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Single gene

Single gene

Single gene test is one of the early examinations of embryos before they are transferred to the uterus which is called genetic diagnosis. These tests are a revolutionary reproductive health technique used during the use of microscopic injection to examine any specific genetic disorders or genetic diseases with a single gene in embryos. This single gene test is performed to avoid the risk that the fetus will inherit a single gene disorder from its parents or not get a healthy pregnancy.

Screening is appropriate for people with high risk of developing a particular single gene disorders, such as sickle cell anemia, cystic fibrosis, beta-thalassemia and other diseases.

 

What is single gene test?

Single gene testing of embryos is a necessary procedure in the event of a genetic problem in the husband or wife or has a family history with either of them, or the presence of children in the spouses with certain genetic problems. In this case, embryos are genetically examined to select healthy embryos and to exclude embryos with single gene disease.

 

How is single gene test performed on embryos?

Bedaya Hospital performs microscopic injections, which sometimes require gene analysis of embryos. After obtaining mature eggs from the wife, and vaccinating them with sperm taken from the husband using ICSI technology, these eggs are converted into embryos after fertilization, and at a certain stage of the growth of these embryos and the division of their cells; a number of cells are extracted from the fetus by highly accurate microscopic devices and developed, and then the extracted cell is examined and its components analysis in certain ways, to detect the presence of any genetic defects, and then the pregnant embryos are excluded. for genetic defect, and only the cultivation of genetically healthy embryos.

It is better to take the sample for genetic examination from the embryo on the fifth day to increase the accuracy of the examination according to the latest recommendations and global studies.

 

When is Single gene testing used for embryos?

The single gene test has the ability to detect diseases and not to transmit them to the fetus and protect the child from carrying these diseases, the most prominent of these diseases are anemia, muscular dystrophy and cystic fibrosis. Single gene tests play a vital role in determining the likelihood of certain diseases as well as tests and sometimes medical treatments, so the single gene testing step of embryos is used in specific cases:

  • When there is a genetic problem in the husband or wife, or in the family history of either of them.
  • Some medical studies suggest genetic testing of embryos also in cases of repeated failure of pregnancy after IVF or in recurrent abortions caused by genetic defects as well.
  • Single gene disorder is very important to help you develop a treatment plan if your child has special medical needs once born. Many couples with children with special medical needs want to have known this in advance so that they can better prepare financially and emotionally before birth.

 

The importance of single gene test

The success of scientists in discovering the gene causing any genetic disease is a real achievement, which greatly helps to provide sound genetic consultation to the patient and his family, and therefore is the first step to prevent the recurrence of the disease again in future generations, and this is the main goal of genetics.

Preventing the recurrence of the disease is done in two ways:

The first

before pregnancy, through the process of IVF and ICSI injection, in which healthy embryos that are not infected with the gene causing the disease are selected, and re-transmitted in the mother's uterus.

 

The second

Through the early diagnosis of the disease during pregnancy by analyzing a sample of amino fluid - a dietary fluid that provides protection for the fetus and is located inside the amniotic cyst in the mother's uterus to determine the extent to which the fetus has this genetic defect, thereby preventing the completion of this pregnancy.

 

Single gene diseases

 

Duchenne Muscular dystrophy

According to the latest statistics, one in every 3,500 babies born has the disease with the disease at birth.

 

Beta thalassemia

A genetic disease that affects approximately 1.5% of the world's population.

 

Spinal muscular atrophy

 A genetic disease that affects a person's nerves, especially those in the spine, causing movement problems that reach paralysis.