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Preimplantation Genetic Testing (PGT)

Preimplantation Genetic Testing (PGT) is a cutting-edge reproductive technology used during the in vitro fertilization (IVF) process to assess embryos for genetic abnormalities before they are transferred to the uterus. PGT enables the selection of embryos that are free from specific genetic disorders, chromosomal abnormalities, or aneuploidies, increasing the likelihood of a successful pregnancy and reducing the risk of genetic diseases in offspring.

When is PGT recommended?

Preimplantation Genetic Testing (PGT) may be recommended in various scenarios to individuals or couples undergoing in vitro fertilization (IVF) treatment. Here are some common situations in which PGT may be recommended:

Women of advanced maternal age (typically 35 years or older) have an increased risk of producing eggs with chromosomal abnormalities, leading to higher rates of miscarriage and genetic disorders in offspring. PGT-A may be recommended to screen embryos for aneuploidy and select chromosomally normal embryos for transfer, thereby improving the chances of a successful pregnancy.
Couples who have experienced recurrent pregnancy loss (multiple miscarriages) may undergo PGT to identify embryos with chromosomal abnormalities or genetic factors contributing to miscarriage. PGT-A or PGT-M may be recommended depending on the specific circumstances.
Couples with severe male factor infertility, such as low sperm count, poor sperm motility, or abnormal sperm morphology, may opt for PGT to reduce the risk of transmitting genetic abnormalities or chromosomal defects to offspring. PGT-A may be recommended to select embryos with the best chance of implantation and pregnancy.
Couples with known genetic disorders, such as cystic fibrosis, sickle cell anemia, Huntington's disease, or chromosomal rearrangements, may choose to undergo PGT-M or PGT-SR to identify embryos free from the specific genetic mutation or chromosomal abnormality. PGT allows for the selection of unaffected embryos for transfer, reducing the risk of passing on genetic disorders to offspring.
Couples who have undergone multiple unsuccessful IVF cycles or experienced recurrent implantation failure may consider PGT to identify potential reasons for treatment failure. PGT-A can help identify embryos with chromosomal abnormalities that may have contributed to implantation failure or miscarriage, guiding future treatment decisions.

TYPES OF PGT

Preimplantation Genetic Testing (PGT) encompasses several types of genetic screening methods used during the in vitro fertilization (IVF) process to assess embryos for specific genetic abnormalities or chromosomal disorders.

PGT-A (Aneuploidy Screening)

PGT-A screens embryos for aneuploidies, which are abnormal numbers of chromosomes. Aneuploidies can lead to conditions such as Down syndrome and are a common cause of implantation failure, miscarriage, and chromosomal disorders.

PGT-M (Monogenic Disorder Screening)

PGT-M is used to detect specific genetic mutations or monogenic disorders, such as cystic fibrosis, sickle cell anemia, or Huntington's disease. It allows couples at risk of passing on inherited genetic conditions to select embryos that are unaffected.

PGT-SR (Structural Rearrangement Screening)

GT-SR is used for couples with structural chromosomal rearrangements, such as translocations or inversions, which can increase the risk of miscarriage or chromosomal abnormalities in offspring. PGT-SR helps identify embryos with balanced chromosomal.

Ovarian Stimulation and Egg Retrieval

  • The PGT process begins with ovarian stimulation, where the woman undergoes hormonal medications to stimulate the ovaries to produce multiple eggs.
  • During ovarian stimulation, the woman's response is monitored closely through ultrasound scans and hormonal blood tests.
  • Once the eggs reach optimal maturity, a trigger shot of human chorionic gonadotropin (hCG) is administered to induce final egg maturation.
  • Approximately 36 hours later, the eggs are retrieved from the woman's ovaries using a minimally invasive surgical procedure called transvaginal ultrasound-guided egg retrieval.
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Fertilization and Embryo Culture

  • The retrieved eggs are then fertilized with sperm in the laboratory using either conventional insemination (mixing sperm and eggs together) or intracytoplasmic sperm injection (ICSI), where a single sperm is injected into each mature egg.
  • After fertilization, the embryos are cultured in a laboratory incubator under carefully controlled conditions for several days (typically 5-6 days) until they reach the blastocyst stage.
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Embryo Biopsy

  • Once the embryos reach the blastocyst stage, a small number of cells (usually 5-10 cells) are biopsied from each embryo for genetic analysis.
  • The biopsy can be performed either by removing a few cells from the trophectoderm (outer cell layer) of the blastocyst or by performing a blastomere biopsy at the cleavage stage (day 3 after fertilization).
  • The biopsied cells are carefully removed from the embryo using specialized micromanipulation techniques, such as laser-assisted biopsy or mechanical aspiration.
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Genetic Analysis

  • The biopsied cells are then analyzed in a specialized genetics laboratory using techniques such as polymerase chain reaction (PCR), fluorescent in situ hybridization (FISH), array comparative genomic hybridization (aCGH), or next-generation sequencing (NGS).
  • PGT-A analyzes the chromosomal content of embryos to identify aneuploidies (abnormal numbers of chromosomes).
  • PGT-M detects specific genetic mutations or monogenic disorders within embryos.
  • PGT-SR identifies chromosomal rearrangements, such as translocations or inversions, in embryos.
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Embryo Transfer

  • Based on the results of PGT, genetically normal embryos are selected for transfer to the woman's uterus.
  • The selected embryos are transferred into the woman's uterus using a thin catheter inserted through the cervix, typically on day 5 or 6 after fertilization.
  • Any remaining viable embryos may be cryopreserved (frozen) for future use.
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Pregnancy Testing and Follow-Up

  • Approximately 10-14 days after embryo transfer, the woman undergoes a blood test to measure the levels of beta-hCG (pregnancy hormone) to determine if pregnancy has occurred.
  • If the pregnancy test is positive, ongoing monitoring and follow-up with a fertility specialist or obstetrician are conducted to monitor the progress of the pregnancy
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OI-TI WITH Maya IVF!

PGT is a highly specialised creening and treatment process, where precision of treatment is as critical as availability of state- of- the- art equipments to ensure success.

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