avoid the risk of transmitting identified mutations to offspring. CASE:A 29-year-old woman with spondyloepiphyseal dysplasia congenita and her 30-year-old husband with Marfan syndrome underwent in vitro fertilization with preimplantation genetic diagnosis. Two mutation-negative embryos were transferred into a gestational carrier, who became pregnant with twins and delivered two clinically normal neonates. CONCLUSION:Statistically, this couple would be predicted to have a 75% chance of producing an affected embryo. Using preimplantation genetic diagnosis, two dually unaffected embryos were selected and transferred. This experience expands the use of preimplantation genetic diagnosis to cases with multiple autosomal dominant single-gene disorders.

journal_name

Obstet Gynecol

authors

Smith LP,Hughes MR,Thirumoorthi I,Proud VK,Penzias AS

doi

10.1097/AOG.0b013e3181c9b316

subject

Has Abstract

pub_date

2010-02-01 00:00:00

pages

460-462

issue

2 Pt 2

eissn

0029-7844

issn

1873-233X

pii

00006250-201002001-00024

journal_volume

115

pub_type

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