Genetic Testing

Diving into motherhood or curious about your genes? Genetic testing reveals insights on hereditary conditions, helping guide your health choices. Discover your DNA's tale and walk confidently towards wellness.

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What is Genetic Testing?

Genetic testing is a medical procedure that examines changes in chromosomes, genes or proteins. It can either confirm or dismiss a suspected genetic condition or determine an individual’s likelihood of developing or transmitting a genetic disorder. Primarily during pregnancy, women are presented with the option of undergoing genetic testing. 

It is essential for those with a personal or family history of genetic disorders or birth defects, or those on medication during pregnancy, to inform their healthcare provider. This could lead to a direct referral to a genetic counselor.

It's vital to understand that genetic testing is optional. While it provides numerous advantages, it also comes with certain limitations and risks. The decision to undergo testing should be personal, influenced by individual values, beliefs and experiences. 

What is Prenatal Genetic Testing?

Prenatal genetic testing provides information to prospective parents about the likelihood of their fetus having certain genetic disorders. There are two primary types of prenatal tests:

  • Prenatal screening tests: These tests provide probabilities of the fetus having aneuploidy and a few other disorders.
  • Prenatal diagnostic tests: These tests confirm if the fetus indeed has certain disorders. They are conducted on fetal or placental cells obtained via amniocentesis or chorionic villus sampling (CVS).

Both these testing methodologies are available to all pregnant women.

Rest assured, a team of experts is available to provide information on all tests and answer any questions. 

What is the general risk of genetic abnormalities?

Every individual, irrespective of age, ethnicity or family history, has a 2-3% chance of giving birth to a child with a birth defect and a 1-2% risk of having a child with an intellectual disability. Fortunately, most pregnancies result in the birth of a healthy baby. Genetics can be intricate, but resources, like educational videos, are available to simplify and provide a better understanding.
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What are genetic disorders?

Genetic disorders arise from changes in an individual's genes or chromosomes. They can be due to conditions like aneuploidy, where chromosomes are either missing or extra. Trisomies and monosomies are examples of such conditions. Inherited disorders, on the other hand, stem from gene mutations and include diseases like sickle cell disease, cystic fibrosis, and Tay-Sachs disease. For an affected child to be born, both parents typically need to carry the same gene mutation.
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Specific Prenatal Genetic Screening Tests

First-trimester screening: This involves a blood test and an ultrasound exam, usually conducted between 10 and 13 weeks of pregnancy. The ultrasound, known as nuchal translucency screening, assesses the risk of the fetus having conditions like Down syndrome.
Second-trimester screening: Done between 15 and 22 weeks of pregnancy, this includes the "quad" blood test and an ultrasound exam to check for major physical defects.
Combined First- and Second-Trimester Screening: This combines results from both trimesters to provide a more accurate assessment.
Cell-free DNA Testing: Beginning at 10 weeks of pregnancy, this test screens for disorders like Down syndrome by analyzing the DNA from the placenta present in the mother's bloodstream.
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What is Carrier Screening?

Carrier screening (also called carrier testing) determines if there's an elevated chance for offspring to inherit conditions like cystic fibrosis. Screening is generally conducted using blood or saliva samples with results available in 2-3 weeks. If both partners are carriers, prenatal diagnosis can determine the baby's disease status and procedures like preimplantation genetic diagnosis (PGD) can be considered.
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