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Updated: Sep 13, 2025

Human Blastocyst Biopsy and Vitrification
Published on: July 26, 2019
Association Between Human Embryo Culture Conditions, Cryopreservation, and the Potential Risk of Birth Defects in
Romualdo Sciorio1, Luca Tramontano2, Giuseppe Gullo3
1Fertility Medicine and Gynaecological Endocrinology Unit, Department Woman Mother Child, Lausanne University Hospital, 1011 Lausanne, Switzerland.
Assisted reproduction technology (ART) has improved outcomes but may pose risks. This review maps evidence on ART-related birth defects and epigenetic changes in offspring.
Area of Science:
- Reproductive medicine and developmental biology.
Background:
- Assisted reproduction technology (ART) has advanced significantly, improving pregnancy rates and reducing multiple births through better embryonic culture.
- In vitro embryo culture conditions differ from the dynamic in vivo environment, potentially impacting development.
- ART procedures like ovarian stimulation, in vitro fertilization, and cryopreservation may influence crucial epigenetic reprogramming during early embryogenesis.
Purpose of the Study:
- To map the existing evidence on potential risks associated with ART, focusing on birth defects and epigenetic outcomes in offspring.
- To identify gaps in the literature regarding the long-term health implications of ART procedures.
Main Methods:
- A scoping review was conducted following the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines.
- The review systematically searched and synthesized evidence on ART-related risks, including epigenetic alterations and birth defect rates.
Main Results:
- ART has led to over 10 million births globally, with most children being healthy.
- Concerns persist regarding potential birth defects and developmental changes linked to ART procedures, including gamete/embryo handling and in vitro culture conditions.
- The influence of ART on critical epigenetic reprogramming during preimplantation development and its long-term consequences for offspring health require further investigation.
Conclusions:
- While ART has been highly successful, ongoing research is necessary to fully understand and mitigate potential risks to offspring.
- Further studies are needed to clarify the relationship between ART, epigenetic modifications, and the incidence of birth defects.
- Ensuring the long-term health and safety of children conceived via ART remains a critical area of focus for reproductive medicine.
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