Pre-implantation genetic diagnosis (PGD) is a reproductive technology that allows genetic health testing prior to embryo transfer. As the name implies, PGD involves genetic tests performed on an embryo that has not yet been implanted in the womb so they can be analyzed, and then if any abnormalities are detected than can be remedied before implantation. 

We have listed out a few of them for you here-

• Cystic fibrosis

Your digestive system, lungs, and other organs might become damaged by cystic fibrosis. It's a hereditary condition brought on by a damaged gene that can be passed down through the generations. The cells that make mucus, perspiration, and digestive fluids are impacted by cystic fibrosis. A child needs two copies of the CF gene, one from each parent, in order to have the condition.

• Tay-Sachs disease

Tay-Sachs is a rare genetic illness inherited from one parent to the next. It results from the lack of an enzyme that aids in the breakdown of fatty compounds. These fatty compounds, known as gangliosides, accumulate to toxic amounts in the brain and spinal cord and impair the nerve cells' ability to function. By the age of 4, Tay-Sachs babies generally develop pneumonia-related complications. There is no cure for it, for couples who could be at a higher risk of having a child with Tay-Sachs, genetic testing is available.

• Spinal muscular atrophy (SMA)

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Motor neurons, the nerve cells in the brain stem and spinal cord that regulate necessary skeletal muscle activity like speaking, walking, breathing, and swallowing, are gradually destroyed by this group of hereditary diseases, which causes muscle weakness and atrophy.

• Hemophilia

Also known as “The Royal Disease”, this genetic disorder causes the blood to not clot properly. This may result in both spontaneous bleeding and bleeding after injury or surgery. Blood contains a variety of clotting proteins that can aid in the prevention of bleeding. Bleeding is more likely to happen when the blood clotting factor level is low, in the case of hemophilia. Currently, there is no treatment for it, however, people can take medication.

• Sickle cell disease

Red blood cells twist into a sickle shape as a result of Sickle cell disease. A scarcity of healthy red blood cells results from the cells dying too soon (sickle cell anemia), and the cells might obstruct blood flow and cause infections, pain, and fatigue (sickle cell crisis).

• Duchennes muscular dystrophy

A heritable condition that causes gradual muscle weakness, usually in boys. Duchenne syndrome is prevalent among those who have muscular dystrophy. Although the condition primarily affects boys, girls can be carriers and have minimal symptoms. Frequent falls, difficulty standing or moving quickly, a waddling gait, large calves, and learning impairments are among the symptoms.

• Thalassemia

This is a genetic blood illness called is characterized by abnormally low levels of the oxygen-carrying protein hemoglobin and red blood cells. Symptoms include fatigue, weakness, pallor, and delayed growth are among the symptoms.

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In the end, we hope that you have become better informed about the disorders that  Pre-implantation Genetic Diagnosis can detect. If you are a family that is struggling with infertility and suspect you could be carrying an inheritable disease, then we hope that you visit your doctor and explore whether or not a Pre-implantation Genetic Diagnosis is right for you!

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References

• Kane, S. C., Willats, E., Hyett, J., & da Silva Costa, F. (2016). Pre-implantation genetic screening techniques: implications for clinical prenatal diagnosis. Fetal diagnosis and therapy, 40(4), 241-254.
• Palini, S., De Stefani, S., Primiterra, M., & Galluzzi, L. (2015). Pre-implantation genetic diagnosis and screening: now and the future. Gynecological Endocrinology, 31(10), 755-759.

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