Genetic Confidence, Family Strength

PRE-IMPLANTATION GENETIC TESTING

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PGT-A

🔬 What is PGT-A Testing?

Preimplantation Genetic Testing for Aneuploidy (PGT-A), previously known as Preimplantation Genetic Screening (PGS), is a powerful genetic screening tool used in conjunction with In Vitro Fertilization (IVF). The primary goal of PGT-A is to identify which embryos have the correct number of chromosomes—a condition known as euploidy—before they are transferred to the uterus.

🔬Why is PGT-A Important?

Every human cell should typically have 46 chromosomes (23 pairs). An embryo with a missing or extra chromosome is called aneuploid, and this is a common occurrence, particularly as the age of the egg provider increases. Aneuploidy is a leading cause of:

  • Failed embryo implantation

  • Miscarriage (pregnancy loss)

  • Genetic conditions in a live-born child (like Down syndrome, which is Trisomy 21—an extra copy of chromosome 21).

By screening for these chromosomal abnormalities, PGT-A helps us select the most genetically normal embryos, which can increase the chance of a successful pregnancy and a healthy live birth.

🔬How PGT-A Testing Can Help a Family

Reduce Risk of Genetic Disorders

PGT-A lowers the risk of having a child with a chromosomal condition like Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), or Patau syndrome (Trisomy 13). This provides families with greater assurance about the genetic health of their future child.

Increase Chance of Successful Implantation

By identifying and transferring only euploid (chromosomally normal) embryos, PGT-A dramatically improves the likelihood that the embryo will implant in the uterus and develop into a pregnancy. This is especially beneficial for women of advanced maternal age, who have a higher incidence of aneuploid embryos.

Reduce Risk of Miscarriage

Chromosomal abnormalities are a leading cause of early miscarriage. By screening out aneuploid embryos, PGT-A helps to avoid transfers that are destined to fail, thereby reducing the emotional and physical toll of recurrent miscarriages.

Fewer IVF Cycles and Faster Time to Pregnancy

By selecting the most viable embryos, PGT-A can lead to fewer embryo transfers needed to achieve a pregnancy. This can shorten the overall time to conception and reduce the financial and emotional burden associated with multiple failed IVF cycles.

Emotional Well-being

For couples who have experienced previous miscarriages or failed IVF attempts, or who are anxious about genetic conditions, PGT-A can offer a significant degree of peace of mind and hope, knowing they have done everything possible to select the healthiest embryo.

🔬What PGT-A Testing CANNOT do

It Cannot Detect Specific Genetic Diseases

PGT-A only screens for the quantity of chromosomes (aneuploidy). It does not look at the quality of the genes themselves.

  • No Single-Gene Screening: It cannot detect conditions like Cystic Fibrosis, Sickle Cell Anemia, or Huntington’s Disease. 

  • No Structural Rearrangements: It typically cannot detect balanced translocations or inversions unless they result in a gain or loss of genetic material. 

It Cannot "Fix" or Improve Embryos

A common misconception is that PGT-A improves embryo quality.

  • election, Not Correction: PGT-A is a “ranking” tool. It helps identify which embryo has the best chance of implanting, but it cannot repair an abnormal embryo or turn a low-grade embryo into a high-grade one.

  • No Increase in Cumulative Live Birth Rate: While it may increase the success rate per transfer, it does not increase the total number of babies a patient can have from a single egg retrieval. In fact, due to the risk of false positives, it could potentially decrease the cumulative rate if viable embryos are discarded.

It Cannot Guarantee a Healthy Baby or Pregnancy

Even with a “euploid” (chromosomally normal) result, PGT-A does not offer a 100% guarantee.

  • Non-Chromosomal Issues: It cannot screen for birth defects unrelated to chromosome count (e.g., heart defects, cleft palate) or developmental/autism spectrum disorders.

  • Pregnancy Complications: It does not prevent issues like gestational diabetes, preeclampsia, or placental abruption.

  • Implantation Failure: A euploid embryo may still fail to implant due to uterine factors, hormonal imbalances, or laboratory variables.

Technical and Biological Limitations

  • The Mosaicism Dilemma: PGT-A biopsies cells from the trophectoderm (future placenta), not the inner cell mass (future fetus). An embryo may be “mosaic,” meaning it has a mix of normal and abnormal cells. The biopsy might not accurately represent the entire embryo.

  • False Positives/Negatives: No PGT-A platform is 100% accurate. There is a small margin of error where a normal embryo is labeled abnormal or vice versa.

  • Risk of Damage: Although low, the biopsy and the required cryopreservation (freezing/thawing) process carry a small risk of damaging the embryo.

Who Is Recommended for PGT-A Testing

  • Advanced Maternal Age
  • Couple with many failed IVF cycles
  • Couples with infertility concerns
  • Couples with a family history of chromosomal abnormalities
  • Couples with recurrent miscarriages
  • Couples undergoing IVF treatment for other reasons

Why Choose Gene on Link Laboratory

Most Advanced Sequencer

Gene on Link Laboratory is equipped with Illumina’s newest sequencer—the MiSeq i100 Plus—which provides highly stable and reliable sequencing data.

Robust Testing Platform

Gene on Link Laboratory utilizes the most robust testing kits, validated with more than 100,000 embryos. The kit also minimizes hands-on time, which helps significantly reduce operational errors.

Robust Testing Platform

Gene on Link Laboratory utilizes the most robust testing kits, validated with more than 100,000 embryos. The kit also minimizes hands-on time, which helps significantly reduce operational errors.

Robust Testing Platform

Gene on Link Laboratory utilizes the most robust testing kits, validated with more than 100,000 embryos. The kit also minimizes hands-on time, which helps significantly reduce operational errors.

Short Turnaround Time

We understand that every day during the IVF process is both important and challenging for every family. Therefore, Geneo on Link laboratory offers one of the shortest turnaround times in the industry, with reports available in as little as 24 hours.