Preimplantation Genetic Testing

The PGT is performed on embryos created during an IVF cycle. By examining the genetic makeup of these embryos, PGT can detect abnormalities that may lead to implantation failure, miscarriage, or chromosomal abnormalities. This enables doctors to choose embryos with the highest likelihood of resulting in a successful pregnancy.

Benefits of PGT Testing:

• Improves IVF success rates.
• Reduces the risk of miscarriage.
• Helps in selecting embryos without genetic disorders.
• Increases the success of single embryo transfers.

PGT-A is a type of genetic test that examines the chromosomal material of IVF embryos before the transfer. It involves removing one or more cells from an embryo to test for numerical chromosomal abnormalities (aneuploidy). This helps ensure that only embryos with a normal number of chromosomes (euploid embryos) are selected for transfer. PGT-A testing can detect several chromosomal disorders, including:

• Down Syndrome (Trisomy 21): Presence of an extra chromosome 21.
• Turner Syndrome (Monosomy X): Missing one of the X chromosomes in females.
• Klinefelter Syndrome (XXY): Males with an extra X chromosome.
• Edwards Syndrome (Trisomy 18): Presence of an extra chromosome 18.
• Patau Syndrome (Trisomy 13): Presence of an extra chromosome 13.
• Other trisomies and monosomies that can increase the risk of implantation failure and miscarriage.
• Segmental Gains and Losses: Chromosomal segments (10 Mb), which can lead to abnormalities in the embryo.

• Higher success rates: PGT-A can increase the success rate of IVF cycles by selecting only chromosomally normal embryos for transfer.
• Fewer IVF cycles needed: Reduces the number of IVF cycles required to achieve a successful pregnancy.
• Reduces miscarriage risk: By identifying chromosomally normal embryos, the risk of pregnancy loss is reduced.
• Ideal for advanced maternal age: Women over 35 years benefit greatly as aneuploidies are more common in this age group.

PGT-A is typically done after fertilisation when the embryo is 3 to 5 days old. At this stage, there are enough cells to perform the test successfully.

PGT-M is a genetic test that screens for specific single-gene disorders in embryos during IVF. This test is particularly useful for couples who have a known history of genetic disorders or are carriers of single-gene disorders. By thoroughly screening embryos and selecting only those without genetic abnormalities, the transmission of genetic disorders to offspring can be effectively prevented.

PGT-M can detect a variety of single gene disorders, including:

• Cystic Fibrosis (CFTR)
• Sickle Cell Anemia (HBB)
• Spinal Muscular Atrophy (SMN)
• Duchenne Muscular Dystrophy (DMD)
• Acid Sphingomyelinase (SMPD1)
• Neurofibromatosis Type 1 (NF1)
• Any other genetic disorder

PGT-SR stands for preimplantation genetic testing for structural rearrangements. This type of genetic testing is used during IVF to screen embryos for structural chromosomal abnormalities. When the parents are carriers of abnormalities such as balanced translocations, these can include translocations, which can lead to infertility, miscarriage, or genetic disorders in offspring.

PGT-SR helps identify embryos with structural imbalances, such as:

• Segmental gains or losses.
• Other chromosomal abnormalities that may affect embryo viability.

Next-generation sequencing (NGS) is a cutting-edge technology that enhances the accuracy and reliability of PGT. Advantages of NGS in PGT:

• Rapid and convenient: NGS provides a quick and comprehensive analysis, offering faster results and reducing waiting times.
• High sensitivity and specificity: Detects aneuploidies and other chromosomal abnormalities with 100% sensitivity and 99.98% specificity, ensuring accurate results.
• Comprehensive screening: All 23 pairs of chromosomes can be analysed in a single test, providing a complete genetic overview.
• High resolution: Detects genetic changes greater than 10 Mb with high confidence, allowing for detailed and precise analysis.
• Economically efficient PGT test cost: Reduces PGT test cost and allows parallel analysis of multiple embryos in a single run, making it economically efficient.

MedGenome offers advanced and reliable PGT services. Here’s why patients prefer it:

• Robust sequencing technology: Uses advanced sequencing technology to provide highly sensitive and replicable results, ensuring accurate genetic analysis.
• Quick turnaround: Receive test results within 10 days, allowing for timely decision-making and treatment planning.
• End-to-end support: Provides comprehensive support from sample collection to genetic counselling, ensuring a seamless process for patients.
• Flexible options: Offers tailored solutions to meet individual needs without compromising on quality or accuracy.
• Accreditation: CAP proficiency testing passed, ensuring high quality and accuracy, meeting international standards.
• Efficient workflow: Streamlined processes from kit order to result, ensuring fast and accurate testing with minimal delays.