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Last Updated: Jan 10, 2023
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Which Are The Genetic Disorders That IVF Can Help?

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Dr. Ruchi MalhotraIVF Specialist • 32 Years Exp.MBBS Bachelor of Medicine and Bachelor of Surgery, DNB - Obstetrics & Gynecology, DGO
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In vitro fertilization is a procedure where a doctor extracts eggs from a woman’s ovaries, fertilizes it and implants an embryo in her uterus. But before the implantation, the embryos are tested for genetic disorders.
These tests are conducted to find out if there are any genetic disorders in the embryo. Genetic problems lead to failed implantation and even if implantation is successful, there is a high risk of miscarriage.

The embryos that are revealed to have defects are rejected and only the healthiest embryo is implanted. So screening during IVF actually increases the likelihood of the woman becoming pregnant.

The two chief benefits of these tests are-

• No risks of transferring your genetic abnormalities to your child
• A safe and healthy pregnancy

The genetic disorders that these procedures look for are-

• Huntington’s disease: It causes degeneration of the brain’s nerve cells. It results in cognitive impairments, involuntary movements of the limbs and twitches, muscle dystonia, unnatural eye movement etc.

• Sickle cell anaemia: The body produces sickle-shaped rigid red blood cells that are unable to carry the requisite amount of oxygen to all parts of the body. It is not curable and causes excruciating pain, inflammation of hands and feet, infections and problems with eyesight.

• Muscular dystrophy: The body cannot utilize proteins to strengthen muscles and this leads to loss of muscle mass, extreme weakness, muscle cramps, unsteady gait and breathing problems.

Cystic Fibrosis: It interrupts the function of the lungs and that causes persistent infections. The mucous isn’t drained and blocks the airways of the body which results in inflammation of the lungs, respiratory distress or failure, asthma and even pneumonia and bronchitis.

• BRCA Mutation: BRCA 1 and 2 genes produce proteins that are cancer tumour suppressors. They keep the structure and composition of the cell stable. They can also repair damaged DNA. Mutations of these vital genes can increase risks of breast and ovarian cancer.

• Fragile X syndrome: this disorder affects a child’s ability to learn and impairs their speech, control their impulses and learn how to walk. Boys are more prone to it than girls are.

• Tay-Sachs disease: This disorder damages the nerve cells of the brain and the spinal cord and leads to motor disabilities, seizures, loss of sight or hearing, rupture of blood vessels in the eyes etc.
Screening for genetic disorders can ensure that your baby is born healthy with no genetic abnormalities.

In case you have a concern or query you can always consult a specialist & get answers to your questions!
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