Preimplantation Genetic Testing (PGT)
Screen embryos for chromosomal abnormalities before transfer — improve implantation rates and reduce miscarriage risk
What is PGT?
PGT (preimplantation genetic testing) analyzes embryo DNA before IVF transfer. After embryos are cultured to the blastocyst stage (Day 5–6), an embryologist biopsies 5–10 trophectoderm cells — the cells that become the placenta, not the baby. Only embryos that pass screening are transferred, significantly reducing failed implantation and miscarriage risk.
Three Types of PGT
PGT-A
Aneuploidy Screening
Screens for incorrect chromosome number (aneuploidy), such as Down syndrome (extra chromosome 21). The most common PGT type — benefits all IVF patients, especially women 35+, those with recurrent loss, or repeated implantation failure.
PGT-M
Monogenic / Single Gene
Screens for specific inherited single-gene disorders such as cystic fibrosis, sickle cell anemia, or BRCA mutations. Requires custom probe design 2–3 months in advance. For couples known to carry a specific genetic condition.
PGT-SR
Structural Rearrangements
Screens for chromosomal inversions, translocations, and other structural abnormalities. For known structural rearrangement carriers who appear phenotypically normal but have significantly elevated embryo miscarriage rates.
Who Should Consider PGT?
The PGT Process
IVF Stimulation & Egg Retrieval
Same as standard IVF: medication stimulates multiple follicles, eggs are retrieved and fertilized in the lab.
Blastocyst Culture (Day 5–6)
Fertilized eggs are cultured to the blastocyst stage. Typically 40–60% of fertilized eggs reach blastocyst — the quality checkpoint before biopsy.
Trophectoderm Biopsy
An embryologist removes 5–10 cells from the outer trophectoderm layer (not the inner cell mass that becomes the baby). Cells are sent to a genetics lab for analysis.
Embryo Cryopreservation
All biopsied embryos are immediately frozen while awaiting PGT results (5–7 days). This "freeze-all + FET" approach is standard with PGT.
Results & Embryo Selection
A genetic counselor helps interpret the report. Your physician prioritizes chromosomally normal embryos for transfer.
Frozen Embryo Transfer (FET)
After uterine lining preparation, one chromosomally normal frozen embryo is transferred — typically 4–6 weeks after egg retrieval.
PGT Cost
PGT costs are charged on top of the IVF cycle fee and include the biopsy procedure and genetics lab analysis:
| Cost Item | Estimated Cost (USD) |
|---|---|
| Embryo biopsy procedure (lab technique) | $1,000–$2,000 |
| PGT-A genetic analysis (per batch of embryos) | $2,500–$4,000 |
| PGT-M probe design (one-time fee) | $1,500–$3,000 |
| Genetic counseling (recommended) | $200–$500 |
| PGT-A total per batch | $3,500–$6,000 |
* PGT costs are in addition to IVF cycle fees. Some insurance plans cover PGT for specific indications such as known chromosomal carrier status.
Frequently Asked Questions
Does PGT guarantee a healthy baby?
PGT significantly reduces the chance of transferring a chromosomally abnormal embryo, but cannot guarantee a healthy birth. PGT-A screens for chromosome number errors but cannot detect all genetic mutations. PGT-M screens for specific inherited conditions but requires custom probe design. Even after a normal PGT result, there remains a small chance of miscarriage or failed implantation — though significantly reduced.
Does embryo biopsy harm the embryo?
Modern blastocyst biopsy — removing 5–10 trophectoderm cells on Day 5–6 — is safe and does not impair embryo development potential. Research shows that babies born from biopsied embryos have similar health outcomes to those from unbiopsied embryos. Blastocyst-stage biopsy causes less disruption than Day 3 cleavage-stage biopsy and is now the standard approach.
Does PGT-A improve IVF success rates?
For women over 35, those with repeated implantation failure, or recurrent pregnancy loss, PGT-A significantly improves per-transfer success rates by selecting chromosomally normal embryos and reducing miscarriage risk. For younger patients (under 35) with good embryo quality, the incremental benefit is more limited. Your physician will advise whether PGT-A is recommended for your specific situation.
How long does PGT-M preparation take?
PGT-M requires genetic counseling and custom probe design 2–3 months before starting an IVF cycle. This lead time exists because each family's mutation is unique and requires a personalized molecular diagnostic tool. If you know you carry a specific genetic condition, consult as early as possible to build in this preparation time.
Related Topics
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