Carrier screening and PGT for an autosomal recessive monogenic disorder: insights from virtual trials.

ABSTRACT:

Purpose

To assess the costs and benefits of carrier screening and preimplantation genetic testing (PGT) for recessive autosomal monogenic disorders for couples attempting assisted conception.

Methods

A simulated first full cycle for women less than 35 years transferring embryos one at a time. The effect of testing on pregnancy outcomes was evaluated for different reporting scenarios. A Monte Carlo method utilising 1000 trials for 10,000 couples, testing 4, 16 and 38 genes, was used to assess the numbers likely to be at high risk and to estimate the incremental cost of screening and PGT to avoid an affected child.

Results

PGT for high-risk couples: testing embryos only for the monogenic condition avoided 1 affected pregnancy for 4 cycles started. Combined with testing

SUBMITTER: Scriven PN 

PROVIDER: S-EPMC8956760 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature