Prenatal screening for down syndrome – causes and facts

Down syndrome is caused by a genetic mutation that occurs during early development. It affects the structure and function of chromosomes, which are found in the nucleus of cells. Prenatal screening for down syndrome will be performed by your healthcare providers within 10-12 weeks of your pregnancy.

Down syndrome is a genetic condition that occurs when a person has three copies of chromosome 21 instead of the usual two. Down syndrome can be caused by an error during cell division. This error occurs during the formation of egg or sperm cells, or during fertilization (when an egg and sperm combine to form a baby).

Down syndrome usually shows up in babies between the ages of one and three months, though it can occur at any time during pregnancy. There are many different types of Down syndrome, but they all have similar characteristics and traits.

Down syndrome is more common among boys than girls. It is characterized by certain physical features such as folds in the inner corner of the eyes, a big tongue, and short height, decreased intellectual, practical and social capacity. It is a genetic disorder that occurs as a result of a disorder in chromosome 21.

Quick Down syndrome facts

• Mothers over 35 are more probable to birth a child with Down syndrome.
• Down syndrome happens when there is an extra copy of chromosome 21, instead of the normal 2 copies.
• Features are a flat nose, big tongue, short stature, and weak muscle
• There is a higher chance of conditions such as Alzheimer’s and epilepsy.
• It is possible to test during pregnancy to check if the child might have Down syndrome.

Types of down syndrome

Trisomy 21 (nondisjunction): About 95% of people with down syndrome have this type of down syndrome. Instead of having 2 usual copies of chromosome 21, each cell has 3 copies of chromosome 21.

Translocation: About 3% of people with down syndrome have this type of it. This happens when an extra chromosome 21 is present but it is translocated to a different chromosome instead of being a separate one.

Mosaicism: About 2% of people with down syndrome have this type of it. This type is a combination. Some cells in their body will have exactly 2 copies of chromosome 21 but some cells will have 3 copies of chromosome 21.

Causes of Down Syndrome

Down syndrome has a higher chance of occurring, with older pregnancies. That is a pregnant person over the age of 35. Another reason is an extra copy of chromosome 21.

The causes of it are not completely understood. Researchers believe it may be caused by a combination of genetic, environmental and lifestyle factors. Some researchers also believe that some people who get hit by lightning as adults may have an increased risk of getting down syndrome.

Effects of down syndrome

• Heart defects – Congenital heart disease (a heart defect present at birth)
• Eye problems
• Ear infections – Hearing loss, which can be mild or severe
• Intellectual disability (problems with learning and communication)
• Skin problems

• Digestive issues Sleep apnea (pauses in breathing during sleep), which may require surgery if it’s severe.
• Respiratory (breathing) problems
• Leukaemia (cancer of the blood)
• Some people have a more severe form of the down syndrome than others

Prenatal screening for down syndrome and Prevention

It occurs in about 1 out of every 800 live births, or 1 in 2,500 male births and 1 in 4,000 female births. There is no way to prevent down syndrome at this time, but many experts believe that reducing your chance of having a child with the condition is possible if you do the following:

• Avoid alcohol and cigarette smoke
• Get a good night’s sleep before you become pregnant
• Eat a healthy diet that includes fruits and vegetables, whole grains, and lean proteins.

• Get plenty of exercises and limit your weight gain during pregnancy
• Take folic acid supplements before you become pregnant and while you’re pregnant
• Get plenty of prenatal care

• Don’t take any illegal drugs or prescription medicines unless you have your doctor’s advice
• If you’ve had a baby with neural tube defects, talk to your doctor about what steps you can take to prevent another pregnancy from having problems.

In case of a history of epilepsy, talk to your doctor about how you can reduce the risk of having another baby with the condition.

When you have decided to have a baby with neural tube defects, talk to your doctor about what steps you can take to prevent another pregnancy from having problems.

The bottom line

Down syndrome is a life-term condition. It is not possible to change but with early intervention, it can be improved. In terms of the responsiveness of mothers and the kid reactions that are dependent on maternal behavior, children with Down syndrome and their moms interact more positively than children with other developmental disorders. These results imply that mothers of Down syndrome children as well as the children themselves are contributing to a Down syndrome advantage.

Diagnostic tests and prenatal screening for down syndrome are done during pregnancy. Sometimes it can be found evidently in an ultrasound like extra fluid in the neck region. There are chances that screening tests can become a failure. Sometimes screening tests comes negative but the baby will have no issues.

Rarely test results will be normal but they miss a problem that does exist. The treatment helps to improve their physical and mental abilities. Persons with this condition also have a lot of talents. They need special attention at the early stage. Through proper therapy and training, they can also lead a normal life.