Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol.

ABSTRACT:

Background

Preimplantation genetic screening (PGS) has been used in an attempt to determine embryonic aneuploidy. Techniques that use new molecular methods to determine the karyotype of an embryo are expanding the scope of PGS.

Methods

We introduce a new method for PGS, termed 'parental support', which leverages microarray measurements from parental DNA to 'clean' single-cell microarray measurements on embryonic cells and explicitly computes confidence in each copy number call. The method distinguishes mitotic and meiotic copy errors and determines parental source of aneuploidy.

Results

Validation with 459 single cells of known karyotype indicated that per-cell false-positive and false-negative rates are roughly equivalent to the 'gold standard' metaphase karyotype. T

SUBMITTER: Johnson DS 

PROVIDER: S-EPMC2839907 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature