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Three types of PGT solve different problems
| Type | Main concerns | What kind of background is usually required? |
|---|---|---|
| PGT-A | Screening for abnormal chromosome number | Discuss the value of screening in combination with age, embryo status, treatment history, etc. |
| PGT-M | Specific single gene diseases | Usually the pathogenic variant or familial genetic risk has been identified, requiring genetic counseling and testing preparation. |
| PGT-SR | Problems related to chromosome structural rearrangement | When one party has chromosomal structural rearrangement, a professional team will discuss embryo detection strategies. |
Items once referred to as PGS and PGD are still common in older articles, but looking at the old names alone does not determine which test to perform now. The doctor should be asked to specify the complete category and laboratory testing range.
Why not add PGT-A directly every cycle?
The goal of PGT-A is to provide chromosome number information to aid discussions about embryo selection; it does not create more embryos, nor does it improve the quality of the eggs themselves. For people with fewer embryos, the options available after testing may also be limited.
The ASRM 2024 committee opinion states that the value of PGT-A as routine screening for all IVF patients has not been demonstrated. Therefore, "the performance of each transfer after testing" and "the ultimate chance of obtaining a live birth starting from one egg retrieval" need to be discussed separately.
When consulting, you should ask: Given your age, medical history, and expected number of embryos, which decision might the test change? If you don’t get tested, how will you choose a transfer? Are the extra costs, biopsies and freezing worth it?
From genetic counseling to obtaining reports
- 01
Clear detection purpose
Provide family history, carrier screening, and relevant genetic or chromosomal reports to the physician. PGT-M may require family samples or personalized test preparation, and cannot wait until egg retrieval to ask the first question.
- 02
IVF and embryo culture
The embryos first come from egg retrieval, fertilization and culture. Not all fertilized eggs will develop to a stage suitable for biopsy, and culture results will affect the final number of tests.
- 03
Biopsy and Freezing
A common practice is to take a small amount of trophectoderm cells at the blastocyst stage and send them for examination, and freeze the embryos themselves, waiting for the results. The biopsy facility, testing laboratory, and preservation facility may not be the same entity.
- 04
Interpret reports and discuss transfer
Physicians and genetic professionals interpret the report in conjunction with embryo information to discuss embryo options, further consultations that may be needed, and preparation for subsequent transfer.
Several common words in reports
| Result expression | General meaning | What to discuss next |
|---|---|---|
| Euploid | Within the method and detection range used, the chromosome number results are in line with expectations | Transfer still needs to be arranged based on the embryo and individual clinical conditions. |
| Aneuploidy aneuploid | Detection indicates abnormal number of chromosomes | Physicians and genetic professionals explain the types of abnormalities and their clinical significance. |
| Chimeric mosaic | Sample signals suggest the possibility of different cell populations | Laboratory standards, abnormal range and patient conditions will all affect the interpretation, and it is not appropriate to sort by proportion. |
| No results or unclear results | Samples, techniques, or analyzes fail to yield clear answers | Discuss the value, risks, costs, and other options for retesting. |
The above words are mainly used to understand the PGT-A report. The result categories and expressions of PGT-M and PGT-SR should be read according to the corresponding laboratory reports, and "negative" and "normal" of different items should not be confused.
Why are there still detection boundaries?
Biopsies analyze a small number of cells and cannot directly observe every cell of the entire embryo. Detection platforms, technical thresholds, mosaicism, and sample quality can all affect results; biopsy, cryopreservation, and thawing also have their own technical risks.
PGT-A does not screen for all single-gene disorders; PGT-M usually targets specific problems that have been identified and is not a universal test that covers all birth defects. Post-test pregnancies should still be discussed with the obstetric and genetic team for prenatal screening or diagnosis, rather than canceling follow-up evaluation because “PGT was done”.
When there is a clear family history, complete preparations first and then schedule the cycle
If a certain genetic disease or chromosome structure problem is already known, the original report, detection method and family information should be submitted during the initial consultation. Personalized testing may require first assessment of feasibility, replenishment of samples, and establishment of an analysis protocol.
The preparation cycle, embryo detection turnover and reporting time are determined by the corresponding team. Egg retrieval, biopsy, and transfer do not necessarily need to be completed in one trip to the United States, and purchasing tickets in advance should not be a reason to skip genetic counseling or make a hasty decision.
What does the "testing fee" in the cost estimate specifically include?
| Project | Common billing issues |
|---|---|
| Genetic Counseling and Personalized Preparation | Whether there is an additional charge, whether it involves family members’ samples or the establishment of a testing plan. |
| Embryo biopsy | Calculated by cycle, batch or number of embryos. |
| Sample detection | How many coins are included in the package, how to charge after exceeding. |
| Freezing and Preservation | Whether the first installment is included and how to renew later. |
| Additional or repeat testing | How to deal with no results, sample problems and re-examination respectively. |
| Subsequent transfer | Whether the cost estimate is independent, and whether the medication and monitoring are listed separately. |
The hospital's biopsy fee and the external genetic laboratory testing fee may be two different bills. When comparing two quotes, these costs should be put back into the same billing caliber.
PGT FAQ
The appearance of the embryo is high, does it still need to be tested?
Appearance score and chromosome or gene information are different dimensions. Whether to test or not depends on personal background and intended use, and cannot be determined solely by appearance grade.
If the test result is good, will it definitely mean that I can implant?
No. The uterus, embryo, physical condition and other factors can still affect the implantation and pregnancy process.
After seeing the chimeric result, can I choose my own embryo?
It is not advisable to make your own judgment. A full report, laboratory interpretation, and professional genetic counseling are required to discuss possible pregnancy and subsequent prenatal evaluation.
PGT-M has been done once, can it be used directly when changing laboratories?
New laboratories usually still need to evaluate the original mutation, pedigree, and previous testing data. Whether re-preparation is needed should be asked before starting the cycle.
Clinic-specific treatment and laboratory data
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