Could DiGeorge Syndrome have been Prevented?

Could DiGeorge syndrome have been prevented? 22q11.2 feels like a code language or password. but it’s not like that. It is the name of the most common chromosomal pathology after Down syndrome. We are being told about this by Dr. Priya Kadam of Medginome Labs Program Director-NIPT. Let us know about this unknown chromosomal pathology and also know how infants are affected by this disease and what measures we should adopt to avoid it.

what is Digeorge Syndrome know about Disorder
Could DiGeorge syndrome have been prevented?

What is 22q11.2?

This chromosomal pathology arises from the destruction of chromosome 22 or part thereof at location 22q11.2. Hence it got the name 22q11.2 deletion syndrome. There are various manifestations of this pathology. It can affect different parts of the body. It usually affects the heart, kidney, mouth, brain, and immunity or endocrine system, causing many pathologies.

In most cases, this pathology, occurring in 1 infant per 2000 births, occurs spontaneously, while in 5 to 10 percent of cases it is genetic and in 50 percent of cases it is transmitted. Although it is not known, in most cases it is known after the birth of children, in their childhood or sometimes after they grow up.

Case Examples

When the expected mother, Juhi, finds out her pregnancy, she is excited. Although Juhi was miscarried because her baby had Down syndrome. But even after this, Juhi did not lose hope and after a few months she became pregnant again. This time, with caution, he contacted the geneticist, who advised him to undergo a non-invasive pre-natal test to detect not only Down syndrome, but also other chromosomal malformations.

She was deeply disappointed to learn that this time her baby had a chromosomal malformation called 22q11.2 microdeletion syndrome, which is known as Diazorge syndrome. Initially she was very upset, but she was glad that she came to know on time, due to which she could take the right decision.

Today most expected parents know about Down syndrome. All this is the result of increased awareness about it. Although there are many malformations that have neither been said nor heard, as these malformations are very rare. Even more difficult is that neither much is known about this pathology nor about its treatment.

So we often hear stories of parents who stumble rate-by-step to identify their child’s deformity, or are seeking capital to treat them.

It is clear that there is no cure for such malformations, hence management is the only way to improve the life of the patient. Prevention includes many things:

Knowledge of your genetic structure for specific diseases.
Get to know your family history.
Matching your spouse’s jeans before thinking about your baby.
In the case of miscarriage, identify its underlying cause and take care of it in the next pregnancy.
Conducting a non-invasive prenatal test during pregnancy to detect any chromosomal pathology. It occurs by blood test and can be done up to 9 weeks of gestation.
When the baby is born, have a newborn screening test done so that various malformations can be detected.
Timely investigations can improve results and awareness is the main method of identifying such pathologies.

Could DiGeorge syndrome have been prevented?

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