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Updated: May 23, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Chromosomal abnormalities in embryos from couples with a previous aneuploid miscarriage
Nasser Al-Asmar1, Vanessa Peinado, María Vera
1Preimplantation Genetic Diagnosis Unit, Iviomics, Paterna, Spain. nasser@iviomics.com
Couples with a history of aneuploid miscarriage have significantly higher rates of chromosomal abnormalities in preimplantation embryos. Preimplantation genetic screening (PGS) is recommended, especially for autosomal aneuploidies, to improve outcomes.
Area of Science:
- Reproductive Medicine
- Genetics
- Embryology
Background:
- Aneuploid miscarriage, resulting from abnormal chromosome numbers, can occur after natural conception (NC) or assisted reproductive technology (ART).
- Preimplantation genetic screening (PGS) analyzes embryo chromosomes before implantation to detect abnormalities.
Purpose of the Study:
- To compare chromosomal abnormality rates in preimplantation embryos from couples with a history of aneuploid miscarriage (from NC or ART) versus a control group.
- To evaluate the impact of previous aneuploidy type (autosomal vs. sex chromosome) on embryo chromosomal status.
Main Methods:
- Retrospective study conducted at an IVF clinic.
- Involved embryo biopsy and fluorescence in situ hybridization (FISH) for chromosomal analysis.
- Compared aneuploidy rates, pregnancy, and implantation rates in patient groups.
Main Results:
- Significantly higher rates of chromosomal abnormalities were found in embryos from couples with previous autosomal aneuploidy (67.8% NC, 65.8% ART) compared to controls (34.0%).
- No significant difference in chromosomal abnormalities was observed for previous sex chromosome abnormalities compared to controls.
- Clinical outcomes showed a positive trend in patients with previous autosomal aneuploidy after NC.
Conclusions:
- Couples with a history of aneuploid miscarriage, particularly autosomal aneuploidy, exhibit a higher incidence of chromosomal abnormalities in their preimplantation embryos.
- Preimplantation genetic screening (PGS) is recommended for these couples to identify and potentially avoid aneuploid embryos.
- The study highlights the importance of considering a patient's history of aneuploidy when offering genetic screening services.
More Related Videos
12:32Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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