Preimplantation Genetic Testing for Aneuploidy (PGT-A), formerly known as Preimplantation Genetic Screening (PGS), is a genetic testing technique used during in vitro fertilization (IVF) to assess the chromosomal status of embryos before they are implanted into the uterus. PGT-A helps identify embryos with the correct number of chromosomes (euploid) and reduces the risk of implanting embryos with chromosomal abnormalities (aneuploid), which can lead to miscarriages or genetic disorders.
Benefits of PGT-A:
- Improved IVF success rates: By selecting euploid embryos for implantation, PGT-A can increase the chances of a successful pregnancy and reduce the risk of miscarriage.
- Reduced risk of genetic disorders: PGT-A can identify embryos with specific genetic abnormalities, helping parents avoid passing on certain genetic diseases to their children.
- Reduced emotional and financial burden: By selecting healthier embryos, PGT-A can reduce the number of IVF cycles required, potentially saving couples time, money, and emotional stress.
- Enhanced family planning: PGT-A allows couples to make more informed decisions about their family planning by selecting embryos with desired genetic characteristics.
Chromosomal disorders can vary in prevalence within different populations, and the prevalence of specific disorders in Pakistan may differ from other regions. However, some common chromosomal disorders that can be found in Pakistan, along with their approximate prevalence, are as follows:
- Down Syndrome (Trisomy 21):
Down syndrome is one of the most well-known chromosomal disorders.
The prevalence of Down syndrome in Pakistan, like in many countries, is estimated to be around 1 in 800 to 1 in 1,000 live births.
- Turner Syndrome (Monosomy X):
Turner syndrome affects females and is characterized by the presence of only one X chromosome.
The prevalence of Turner syndrome is estimated to be around 1 in 2,000 to 1 in 2,500 female births.
- Klinefelter Syndrome (XXY):
Klinefelter syndrome affects males and is characterized by the presence of an extra X chromosome (XXY).
The prevalence of Klinefelter syndrome in Pakistan, like in many countries, is estimated to be around 1 in 500 to 1 in 1,000 male births.
- Edwards Syndrome (Trisomy 18):
Edwards syndrome is a severe chromosomal disorder associated with multiple abnormalities.
The prevalence of Edwards syndrome is much lower than Down syndrome, estimated to be around 1 in 5,000 live births.
- Patau Syndrome (Trisomy 13):
Patau syndrome is another severe chromosomal disorder characterized by multiple anomalies.
The prevalence of Patau syndrome is also lower than Down syndrome, estimated to be around 1 in 10,000 to 1 in 16,000 live births.
- Cri-du-Chat Syndrome:
Cri-du-Chat syndrome results from a deletion of genetic material on chromosome 5.
The prevalence of Cri-du-Chat syndrome is estimated to be around 1 in 20,000 to 1 in 50,000 live births.Top of Form
Leave a Reply