Understanding Preimplantation Genetic Testing (PGT-A & PGT-M) in IVF

Preimplantation Genetic Testing is an advanced technique used in IVF to screen embryos for chromosomal abnormalities and single gene defects before transfer.

Understanding Preimplantation Genetic Testing (PGT-A & PGT-M) in IVF
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Preimplantation Genetic Testing is an advanced technique used in IVF to screen embryos for chromosomal abnormalities and single gene defects before transfer. At Sama, we frequently use Genomic Prediction, a leading company in embryo genetic testing, to help ensure the highest chances of success for our patients.

Indications for PGT-A

While PGT-A may not be necessary for all IVF cycles, it is particularly recommended for:
  • Women of Advanced Maternal Age (35+): As women age, the likelihood of chromosomal abnormalities in eggs increases, which raises the risk of miscarriage or genetic disorders. PGT-A helps identify chromosomally normal (euploid) embryos for transfer.
  • Couples with Recurrent Pregnancy Loss: For couples who have experienced multiple miscarriages, PGT-A can help determine whether chromosomal abnormalities in embryos are a contributing factor.
  • Family History of Genetic Disorders: For individuals with a family history of genetic diseases, PGT-A can help select embryos with the correct number of chromosomes to reduce the risk of passing on certain conditions.
  • Previous IVF Failures: Patients who have undergone multiple unsuccessful IVF cycles may benefit from PGT-A to ensure that only healthy embryos are selected for transfer.
  • Male Factor Infertility: In cases of compromised sperm quality, PGT-A can screen embryos for chromosomal issues potentially caused by abnormal sperm.

The Process of Preimplantation Genetic Testing (PGT-A)

Here’s what happens during the PGT-A process:
  1. Embryo Development: After eggs are retrieved and fertilized, embryos are cultured for 5 to 6 days until they reach the blastocyst stage.
  1. Embryo Biopsy: At the blastocyst stage, a small number of cells are taken from the outer layer of the embryo (the trophectoderm), which will form the placenta. This biopsy does not harm the embryo and provides enough genetic material for analysis.
  1. Sending the Sample to the Lab: The biopsy samples are sent to a genetic testing lab like Genomic Prediction for analysis. Meanwhile, the embryos are frozen until test results are available.
  1. Turnaround Time: Genetic testing results are typically returned within 3 weeks. Once the results are in, your fertility team will review the findings with you to guide the next steps in your IVF treatment.

Understanding the Results: Euploid, Aneuploid, Mosaic, and Inconclusive

When your PGT-A results come back, they will fall into one of the following categories:
  • Euploid: The embryo has the correct number of chromosomes (46), significantly increasing the likelihood of a successful pregnancy.
  • Aneuploid: The embryo has an abnormal number of chromosomes, which may lead to miscarriage, implantation failure, or developmental issues. These embryos are typically not transferred.
  • Mosaic: Some embryos contain both normal and abnormal cells. Depending on the proportion of abnormal cells, mosaic embryos may still be viable for transfer, though with some increased risk.
  • Inconclusive: In rare cases, test results may be inconclusive due to insufficient genetic material. A re-biopsy or other methods may be considered.

Costs of Preimplantation Genetic Testing at Sama

At Sama, we are committed to offering transparent and affordable pricing for PGT-A. Here’s a breakdown of the costs:
  • Embryo Biopsy: The cost for embryo biopsy at Sama is $1000, regardless of the number of embryos.
  • Genetic Testing: For PGT-A analysis, Sama patients pay $1000 for up to six embryos, with an additional charge of $250 per embryo beyond the first six. This pricing is considerably lower than at many other fertility clinics, where the cost of genetic testing is often significantly higher.

Preimplantation Genetic Testing for Monogenic Diseases (PGT-M)

In addition to PGT-A, Sama offers Preimplantation Genetic Testing for Monogenic Diseases (PGT-M), which is designed to screen embryos for specific inherited genetic conditions caused by mutations in a single gene. PGT-M is especially valuable for couples or individuals with a known family history of genetic disorders. With enough notice Sama is able to work with a myriad set of different testing providers to ensure that the patient is able to be accepted into the PGT-M program.

Indications for PGT-M

PGT-M is recommended when there is a known risk of passing on serious genetic conditions such as (but not limited to):
  • Cystic Fibrosis
  • Sickle Cell Anemia
  • Tay-Sachs Disease
  • Huntington’s Disease
Couples who are both carriers of a recessive genetic mutation (such as cystic fibrosis) may use PGT-M to ensure that their embryos are free from the condition. This testing can help to prevent these monogenic disorders from being passed on to the next generation.

The PGT-M Process

  1. Carrier Screening: Before starting IVF with PGT-M, both partners typically undergo genetic carrier screening to identify any inherited conditions that could affect their offspring.
  1. Embryo Biopsy: As with PGT-A, the process involves an embryo biopsy at the blastocyst stage, taking a small sample of cells from the trophectoderm for genetic analysis.
  1. Targeted Genetic Testing: The biopsy sample is sent to a genetic testing lab where it is tested for specific monogenic mutations. Unlike PGT-A, which looks for chromosomal abnormalities, PGT-M focuses on particular gene mutations that are known to cause inherited conditions.
  1. Results: The genetic lab will identify which embryos are free from the condition being tested for and are therefore suitable for transfer.
By using PGT-M, patients can significantly reduce the risk of passing on serious genetic diseases and improve the chances of having a healthy baby. Pricing for PGT-M varies greatly and is best discussed withyour provider.

Why Choose Preimplantation Genetic Testing at Sama?

At Sama, we provide comprehensive preimplantation genetic testing, offering both PGT-A for chromosomal abnormalities and PGT-M for monogenic diseases. By collaborating with Genomic Prediction, we offer cutting-edge testing with transparent, affordable pricing. Whether you’re concerned about chromosomal issues or specific genetic disorders, PGT can provide valuable information to help increase your chances of a healthy pregnancy.

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Written by

Sarthak Sawarkar
Sarthak Sawarkar

Chief Executive Officer at Sama