Empowering Families with Knowledge and Choices through Genetic Counseling and Testing
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We take a look at the options for genetic diagnosis in a baby, both prenatally and following birth. We understand more about the different steps of this important process, and understand more about which symptoms might trigger the need for genetic diagnosis in an infant.
Every cell in the body, or at least almost every cell, contains 23 pairs of chromosomes. This gives each person 46 chromosomes in total. Half of these come from the Mother, with the remaining half coming from the Father.
If you’re an expectant parent, first of all, congratulations! Your journey to becoming a mom or dad has begun. You’re probably in the early stages of pregnancy, and you’re getting so much information and adding so much to your pregnancy to-do list that your head is spinning. Keep calm and read on. We’ll do our best to make it clearer and less confusing.
The purpose of genetic testing for children is to understand more about a child’s genetic health. Screening may identify their potential risk for developing a rare disease, it may identify them as a potential carrier of a genetic or chromosomal mutation, or it may confirm a rare disease diagnosis.
Angelman syndrome is a rare disease caused by mutations on specific genes. The syndrome is inherited through a process known as microdeletion inheritance, meaning the deletion of several genes on a chromosome. Uniparental disomy also plays a role in causing Angelman. This occurs when both copies of a chromosome pair are received from one parent, instead of one copy from each parent.
Genetic testing for Down syndrome may take different forms, depending on why and when the testing is conducted. Generally, the majority of genetic Down syndrome testing takes place prenatally, before an infant is born.
There is no current genetic test available to diagnose autism. The exact cause of autism is still unknown, and up to 100 genes have been found to have some link to autism, but no single one has been identified as responsible for causing it. There is also the contribution of possible environmental features to it as well. Is autism genetic, is a question that just can not be answered currently.
There are a number of cases when genetic testing of a baby might be recommended. Any parents, or parents-to-be, considering embarking down the route of undergoing genetic testing for their baby, either before or after birth, should first consult with a genetic counselor.
Genetic diagnosis is the process by which the genetic makeup of an individual is examined, in order to identify or isolate gene or chromosomal changes that might place them at higher risk for developing a rare disease, or confirm a rare disease diagnosis.