Many patients encounter genetic concerns during IVF, which is why we use Pre-Implantation Genetic Testing (PGT) to address them.
PGD/PGS/PGT-A
PGD/PGS/PGT-A: A boon for couples with genetic issues
What is Pre-implantation Genetic Testing ?
Generally, PGT is comprised of two procedures:
- PGS- preimplantation genetic screening
- PGD-preimplantation genetic diagnosis
The procedures are distinct from each other but are often used interchangeably.
What is PGD/PGS/PGT-A?
Preimplantation Genetic Testing (PGT) is a procedure used to identify congenital defects or conditions in embryos before implantation during an IVF cycle. This allows embryologists to distinguish healthy embryos from those with abnormalities, increasing the chances of a successful pregnancy and a healthy baby.
PGD (Preimplantation Genetic Diagnosis) is particularly useful for couples with a known family history of serious or life-threatening genetic disorders. It helps prevent the transmission of these conditions to the offspring, especially in cases involving single-gene disorders.
PGS (Preimplantation Genetic Screening) focuses on checking whether an embryo has the correct number of chromosomes. Embryos with chromosomal abnormalities, especially common as maternal age increases, often lead to failed implantation or miscarriage. PGS can also be beneficial in cases of recurrent pregnancy loss or severe male factor infertility.
PGT-A (Preimplantation Genetic Testing for Aneuploidy) is a more advanced form of screening that ensures only chromosomally normal embryos are selected for transfer.
It’s important to note that PGT cannot be used for sex selection.
Overall, PGD/PGS/PGT-A provide reassurance to couples at genetic risk and improve the likelihood of a healthy pregnancy. A thorough consultation with a fertility expert is essential to determine whether this approach is suitable for your situation.
Uses of PGD/PGS/PGT-A
PGT proves to be a valuable tool in addressing infertility issues in either partner. Its primary goal is to screen and select chromosomally normal embryos in the lab, which are then implanted into the female partner’s uterus to improve the chances of a successful pregnancy. Several factors influence a woman’s ability to conceive, with egg quality, age, and overall reproductive health being key contributors. Even after a previously failed pregnancy, the use of PGT can offer a 60-70% chance of achieving a successful outcome.
Other Uses of PGD/PGS/PGT-A
PGT serves as a vital diagnostic tool for preventing the inheritance of known genetic disorders, particularly in individuals or populations with a higher risk of congenital abnormalities.
It plays a significant role in minimizing the emotional burden of early miscarriages and repeated IVF failures, and is especially helpful in cases involving advanced maternal age. PGT-M, in particular, safeguards the unborn child from inherited single-gene disorders. It can also be utilized in “savior sibling” cases to treat certain blood-related conditions in an affected child.
In essence, integrating PGT into assisted reproductive technologies (ART) can significantly improve outcomes. However, it must be applied responsibly, with a clear understanding of its capabilities and limitations.
The Benefits of PGT-A (formerly PGS)
PGT-A benefits include:
Increased conception rates: PGT-A aids in the identification of embryos with the appropriate number of chromosomes, which are more likely to implant in the uterus.
Reduced miscarriage rates: PGT-A can detect embryos that are more prone to miscarry.
Reduced risk of multiple pregnancy: PGT-A can help minimize the risk of twin pregnancy.
Reduced risk of genetic conditions: PGT-A can assist in identifying embryos that may result in an infant with genetic issues.
Time and expense saving: PGT-A can help achieve a successful pregnancy in a single round, saving time and money over multiple IVF cycles.
PGT-A and PGT-M: What is the Difference?
Preimplantation Genetic Testing for Aneuploidy (PGT-A) focuses on identifying chromosomal abnormalities in embryos, while PGT-M detects specific gene mutations that cause inherited diseases.
PGT-A examines whether embryos have the correct number of chromosomes. A healthy embryo typically has 46 chromosomes – two copies each of chromosomes 1 to 22, along with XX for females or XY for males. Any deviation, such as missing or extra chromosomes, can affect the embryo’s viability, development, or ability to implant successfully.
In rare cases, embryos with certain chromosomal abnormalities can still lead to a pregnancy but may result in health conditions. For instance, an extra copy of chromosome 21 leads to Down Syndrome, while Turner Syndrome results from the absence of one X chromosome in females.
Preimplantation Genetic Testing Procеss
Initial Consultation: A fertility specialist discusses the PGT process and its suitability for the patient.
Ovarian Stimulation: Medications are administered to stimulate the ovaries to produce multiple eggs.
Fertilization: Retrieved eggs are fertilized with sperm in the lab to form embryos.
Embryo Development: The embryos are cultured until they reach the blastocyst stage.
Biopsy: A few cells are carefully extracted from each embryo for testing.
Genetic Testing: The biopsied cells undergo genetic screening to identify any abnormalities.
Embryo Selection: Genetically normal embryos are selected for transfer into the uterus.
Fast Facts:
To minimize the risk of genetic disorders
To screen for single-gene inherited conditions
With customized test planning and setup
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