Occurrence of Down Syndrome
Down syndrome is a genetic condition when a child is born with an extra chromosome that leads to certain birth defects. These birth defects can affect any body part and are commonly difficult to treat.
Birth defects are a result of various factors and can cause sensitivity at any stage of pregnancy. According to the Center for Disease Control and Prevention (CDC), in the US alone, more than 6,000 cases of Down syndrome are diagnosed.
The actual cause of the formation of the extra chromosome is unknown and therefore, there is no cure for Down syndrome as such. Learn about genetics of Down syndrome.
Early screening can help in the treatment of the affected child’s medical issues and improve his development. Prenatal tests are recommended for parents to identify any genetic defect in the fetus.
Amniocentesis, chorionic villus sampling (CVS), blood tests and ultrasounds, MRIs are recommended in suspected cases.
Antenatal screening is helpful in detecting more than 90% of the cases resulting in Down syndrome abortion.
“An extra copy of a chromosomes results in Down syndrome. Due to Down syndrome, developmental delays and learning disability occurs in a child. This is not a curable disease but reducing the risk can help sort the issue. Parents of such children are keep to know how Down syndrome can be prevented and how their child’s growth and development can be enhanced in such condition.”
How Can we Prevent Down Syndrome?
It is a known fact that there is no preventive measure for Down syndrome. All we can do to avoid the occurrence of Down syndrome is by reducing the risk.
Some on-going studies indicate that there can be certain methods to prevent Down syndrome in future.
A study by Howard S. Cuckle at Leeds University reveals that there are “three potential primary prevention strategies:
- avoiding reproduction at advanced maternal age
- pre-implantation genetic diagnosis for couples who are at high risk of Down’s syndrome
- folic acid supplementation for Down syndrome
To prevent Down syndrome, we should control or avoid these risk factors:
Advancing Age and Down Syndrome
In a report by CDC, it was found that about 9 percent of the first births that happened in women of more than 35 years of age had an increased risk of chromosome abnormalities and about 20 percent of the first births were found in women of age between 30 to 34 years.
A study in this reference stated that proteins (cohesin and securin) present in the body help in keeping the chromosomes together but if the level of these proteins reduce, it can cause the chromosome pairs or the sister strands to be more loosely connected.
In mice models, some researchers also found that older female mice had lower amounts of these proteins in their eggs, suggesting that as the eggs age (according to the woman’s age), the levels of these proteins relatively fall. Due to this, an uneven chromosome division leads to the formation of an abnormal number of chromosomes in the offspring.
Pre-implantation Genetic Diagnosis (PGD) for Couples With Down Syndrome
Pre-implantation genetic diagnosis (PGD) is a process that involves the screening of in-vitro fertilisation (IVF) generated embryos. This is done with the help of genetic analysis of one or two biopsied blastomeres. In the process of transferring only those embryos that are diagnosed to be unaffected, the couples are at an increased risk of transmitting single gene defects or chromosomal abnormalities.
Physicians suggest that both parents’ chromosomes should be diagnosed to see if the translocation occurs in the baby or if any one parent is a carrier of the condition. A research states that “the population risk for trisomy 21 is 1 in 700 births but some couples are at a much higher risk owing to parental translocation or mosaicism”.
Folic Acid supplementation
A study at Leeds University reveals that folic acid supplementation also helps to prevent brain and spinal cord defects.
The study states that it will be beneficial for the suspected pregnant women to be given massive doses of folic acid 5 milligrams a day, more than 10 times to reduce the chances of the baby to acquire Down syndrome. Mainly, the strategy of folic acid supplementation was designed with an idea to prevent fetal neural tube defects (NTDs) which might help to reduce the risk of Down Syndrome.
The author is a biotechnologist and is associated with DiseaseFix as a researcher and content guide. DiseaseFix develops health information modules for patients and provides a unique platform to allow access of reliable information of a variety of types for diseases.