Preimplantation Genetic Testing (PGT) is a genetic screening procedure performed on embryos created through in vitro fertilization (IVF) before implantation. It helps identify genetic abnormalities to improve the chances of a successful pregnancy and reduce the risk of inherited disorders.
What is PGT for Embryos?
PGT involves testing embryos at the blastocyst stage (day 5–6) of development to identify genetic abnormalities before implantation. The types of PGT include:
PGT-A
Screens for an abnormal number of chromosomes (aneuploidy).
PGT-M
Detects specific genetic mutations linked to monogenic diseases.
PGT-SR
Examines structural rearrangements in chromosomes, such as translocations or inversions.
Types of Preimplantation Genetic Testing
PGT-A (Aneuploidy)
Screens for missing or extra chromosomes (monosomy or trisomy), such as Down syndrome (trisomy 21) or Turner syndrome (monosomy X). It is recommended for older women, those with recurrent miscarriages, or previous IVF failures.
PGT-M (Monogenic Diseases)
Detects single-gene mutations linked to cystic fibrosis, sickle cell anemia, muscular dystrophy, or BRCA1/2 mutations. It is essential for couples with a known risk of passing on a genetic condition.
PGT-SR (Structural Rearrangements)
Identifies chromosomal structural issues like translocations or inversions. Helps patients with recurrent pregnancy loss due to chromosomal abnormalities.
Who Should Consider PGT?
PGT is recommended for:
Couples with a family history of genetic disorders.
Women over 35, as maternal age increases the risk of genetic abnormalities.
Couples experiencing recurrent miscarriages or implantation failures.
Individuals or couples who are known carriers of genetic mutations.
Those with a history of chromosomal abnormalities in previous pregnancies.
Couples seeking family balancing or gender selection.
Mosaic Embryos and PGT
Mosaicism refers to embryos with both standard and abnormal cells. Mosaic embryos are classified as: Low-Level Mosaicism: 20%-40% abnormal cells. High-Level Mosaicism: 40%-70% abnormal cells.
Transferring mosaic embryos carries risks such as lower implantation rates and potential pregnancy complications. Genetic counseling is strongly advised before considering mosaic embryo transfer.
Benefits of PGT
PGT (Preimplantation Genetic Testing) improves IVF success rates by selecting genetically healthy embryos, reducing the risk of inherited disorders, miscarriages, and failed pregnancies.
Enhanced Success Rates
Identifies embryos most likely to implant and result in a healthy live birth.
Reduced Miscarriage Risk
It avoids transferring embryos with genetic abnormalities that could lead to pregnancy loss.
Family Planning
It helps couples plan for multiple pregnancies by identifying genetically normal embryos for future use.
Cost Effectiveness
Reduces the emotional and financial burden of repeated IVF cycles or failed pregnancies.
Family Balancing
Allows gender selection for family planning purposes when desired.
Improved Confidence
Knowing the embryo’s genetic health offers peace of mind to couples undergoing IVF.
Risks of PGT
Embryo Damage
The biopsy and freezing/thawing process may harm many embryos.
False Results
While highly accurate, PGT is not 100% reliable, with rare chances of misdiagnosis.
Ethical Considerations
Decisions about embryo selection and potential mosaic embryo transfer can be challenging.
Financial Costs
PGT adds additional costs to IVF cycles, but it can reduce long-term costs associated with repeated cycles or miscarriages.
Advances in PGT Technology
The Future of PGT Technology
Next-Generation Sequencing (NGS)
Offers superior accuracy and depth in genetic testing, allowing detection of subtle genetic abnormalities.
Timelapse Monitoring
Tracks embryo development in real-time, helping embryologists choose the best-quality embryos for biopsy.
Enhanced Mosaicism Analysis
Provides detailed insights into mosaic embryos, aiding in informed decision-making.
Why Choose PGT at Sakalli IVF?
At Sakalli IVF, we offer Preimplantation Genetic Testing (PGT) to help ensure the healthiest possible start for your future family. If you or your partner have a family history of genetic conditions — or simply seek peace of mind during IVF — genetic testing provides an advanced layer of reassurance. By analyzing the embryos’ chromosomes, we can reduce the risk of miscarriage, avoid inherited disorders, and increase the chances of a successful single embryo transfer.
Advanced Technology
We use cutting-edge techniques like next-generation sequencing (NGS) for accurate genetic analysis.
Experienced Specialists
Our team of genetic counselors and fertility specialists provides expert guidance tailored to each patient.
Comprehensive Care
From initial consultation to post-testing counseling, we support you every step of the way.
Personalized Solutions
We offer customized recommendations to maximize the success of your fertility journey.
Rebecca and Jeff’s Journey
Rebecca and Jeff, a couple in their late 30s, struggled with recurrent miscarriages. PGT revealed that only three out of their seven embryos were genetically normal. “PGT gave us the confidence to move forward,” Rebecca shares. “Knowing we transferred the healthiest embryo made all the difference.” Their first transfer resulted in a successful pregnancy.
Frequently Asked Questions
PGT is highly accurate but not infallible. Prenatal testing is recommended to confirm results.
Yes, PGT can determine embryo gender, allowing couples to choose the sex of their baby if desired.
Coverage varies; our team can help you explore financial options and programs to make treatment accessible.
Your specialist will discuss the next steps, including additional IVF cycles or donor gametes.
Testing and results typically take 1-2 weeks after the biopsy.
By identifying genetically normal embryos, PGT significantly improves the chances of successful implantation and a healthy live birth.
Mosaic embryo transfer carries risks like lower implantation rates and potential complications. Genetic counseling is essential before deciding on transfer.
