PGD (Preimplantation Genetic Diagnosis) is recommended for couples with known genetic mutation of inherited diseases. It involves specific probe design for the target mutation and following with genetic/linkage analysis on the embryos.
Couples with a dominant or recessive single-gene genetic disease have a one-half or one-quarter chance of giving birth to children with the same genetic disease. Common diseases such as thalassemia, hemophilia, spinal muscular atrophy, cerebellar atrophy and ankylosing spondylitis, etc.
In order to avoid passing on this gene to the next generation, you can first collect blood samples from the family, confirm their gene mutation sites through the molecular genetics laboratory, design probes, and diagnose the biopsied cells from embryos to find out if there is embryo without specific gene that can be transferred.
- Spouse with known to have genes or chromosomes with genetic diseases, such as hemophilia, thalassemia, ankylosing spondylitis, cerebellar atrophy, etc.
| Duration | Procedure |
|---|---|
| 1~2 months | 1. Couples provide the genetic diagnosis report and family history to the doctors. |
| 2. DNA samples from buccal swab or blood of the couple and their relatives are collected. | |
| 3. Specific probes are designed for the target gene. | |
| 1~2 months | 4. Initiation of IVF treatment. |
| 1~2 months | 5. Biopsy of embryo and following PGD analysis proceed. |
| 6. Selecting the embryo without the mutation for transfer. | |
| Entire PGD program takes 3~6 months | |
- Hemophilia, thalassemia, ankylosing spondylitis, achondroplasia, spinal muscular atrophy, etc
- If unlisted single-gene genetic diseases, please come to the clinic to discuss with the doctor whether the probe can be designed by molecular genetic laboratory.
| Genetic Diseases | No. of cases |
|---|---|
| Thalassemia | 10 |
| Ankylosing Spondylitis | 9 |
| Hemophilia A | 4 |
| Spinocerebellar Ataxia, SCA3 | 1 |
| Spinocerebellar Ataxia, SCA6 | 1 |
| Phenylketonuria, PKU | 1 |
| Achondroplasia | 1 |
PGD cannot detect unknown mutations, non hereditary diseases, and microdeletion/microduplication of chromosome. After undergoing PGD,the chorionic villus sampling or amniocentesis are strongly recommended during pregnancy. In some cases, it is unable to develop specific probes for the following PGD analysis.