Preimplantation genetic testing for Huntington disease: the perspective of one Portuguese center.

ABSTRACT:

Background

Huntington disease (HD) is an autosomal dominant late-onset neurodegenerative disease caused by an unstable cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin (HTT) gene. Preimplantation genetic testing (PGT) is a diagnostic procedure available for these individuals, because they carry a high risk of transmitting this genetic condition to their offspring.

Methods

Information about 15 HD couples referred for PGT and 21 cycles performed from 2009 to 2018 was collected retrospectively. PGT provide direct testing of embryos obtained after intracytoplasmic sperm injection, using polymerase chain reaction multiplex as the genetic testing protocol.

Results

PGT for HD was performed in 15 couples, with no history of previous attempts, i

SUBMITTER: Ferreira D 

PROVIDER: S-EPMC6924977 | biostudies-literature | 2019 Sep-Oct

REPOSITORIES: biostudies-literature