shutterstock_1723848115_2jo0GfW..jpeg (shutterstock_1723848115.webp)Prenatal genetic testing is an important part of modern healthcare that can provide valuable information for expectant parents. However, the wide range of available tests and their implications can be confusing and overwhelming.

At Advanced Women's Care of Pittsburgh, we can help simplify this complex subject and provide clear guidance on what prenatal testing is and why it is important for your baby's health.

What is Prenatal Genetic Testing?

Prenatal genetic testing is a medical test that helps parents understand if their baby may have any genetic disorders or birth abnormalities. It is different from routine prenatal screening tests like blood type, blood count, or glucose screening. Prenatal genetic testing provides detailed information about the genes and chromosomes that make up our blueprint of life.

Genes, which are located within the cells of our bodies, carry the instructions for the functioning of our bodies, while chromosomes serve as the storage units for these genes. Genetic disorders can occur due to abnormalities in chromosomes or genes. 

Some congenital disorders, which are present at birth, can be diagnosed before the baby is born through prenatal diagnostic tests. The decision to undergo prenatal genetic testing is personal and should be discussed with a healthcare provider, taking into account individual circumstances and needs.

Types of Prenatal Genetic Testing

The variety of prenatal genetic tests may be broken down into two categories: genetic testing and carrier screening. It is important to understand that prenatal genetic screening tests do not diagnose genetic conditions. Instead, they identify whether there is a higher risk for certain genetic disorders in the fetus.

An abnormal result from these tests does not definitively mean that the baby will have a disorder. Instead, it indicates a higher risk, and further diagnostic testing may be recommended. Your healthcare provider is an essential resource in interpreting results from these screening tests and can guide you through the subsequent steps, which may include diagnostic testing for a more conclusive result.

Now, let's thoroughly discuss the differences between genetic screening and carrier testing.

  • Genetic Screening

    After a positive pregnancy test, promptly schedule your first prenatal appointment. Your healthcare provider will recommend tests to assess your health and your baby's well-being. Some tests detect genetic or health complications. These tests serve two purposes: ensuring timely medical care and providing information about potential health issues. Recommended tests may vary based on factors like age, ethnicity, and family medical history. Remember, genetic screenings are optional. Discuss with your healthcare provider to make an informed decision. The goal is to empower you with knowledge for any potential health challenges your baby may face.

    • Materni t21 Test 

      The Maternit21 test is a non-invasive prenatal screening (NIPT) that detects genetic anomalies. It identifies disorders like trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. NIPT is the recommended genetic screening by the American College of Obstetricians and Gynecologists (ACOG). The Maternit21 test also reveals the fetus's gender. Contact Integrated Genetics at 1-844-799-3243 before your blood work to determine any out-of-pocket costs. Avoid contacting your insurance as Integrated Genetics provides the most accurate information. Prenatal genetic testing empowers informed decision-making.

    • Serum Genetic Screening

      Serum Genetic Screening is a prenatal test that provides information about potential genetic disorders in your baby. While it's less sensitive than Non-Invasive Prenatal Testing (NIPT) like the Maternit21 test, it can still be useful. There are three types: the First Trimester Screen, the Quad Screen, and the Sequential Screen.

      The First Trimester Screen and Sequential Screen are done early in pregnancy, while the Quad Screen is usually done between the 15th and 20th weeks. These screens can assess the likelihood of genetic disorders like Trisomy 21 (Down Syndrome) and Neural Tube Defects.

      Remember, these are screening tests, not diagnostic tests. An abnormal result doesn't definitively mean there's a disorder, but indicates a higher risk. Further diagnostic testing may be recommended. Your healthcare provider can help you understand the results and guide you on next steps. Stay informed to make decisions about your baby's health.

    • MSAFP Test 

      MSAFP stands for Maternal Serum Alpha-Fetoprotein. It's a protein produced by the baby's liver and found in the mother's blood. It's a screening test done between the 15th and 20th week of pregnancy to measure alpha-fetoprotein levels in the mother's blood. 

      High levels may suggest neural tube defects like spina bifida or anencephaly, while low levels could indicate chromosomal abnormalities such as Down syndrome. Remember, abnormal results indicate a higher risk, not a definitive diagnosis. Consult your healthcare provider for guidance and further testing if needed. Stay informed and make decisions about your baby's health with their support.

  • Carrier Screening

    Carrier screening is a test that determines if an individual carries a gene change that could increase the risk of having a child with a genetic disease. This non-invasive test, which can be done using blood or saliva, is offered to all pregnant individuals or those considering pregnancy. It helps identify if there is a higher chance of having a child with certain genetic conditions.

  • It's important to understand that everyone carries genetic changes, even if they have a healthy family history. These changes, also known as mutations or variants, can be present in our genes. Most conditions identified through carrier screening are recessive disorders. In these cases, both biological parents must carry the same condition for there to be a risk of having an affected pregnancy.

  • It's worth noting that a genetic condition only affects a pregnancy or child if both parents carry the same condition and pass down their genetic change.

    • Cystic Fibrosis

      Cystic fibrosis screening is a one-time blood test that checks the carrier status of the mother. If the mother is identified as a carrier, the father should also undergo testing. This screening is typically performed during the first pregnancy and helps determine the likelihood of passing on the CFTR mutation.

    • Spinal Muscular Atrophy

      Spinal Muscular Atrophy (SMA) screening is a crucial part of prenatal genetic testing. It involves a blood test to check if the mother carries a gene mutation linked to SMA. If the mother is a carrier, it's recommended for the father to undergo testing too. This screening is typically done once in a lifetime, usually during the first pregnancy. The purpose is to assess the risk of passing on the SMA gene mutation to the baby. Being a carrier doesn't guarantee having a child with SMA, but it increases the chances if both parents carry the same gene mutation. Consult your healthcare provider for a better understanding of the results and to discuss next steps.

    • Fragile X

      Fragile X Syndrome is a genetic condition that can cause developmental issues, including intellectual disabilities similar to autism. While not life-threatening, there is currently no cure. It is inherited through a gene mutation and the Fragile X screening identifies carrier parents, important for those planning to start a family. Being a carrier doesn't mean experiencing symptoms, but increases the likelihood of passing the mutation to offspring. This screening is essential for proactive healthcare and understanding genetic risks for future children's health.

Why Might You Want Prenatal Genetic Testing?

The decision of whether to undergo prenatal genetic testing is deeply personal and ultimately rests with each individual parent. However, it is crucial to consider the potential advantages that accompany this choice. 

By anticipating health risks and genetic disorders, parents-to-be and healthcare professionals can make informed decisions that maximize the well-being of the baby. In this discussion, let us delve into the significance, types, and intricacies of prenatal genetic testing, aiming to enhance understanding while maintaining the original intent.

  1. Early Detection of Genetic Disorders: Prenatal genetic testing can identify potential genetic disorders in the early stages of pregnancy. This gives parents and doctors time to prepare for any necessary treatments or interventions that may be required upon the baby's birth.
  2. Informed Decision Making: The testing can help parents make informed decisions about their pregnancy. If a severe genetic disorder is detected, parents can have the time and information necessary to discuss potential outcomes, treatments, and care options.
  3. Preparation for Special Needs: If testing indicates that a baby will have special needs, parents have time to prepare emotionally, physically, and financially. They can also learn about the condition and connect with support groups and resources before the baby arrives.
  4. Healthcare Optimization: The information from prenatal genetic testing allows healthcare providers to optimize care. They can plan for a safer delivery or immediate medical intervention at birth if required, improving outcomes for both the mother and baby.
  5. Family Planning: The results of prenatal genetic testing can also inform future family planning decisions. It can reveal if parents are carriers for certain genetic disorders, providing valuable information when considering future pregnancies.

Limitations of Prenatal Genetic Testing

Prenatal genetic testing provides valuable insights, but it's important to recognize its dual nature. This powerful tool has benefits, risks, and limitations. We will explore the lesser-discussed aspects to gain a comprehensive understanding of prenatal genetic testing. Let's find out the nuances that make this field captivating and challenging.

Limitations in Predictability and Accuracy

While prenatal genetic testing can provide valuable insights into a baby's health and development, it's important to understand that these tests do not have 100% accuracy. False positives, while rare, can occur. Similarly, these tests cannot predict every potential genetic disorder or anomaly. Certain rare conditions might not be detectable, and some tests are more limited in scope than others.

The Emotional Impact of Results

Receiving news of a potential genetic disorder or health issue in an unborn child can be emotionally challenging. It's important to be prepared for this possibility and to have a support system in place.

Understanding Your Prenatal Genetic Testing Results

Interpreting prenatal genetic test results can be challenging for many parents. These results are often filled with complex medical terms, making it difficult for non-medical individuals to fully understand them. This lack of understanding poses significant challenges, leaving parents unsure about the implications and next steps to take. It is vital to address this issue and provide guidance to ensure informed decision-making regarding pregnancy and the well-being of the baby.

For first-time pregnant women, it is crucial to receive genetic testing from a compassionate, experienced, and highly qualified specialist. These specialists provide invaluable support by interpreting test results, offering emotional guidance, and assisting parents in making informed decisions. It is important to remember that there are support groups and resources available to prioritize the baby's health.

Providing Prenatal Genetic Testing Near You in Pittsburgh

If you are expecting a child and are concerned about your baby's health, the Advanced Women's Care team at our facility is here for you. We offer comprehensive prenatal genetic testing services, designed to provide you with the information you need to make informed decisions for your baby's health. 

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Get in touch with us today for more information about our advanced prenatal genetic testing services.