Header Ads

Surely this will not necessarily be done during pregnancy for a pregnant baby, chromosomal pathology

Surely this will not necessarily be done during pregnancy for a pregnant baby, chromosomal pathology

22q11.2 Feels like a code language or password. But it's not like that. It is the name of chromosomal pathology found most after Down syndrome. In this regard, we are telling the doctor of Priyanka Kadam of the Madginom Labs Program Director-NIPT. Let's learn about this unknown chromosomal pathology and also learn how children are affected by this disease and what measures we should adopt to avoid it.

What is 22q11.2?

This chromosomal distortion is caused by the destruction of chromosome 22 or part of it at 22q11.2. Hence its name is 22q11.2 deletion syndrome. There are various manifestations of this distortion. It usually affects the heart, kidney, mouth, brain, and immunity or endocrine system, causing many deformities.

In most cases, it is unintended, it is inherited in 1 in 1 in 2000 births, whereas it is inherited in 5 to 10 percent cases and it is transmitted in 50 percent cases. Although not aware of it, in most cases it is known after the birth of a child, in their childhood or sometimes after growing up.

Case examples

When the expected mother, Juhi discovered her pregnancy, she was very excited. Although Juhi had a miscarriage, her infant had fallen syndrome. But even after this, Juhi did not lose hope, and after a few months, she got pregnant again. This time being careful, he contacted geneticist who advised him to conduct a non-invasive prenatal test so that not only can the Down syndrome, but also other chromosomal disorders be detected.

He was quite disappointed to know that this time his baby had a chromosomal pathology called 22q11.2 microdialysis syndrome, which is known as Diaz's syndrome. Initially, she was distraught, but she was glad she knew it at the time, due to which she could make the right decision.

Today, most of the expected parents are aware of Down syndrome. All this is a result of increased awareness about it. Although there are many distortions which are neither said nor heard about, because these distortions are very rare. The more difficult thing is that neither does it know much about this deformity nor about its treatment.

That is why we often hear stories of parents who identify rates of birth rate for their child, or demand capital for their treatment.
It is clear that there is no cure for such maladies, hence the only way to improve the life of the patient is management. There are many things in prevention:

Be aware of your genetic composition for specific diseases.
Know the history of your family
Match your spouse's jeans before thinking about the baby.
Identify the underlying cause of abortion and take care of it in the next pregnancy.
During non-invasive pre-pregnancy test during pregnancy, so that any chromosomal pathology can be detected. This is done by blood examination and can be done for up to 9 weeks of pregnancy.
When the baby is born, then do the screening test for the newborn, so that different disorders can be detected.
In time, the investigation can improve the results and the primary way of identifying such distortions is awareness.

No comments