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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Idiopathic recurrent miscarriage is caused mostly by aneuploid embryos.
Brooke Hodes-Wertz1, Jamie Grifo, Shahin Ghadir
1NYU Fertility Center, New York, New York, USA.
Fertility and Sterility
|June 12, 2012
Summary
Preimplantation genetic screening (PGS) significantly reduces miscarriage rates in patients with recurrent pregnancy loss (RPL). This suggests that chromosomal abnormalities in embryos are a primary cause of RPL, improving pregnancy outcomes.
Area of Science:
- Reproductive Medicine
- Human Genetics
- Embryology
Background:
- Idiopathic recurrent pregnancy loss (RPL) affects couples with two or more pregnancy losses.
- Chromosomal abnormalities in embryos are suspected contributors to RPL.
- Preimplantation genetic screening (PGS) aims to identify viable embryos for transfer.
Purpose of the Study:
- To evaluate the efficacy of PGS using array comparative genomic hybridization (aCGH) in idiopathic RPL patients.
- To compare miscarriage rates in PGS-treated RPL patients with expected rates.
Main Methods:
- A case series involving 287 cycles from couples with idiopathic RPL across multiple fertility centers.
- Embryo biopsy performed on day 3 (193 cycles) or at the blastocyst stage (94 cycles).
- Analysis of embryo chromosomal content using aCGH to determine euploidy rates.
Main Results:
- Analysis of 2,282 embryos revealed 35% euploidy and 60% aneuploidy rates.
- In 181 embryo transfer cycles, 100 resulted in pregnancy (55%), with a 45% implantation rate.
- A significantly reduced miscarriage rate of 6.9% was observed, compared to expected rates of 33.5% (RPL controls) and 23.7% (infertile controls).
Conclusions:
- PGS with aCGH demonstrates a substantial reduction in miscarriage rates for idiopathic RPL patients.
- High pregnancy and ongoing pregnancy rates were achieved in the study cohort.
- The findings strongly suggest that embryonic chromosomal abnormalities are a major cause of idiopathic recurrent miscarriage.
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