Birth Defects And Developmental Delays: An Overview Of Genetic Testing

If you are a parent or caretaker of a child who received a referral for pediatric genetic testing, you may be scared about your upcoming medical visit. Your referral may be due to one or several factors. Hopefully, your pediatrician gave you a brief overview of why the screening is needed. Perhaps you went into the office with many questions about your child's development, and the causes for the problems with development may not have been easily ascertained by your child's pediatrician.

Genetic testing can get you the answers to those whys. The testing can also serve as a a foundation for knowing the genetic traits in your family that are hereditary. This can help others who plan to conceive. 

The Role of Genes

Children obtain a half set of genes from each of their parents. These genes determine specific things about an individual such as their appearance, probability of having certain medical conditions, and their blood type. Genes are made up of chromosomes. Sometimes chromosomes are not formed correctly, which is referred to as mutations. Other times chromosomes may be missing from individuals, or some people may have too many of a certain chromosome.

When any of these issues occur, growth and development may be affected, and illnesses and conditions may result from the abnormalities. Sometimes chromosome issues may be apparent to pediatricians based upon the appearance of a child and developmental delays reported by parents. A number of children may receive these diagnoses as early as the time of their births. 

The Role of Genetics Testing

Genetics testing is the most reliable method of knowing the exact diseases or conditions your child has. The tests involve taking samples of tissue, blood, or urine which are later tested and analyzed in a laboratory. The tests are designed to identify problems, the arrangement and number of chromosomes. 

Your Role in the Testing

Since family history is a huge part of genetic testing, you will need to fill out paperwork detailing any prior history of certain conditions and diseases in other family members. The more in-depth and accurate your responses are, the better it will be in helping with the evaluation.

Some genetic testing companies may give you the paperwork in advance to fill out at home. Ask family members if you are not sure about certain questions. Also, be prepared to answer questions about your child's development. For example, you may be asked when your child first sat up on their own. 

Final Thoughts

The overwhelming feelings you may have now will likely dissipate when you get the results of the genetic testing. This will aid in you being able to ensure that your child receives the best care. The information from the report can also be shared with educators, which can aid in facilitating the best teaching approaches for your child by means of a care plan. For example, a 504 plan, may be implemented if your child has a disability even if they are not receiving disability benefits. For more information, talk to a genetic testing company.