Bottom Line Up Front
PGT-M (preimplantation genetic testing for monogenic disorders) screens embryos for specific inherited genetic conditions before transfer, preventing diseases like cystic fibrosis, sickle cell disease, BRCA mutations, Huntington's disease, and thalassemia from being passed to the next generation. In Colombia, PGT-M adds $2,000–$4,000 to an IVF cycle, compared to $4,000–$8,000 in the US. Probe development from family DNA takes 4–8 weeks before the IVF cycle begins.
If you or your partner carry a known genetic mutation for a serious inherited disease, PGT-M allows you to have biological children without passing that condition on. The technology has been available for over two decades and has prevented thousands of children from being born with devastating genetic conditions.
PGT-M is distinct from PGT-A (which screens for chromosomal abnormalities like Down syndrome). PGT-M targets a specific known mutation in your family, while PGT-A looks at the overall chromosome count. Both can be performed on the same embryo biopsy.
Conditions Commonly Screened with PGT-M
| Condition | Inheritance Pattern | Carrier Frequency |
|---|---|---|
| Cystic Fibrosis | Autosomal recessive | 1 in 25 (Caucasian) |
| Sickle Cell Disease | Autosomal recessive | 1 in 12 (African American) |
| Thalassemia | Autosomal recessive | Varies by ethnicity |
| Huntington's Disease | Autosomal dominant | 1 in 10,000 |
| BRCA1/BRCA2 mutations | Autosomal dominant | 1 in 400 (general population) |
| Spinal Muscular Atrophy (SMA) | Autosomal recessive | 1 in 50 |
| Fragile X Syndrome | X-linked | 1 in 250 (female carriers) |
| Marfan Syndrome | Autosomal dominant | 1 in 5,000 |
| Duchenne Muscular Dystrophy | X-linked recessive | 1 in 3,500 (male births) |
| Tay-Sachs Disease | Autosomal recessive | 1 in 30 (Ashkenazi Jewish) |
PGT-M can be developed for virtually any single-gene disorder where the causative mutation is known. If your family carries a rare condition not listed above, consult with a genetic counselor — a custom probe can almost always be created.
How PGT-M Works
Step 1: Probe Development (4–8 Weeks Before IVF)
Before your IVF cycle begins, the testing laboratory needs DNA samples from you, your partner, and ideally affected and unaffected family members. These samples are used to create a custom “probe” — a molecular tool that can detect the specific mutation in your embryos. This development phase takes 4–8 weeks and is a one-time cost. Once created, the probe can be used for any future IVF cycles.
Step 2: IVF and Embryo Biopsy
You undergo a standard IVF cycle. On day 5 or 6 of embryo development, a few cells are biopsied from each blastocyst (from the trophectoderm, the outer layer that becomes the placenta — not the inner cell mass that becomes the baby). Embryos are frozen after biopsy while awaiting results.
Step 3: Testing and Results
Results typically take 2–3 weeks. Each embryo is classified as affected (carries the disease), carrier (carries one copy but unaffected), or unaffected (does not carry the mutation). Only unaffected or carrier embryos (for recessive conditions) are candidates for transfer.
Cost of PGT-M in Colombia
| Component | Colombia | United States |
|---|---|---|
| Probe development (one-time) | $1,000–$2,000 | $2,000–$5,000 |
| Per-cycle testing (up to 8 embryos) | $1,000–$2,000 | $2,000–$4,000 |
| Genetic counseling | $100–$200 | $300–$600 |
| Total PGT-M add-on | $2,000–$4,000 | $4,000–$8,000 |
Important Scope Note
PGT-M on this site refers exclusively to screening for chromosomal abnormalities and inherited genetic diseases. It is a medical tool for preventing serious genetic conditions. If you have questions about genetic testing for non-medical purposes, consult a genetic counselor for guidance.
Carry a Genetic Condition?
Talk to a Colombian fertility specialist about PGT-M and how it can help you build a healthy family without passing on the mutation you carry.
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