What is Embryo Biopsy for PGS/PGD?
Embryo biopsy is a specialized procedure used during in vitro fertilization (IVF) to extract a few cells from an embryo for genetic testing. This testing helps identify chromosomal abnormalities or specific genetic disorders before the embryo is implanted into the uterus. The two main types of genetic testing performed after an embryo biopsy are Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD). PGS is used to screen for chromosomal abnormalities, while PGD is focused on detecting specific inherited genetic conditions.
By performing an embryo biopsy for PGS or PGD, fertility specialists can select embryos that are free of genetic disorders or chromosomal abnormalities, improving the chances of a healthy pregnancy and reducing the risk of miscarriage or genetic conditions. This technique is particularly beneficial for couples with a history of genetic diseases, recurrent miscarriages, or women of advanced maternal age.
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When is Embryo Biopsy for PGS/PGD Recommended?
Embryo biopsy for PGS or PGD is recommended in specific situations where genetic risks are a concern. Some common reasons for opting for these procedures include:
- Advanced Maternal Age: Women over the age of 35 are more likely to produce embryos with chromosomal abnormalities, increasing the risk of miscarriage or birth defects. PGS helps screen embryos to ensure chromosomal normalcy.
- Recurrent Miscarriages: Couples who have experienced multiple miscarriages may benefit from PGS to identify chromosomally normal embryos for transfer.
- History of Genetic Disorders: Couples with a family history of genetic diseases such as cystic fibrosis, Tay-Sachs disease, or Huntington’s disease may opt for PGD to prevent the transmission of these disorders to their child.
- Unexplained Infertility: PGS can help identify if chromosomal abnormalities are contributing to infertility, allowing for the selection of healthier embryos for transfer.
- Failed IVF Cycles: PGS can be useful for couples who have had repeated failed IVF attempts, as chromosomal abnormalities may be the underlying cause.
- Male Factor Infertility: Men with severe sperm abnormalities may produce embryos with chromosomal issues, and PGS can help ensure that only normal embryos are selected.
What are the Steps Involved in an Embryo Biopsy for PGS/PGD?
IVF and Embryo Development
Before an embryo biopsy can be performed, the female partner undergoes the standard IVF process, which includes ovarian stimulation, egg retrieval, and fertilization of the eggs with sperm. Once fertilization occurs, the embryos are allowed to develop in the lab for several days, typically reaching the blastocyst stage (around day 5 or 6).
Biopsy Procedure
When the embryo reaches the blastocyst stage, a small biopsy is performed. Using a high-powered microscope and specialized instruments, an embryologist carefully removes a few cells from the trophectoderm (the outer layer of the embryo, which will later form the placenta). This procedure is non-invasive to the inner cells that will develop into the fetus and does not harm the embryo’s viability.
Genetic Testing
Once the cells are biopsied, they are sent to a genetic laboratory for analysis. For PGS, the lab screens the cells for chromosomal abnormalities such as aneuploidy (the presence of too few or too many chromosomes). For PGD, the cells are analyzed for specific genetic mutations or conditions based on the couple’s medical history or known genetic risks.
Embryo Freezing
After the biopsy, the embryos are frozen (cryopreserved) while awaiting the results of the genetic testing. This allows for a more flexible and less time-sensitive transfer, giving the fertility specialist time to review the results and plan the transfer of the healthiest embryos in a future cycle.
Embryo Transfer
Once the PGS or PGD results are available, the fertility specialist will select the healthiest, chromosomally normal embryos (in the case of PGS) or the embryos free of genetic disorders (in the case of PGD) for transfer. The embryo transfer is a simple procedure in which the selected embryo is placed into the woman’s uterus, where it can implant and grow into a healthy pregnancy.
How Do PGS and PGD Differ?
Preimplantation Genetic Screening (PGS)
PGS is used to screen embryos for chromosomal abnormalities, such as aneuploidy (extra or missing chromosomes), which can lead to conditions like Down syndrome, Edwards syndrome, or Turner syndrome. PGS provides a broad overview of the chromosomal health of an embryo, helping to identify embryos with the correct number of chromosomes for transfer. This is particularly useful for older women, couples with unexplained infertility, or those with multiple IVF failures.
Preimplantation Genetic Diagnosis (PGD)
PGD is a more targeted genetic test used to screen embryos for specific inherited genetic disorders. It is recommended for couples who are carriers of single-gene disorders or have a family history of genetic conditions, such as cystic fibrosis, muscular dystrophy, or sickle cell anemia. PGD allows for the identification of embryos that are free from the specific genetic disorder, helping prevent the transmission of these diseases to the next generation.
What are the Benefits of Embryo Biopsy for PGS/PGD? The primary benefit of embryo biopsy for PGS or PGD is the ability to select the healthiest embryos for transfer, improving the chances of a successful pregnancy and reducing the risk of genetic abnormalities. Some of the key benefits include:
• Increased Pregnancy Success Rates: By selecting embryos that are chromosomally normal, PGS can significantly improve the chances of a successful pregnancy and reduce the likelihood of miscarriage.
• Reduced Risk of Genetic Disorders: PGD helps prevent the transmission of specific genetic conditions, giving couples the peace of mind that their child will not inherit a serious genetic disease.
• Fewer IVF Cycles: Since PGS and PGD allow for the selection of the healthiest embryos, the need for multiple IVF cycles may be reduced, saving time, money, and emotional strain.
• Improved Pregnancy Outcomes: Embryo biopsy increases the likelihood of achieving a healthy pregnancy, leading to better outcomes for both mother and baby.
Get in Touch to Learn More About Embryo Biopsy for PGS/PGD
If you are considering embryo biopsy for PGS or PGD as part of your fertility treatment, our team of experts is here to guide you through the process. We offer personalized consultations to help determine whether genetic testing is right for your situation. Call us at +91 9599754455 or fill out the contact form below to schedule an appointment and take the next step toward a healthy pregnancy.
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KIC Delfinium Fertility Centre
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