AN OVERVIEW OF GENETIC SCREENING AT A DENVER FERTILITY CENTER

What Is Genetic Screening?

Genetic screening is a process used to examine a patient DNA, which is a chemical compound that carries details of your body’s functions. This process can reveal any changes or alterations that may be found in your genes which may cause diseases or illness.

Genetic screening gives crucial information for treating, preventing and diagnosing illness. However, it has some limitations. For instance, a positive genetic screening does not always mean that a person will develop a disease. On the other hand, a negative screening result does not guarantee an individual that he or she will not get a certain disorder.

How Do I Prepare For Genetic Screening?

Before you undergo genetic screening, you should check with your health insurance provider to see if they cover the test.

Then try and get more information about the medical history of your family. Discussing this with a genetic counselor or your Denver fertility specialist to provide an overview of the risks involved

What are the different Types of Genetic Screening tests?

Genetic testing is done to check different conditions. The tests include:

Prenatal testing: The screening helps to detect abnormalities in the unborn baby genes. Sex chromosome abnormalities, Trisomy 18 and Down syndrome are the genetic disorders often screened at this stage.  This testing can be done with a blood test on the mother (fetal Free DNA testing) or an amniocentesis.  The amniocentesis is considered the gold standard.

Newborn screening: screening is very in this stage to help detect phenylketonuria PKU and hypothyroidism, and proper treatment and care can start immediately.

Preimplantation screening: Screening is done when you want to conceive through in vitro fertilization. The embryos are taken through the genetic abnormalities screening and those with no abnormalities are used for implantation.

Carrier testing: This test is done if your family has a history of cystic fibrosis, sickle cell anemia, or you live in an environment with a high risk of a genetic disorder. The test can detect genes linked with a variety of mutations and diseases. Most current Carrier panel screening will screen individuals for up to 200 or more common genetic diseases using microarray technology.

Pharmacogenetics: The test helps to establish the kind of medication and dosage that is beneficial and efficient if you already have a particular disease or health condition.

Diagnostic testing: The test helps to identify disorders that may be caused by genetic alterations such as a Charcot-Marie-Tooth, polycystic kidney and iron overload.

Predictive or presymptomatic screening: This test will help identify if you are at a risk of developing a genetic issue that runs in your family.

What do I expect after the Screening Test?

The doctor will perform a genetic test depending on the nature of test, blood sample, amniotic fluid, skin and other tissues sampled and sent to the lab for analysis. The following are some of the tests to be carried out:

Amniocentesis: This prenatal test relies on the amniotic fluid sample provided. The doctor uses a hollow needle to draw a little amount of fluid from your uterus.

Blood sample: A health practitioner will take a blood sample from you’re the main vein on your arm while for a newborn, blood samples will be taken by pricking the baby’s heel.

Chronic villus sampling: The Colorado fertility doctor gets a tissue from the placenta and does the genetic screening.

Cheek swab: In some cases the doctor will collect a cheek’s swab sample is to carry out the genetic screening.