Down syndrome is caused by a genetic condition in which an extra copy of the twenty-first chromosome is created. Normally, you should have two copies of each chromosome taking the total to 46. But people who are diagnosed with Down syndrome have three copies due to which the total becomes 47 and that is why it is also known as Trisomy 21.
Detecting and diagnosing Down syndrome is a delicate journey that requires both medical expertise as well as compassionate care. Nowadays, most nursing clinics recommend prenatal screenings to assess whether the child is suffering from Down syndrome or not. If the health experts suspect that the infant may be having this syndrome then certain post-natal tests are advised.
At each step of diagnosis , families are provided with all the important information as well as support so that they can handle it with full preparation. Every year World Down Syndrome Day is observed on March 21 to bring awareness about this particular health issue and how timely diagnosis can prevent it.
Causes, diagnosis, and prevention of Down Syndrome
Although Down syndrome can be caused due to genetic issues, the symptoms of this syndrome don't need to be present in the parents. It is possible to inherit it from an unaffected parent. Generally, there is a rearrangement of genetic material between a chromosome and chromosome 21. While this balanced translocation does not cause health issues to the parent when it is passed on to the next generation it leads to imbalance.
The syndrome is diagnosed using prenatal screening tests such as maternal serum screening, and ultrasound that indicate the possibility of chromosomal abnormalities such as Down syndrome. When diagnosed in the early stages these tests give the parents the option to make a proper decision regarding whether to go ahead with the pregnancy or not. It also prepares parents in advance so that they can handle things efficiently when their child is born with Down syndrome.
Nowadays, people with balanced translocation are advised to opt for Preimplantation genetic testing which helps the healthcare expert to screen the embryos and find the correct chromosome number. Depending upon the results of this test it is possible to implant the healthy embryo.
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But this is just one solution. The problems due to balanced translocation can differ from person to person and accordingly, the health experts may advise various tests and precautions.