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Embryo Biopsy for PGS/PGD

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    Dr Shivani Sachdev Gour

    MBBS, MD – Obstetrics & Gynaecology, DNB – Obstetrics & Gynecology, Infertility Specialist

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    Embryo-Biopsy

    What is Embryo Biopsy for PGS/PGD?

    Embryo Biopsy is an advanced fertility technique in which a few cells are carefully removed from an embryo for genetic testing before implantation. This test helps determine whether the embryo has the correct number of chromosomes (PGS) or specific genetic disorders (PGD).

    • PGS (Preimplantation Genetic Screening) checks for chromosomal abnormalities like Down syndrome or Turner syndrome.
    • PGD (Preimplantation Genetic Diagnosis) screens for inherited genetic diseases such as thalassemia, cystic fibrosis, or Huntington’s disease.

    At SCI IVF Hospital, under the guidance of Dr. Shivani Sachdev Gour, embryo biopsy with PGS/PGD is offered to improve the chances of a healthy pregnancy, especially for couples with recurrent miscarriages, failed IVF cycles, or known genetic disorders.

    Why is Embryo Biopsy Done?

    Embryo biopsy with PGS/PGD is recommended in the following situations:

    1. Recurrent pregnancy loss due to chromosomal abnormalities.

    2. Multiple failed IVF cycles with unknown causes.

    3. Advanced maternal age (usually above 35), where the risk of chromosomal abnormalities increases.

    4. Male factor infertility leading to poor sperm quality and abnormal embryos.

    5. Couples who are known carriers of genetic disorders, such as:

      • Thalassemia
      • Muscular dystrophy
      • Cystic fibrosis
      • Sickle cell anemia

    6. Sex-linked genetic conditions where selecting embryo sex can avoid disease transmission.

    How to Prepare for Embryo Biopsy

    Before planning PGS/PGD, the couple must:

    • Undergo genetic counseling to understand hereditary risks.
    • Get carrier screening tests to identify any mutations or genetic diseases.
    • Plan for an IVF cycle, as embryo biopsy is only possible with lab-created embryos.
    • Discuss the ethical, emotional, and financial aspects of the process.

    Once these are done, your fertility expert will guide you through the IVF and embryo testing procedure.

    Embryo Biopsy Procedure Step-by-Step

    1. IVF Cycle and Embryo Formation
      The first step involves a routine IVF cycle where eggs are retrieved, fertilized with sperm, and allowed to develop into embryos over 5-6 days.

    2. Embryo Culture till Blastocyst Stage
      Embryos are grown to the blastocyst stage (Day 5 or 6) when they have 100+ cells. This allows for better biopsy accuracy and embryo development monitoring.

    3. Trophectoderm Biopsy
      A few cells (5–7) are safely removed from the outer layer (trophectoderm) of the blastocyst. This layer eventually forms the placenta, while the inner mass becomes the fetus.

    4. Vitrification (Freezing) of Embryo
      After biopsy, the embryos are cryopreserved using ultra-rapid freezing. This keeps them safe until genetic test results are available.

    5. Genetic Testing (PGS/PGD)
      The biopsied cells are sent to a specialized lab for:

      • PGS: Testing for aneuploidy (chromosome count).
      • PGD: Testing for specific inherited mutations. Results are available within 1–2 weeks.

    6. Embryo Transfer
      Only chromosomally normal and disease-free embryos are selected and transferred into the uterus in a subsequent cycle.

    Benefits of Embryo Biopsy with PGS/PGD

    • Increased IVF Success Rate by selecting healthy embryos.
    • Lower risk of miscarriage due to chromosomal abnormalities.
    • Elimination of inherited diseases in high-risk couples.
    • Improved implantation rate with genetically normal embryos.
    • Sex selection for preventing sex-linked genetic diseases (as allowed by law).

    Risks and Limitations

    • Embryo damage risk: Very rare when performed by skilled embryologists.
    • Not all embryos survive to blastocyst stage, reducing the testing pool.
    • Emotional and ethical concerns around embryo selection.
    • Cost-intensive: Genetic testing and freezing procedures add to the IVF cost.
    • False negatives/positives, though rare, are possible.

    Results

    After genetic testing, embryos are categorized as:
    • Normal (Euploid) – Fit for transfer.
    • Abnormal (Aneuploid) – Discarded or not used.
    • Mosaic – Having both normal and abnormal cells, decision made case by case.

    Once a healthy embryo is selected, it is transferred in a natural or hormone-controlled cycle. A pregnancy test is done 12–14 days after embryo transfer.

    Why Choose SCI IVF Hospital for PGS/PGD?

    At SCI IVF Hospital, Dr. Shivani Sachdev Gour and her expert team ensure:

    • Accurate embryo biopsy with advanced laser techniques.
    • Tie-ups with leading genetic labs for precise reporting.
    • Individualized IVF and genetic testing plans.
    • High success rate in IVF cycles with PGS/PGD.

    Contact Us Today

    Begin your journey to parenthood with expert care.
    Consult with Dr. Shivani Sachdev Gour at SCI IVF Hospital today!

    📧 Email: sciivfhospitalindia@gmail.com
    📱 Call/WhatsApp:     +91-8882563400