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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Identification of chromosomal errors in human preimplantation embryos with oligonucleotide DNA microarray
Lifeng Liang1, Cassie T Wang, Xiaofang Sun
1Houston Fertility Institute, Houston, Texas, United States of America.
Plos One
|April 25, 2013
Summary
Oligonucleotide (oligo) microarray successfully screened human embryos for aneuploidy and other chromosomal abnormalities, leading to improved clinical pregnancy and implantation rates in infertility patients.
Area of Science:
- Reproductive Medicine
- Genetics
- Embryology
Background:
- Oligonucleotide (oligo) microarray platforms offer high performance for genetic analysis.
- Previous studies highlighted oligo microarray's effectiveness in evaluating genetic variations.
- Oligo microarray had not been previously utilized for aneuploidy screening in human embryos.
Purpose of the Study:
- To evaluate the efficacy of a high-resolution oligo microarray platform for preimplantation genetic screening (PGS) in human embryos.
- To assess the clinical outcomes, including pregnancy and implantation rates, following the transfer of euploid embryos identified by microarray analysis.
- To validate the accuracy of microarray results by comparing them with fluorescence in-situ hybridization (FISH) analysis.
Main Methods:
- Analysis of 383 human blastocysts from 72 patients using a 385K isothermal probe oligo microarray platform.
- Biopsy of blastocysts followed by microarray analysis to detect chromosomal abnormalities.
- Transfer of euploid blastocysts and monitoring of clinical pregnancy and implantation rates.
- FISH analysis of selected aneuploid blastocysts to confirm microarray findings.
Main Results:
- Over half (58.1%) of analyzed blastocysts exhibited chromosomal abnormalities, including aneuploidy and partial deletions/duplications.
- Clinical pregnancy and implantation rates of 58.8% and 54.4%, respectively, were achieved after transferring euploid embryos.
- Microarray results demonstrated high accuracy, with 100% concordance with FISH analysis in abnormal embryos.
Conclusions:
- High-resolution oligo microarray is effective for detecting both aneuploidy and sub-chromosomal abnormalities in human embryos.
- This advanced DNA microarray technology enables the selection of chromosomally normal embryos for transfer.
- PGS using oligo microarray can potentially improve embryo implantation rates and reproductive outcomes in infertile patients.
