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The Genetics of Embryo

المتحدث: Dr Chandan N

Clinical Embryology Scientist, Director Lanka institute of Embryology and Andrology Training, Colombo Scientific Director for Aikya Fertility center and Aikya Embryology Training, Banglore

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وصف

Embryo genetics is a fascinating field of study that seeks to understand the genetic basis of human development from conception to birth. In this webinar, we will explore the latest research on embryo genetics and its applications in assisted reproduction, genetic counseling, and prenatal diagnosis. We will discuss the various techniques used to study embryo genetics, including preimplantation genetic testing, whole genome sequencing, and single-cell sequencing. We will also delve into the ethical and social implications of embryo genetic testing and explore the ways in which this technology can be used to promote healthy pregnancies and prevent genetic diseases. Embryo genetics is a fascinating field of study that seeks to understand the genetic basis of human development from conception to birth. In this webinar, we will explore the latest research on embryo genetics and its applications in assisted reproduction, genetic counseling, and prenatal diagnosis. We will discuss the various techniques used to study embryo genetics, including preimplantation genetic testing, whole genome sequencing, and single-cell sequencing. We will also delve into the ethical and social implications of embryo genetic testing and explore the ways in which this technology can be used to promote healthy pregnancies and prevent genetic diseases.

ملخص

  • The presentation emphasizes the crucial role of embryogenetics in successful embryology, discussing how genetic factors in sperm and oocytes contribute to embryo quality. Genetic abnormalities can lead to miscarriages or abnormal babies, posing challenges for embryologists aiming to produce healthy offspring. Mutations in fertility have increased significantly in recent decades, impacting fertility rates globally.
  • Sperm morphology, analyzed according to WHO standards, is a key indicator of sperm quality and potential genetic integrity. Normal sperm morphology, count, and motility are essential for fertilization and successful pregnancy, and deviations can indicate potential genetic issues. Specialized sperm selection methods like PICSI, based on hyaluronic acid binding, aim to identify sperm with better DNA quality, although these are not foolproof.
  • PICSI involves selecting sperm that bind to a hyaluronic acid medium, mimicking the natural fertilization process and theoretically choosing sperm with higher DNA integrity. MACS (magnetic activated cell sorting) is another technique used to identify and remove sperm undergoing apoptosis, thus selecting for sperm with better viability and genetic health. Microfluidic sperm sorting is another technique, though the impact on sperm genetic quality isn't as prominent as PICSI and MACS.
  • Oocyte morphology also plays a vital role in embryo health, with ideal oocytes having a specific size range, a light-colored zona pellucida, and a clear polar body without fragmentation. Dysmorphic oocytes and those with polar body defects are more likely to have genetic abnormalities. After fertilization, the presence of two polar bodies and two pronuclei indicates normal genetic material; any deviation suggests a potentially abnormal embryo. Giant oocytes and those with smooth endoplasmic reticulum (SER) also indicate abnormal development.
  • Pre-implantation genetic screening (PGS) and pre-implantation genetic diagnosis (PGD) are crucial for identifying genetically stable embryos. PGS screens for chromosomal abnormalities like aneuploidy, while PGD diagnoses specific genetic diseases based on family history and genetic counseling. Embryo biopsy techniques, including polar body biopsy, zygote biopsy, and blastomere biopsy, are used to obtain genetic material for testing, but day 5 blastocyst biopsies offer the most accurate results.
  • Day 5 blastocyst biopsies minimize self-correction issues, providing a more reliable assessment of the embryo's genetic status. NGS (next-generation sequencing) is used for accurate DNA analysis, with a nearly 99% success rate. Mosaicism, the presence of both normal and abnormal cells in an embryo, can sometimes lead to false positive or negative results in biopsy analysis, underscoring the inherent limitations of these screening methods.

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