Prenatal Screening and 22q11.2 Deletion Syndrome

Hey Mamas,

Becoming a mom is without question one of the most important and extraordinary journeys we will ever experience. And although the depth of joy and love we feel after becoming a mom is unmatched, the nervousness and worry are too. 

From the moment we discover we’re expecting, our thoughts are consumed by our baby’s well-being. While we may be taking all the right steps – eating well, staying active, and getting enough rest – there’s another crucial aspect that demands our attention: prenatal screenings. After we learned  about a common genetic condition many of us had never even heard of before, we knew we had to immediately share this information with all of you. 

Prenatal screenings help determine if the baby has a possibility of being born with a genetic condition or birth defects. There have been tremendous advancements made in this technology – most notably noninvasive prenatal testing (NIPT) options that pose no risk to the fetus and only uses blood samples from the mother to analyze the baby’s DNA – that have allowed for more accurate and effective screens for genetic conditions.

While more women than ever have access to NIPT options, many providers do not screen for common conditions beyond trisomy 21 (more commonly known as Down Syndrome), trisomy 18 and trisomy 13. One specific condition that is rarely screened for is 22q11.2 deletion syndrome (22q). 22q is caused by a small piece of missing material on chromosome 22 resulting in the loss of about 50 genes that can lead to multiple birth defects, including congenital heart defects, abnormalities of the palate and kidney differences. It can also cause multiple medical problems such as a poor immune system, feedback and swallowing difficulties, and low calcium levels that can lead to seizures. 

22q11.2 deletion syndrome is estimated to occur in 1 in 2,000 live births, making it comparable in frequency to some genetic conditions routinely screened for during pregnancy. While there is currently no cure for 22q, early identification of the condition and early treatments can optimize care plans including medical and surgical interventions in the newborn period, which is why prenatal screening for 22q is so critical.

We broke it down for you to easily copy and paste to share with your doctor, your girlfriends, your family or anyone else you think it may help!

The Critical Need for Access to Early Detection of 22q11.2 Deletion Syndrome: 

  • Early Intervention is crucial: Prenatal screening tests, such as NIPT, can help identify 22q11.2 deletion syndrome during pregnancy. Detecting this condition early allows you to work with your healthcare professionals to create a tailored care plan, ensuring your baby receives the appropriate medical and surgical interventions as soon as they arrive.
  • Preparing emotionally: A prenatal diagnosis of 22q can be overwhelming. However, knowing about the condition before birth gives you the time and resources to emotionally prepare for what lies ahead. You can connect with support groups, gather information, and build a network of individuals and healthcare providers who understand and share your journey.
  • Collaborative care: Early detection of 22q11.2 deletion syndrome  paves the way for collaborative care between you, your healthcare provider, and specialists who can immediately address the specific needs of a child with 22q. This coordinated approach ensures that you’re well-equipped to handle any challenges that may arise.

Navigating Prenatal Screenings for 22q11.2 Deletion Syndrome:

  • Screen Early: Currently, a diagnosis of 22q does not usually occur until a child is about four years old. That means years of missed opportunities for the appropriate clinical care and early intervention services that could have led to improved outcomes. This includes, for example, delivery in a birth hospital  with a higher-level nursery to ensure pediatric specialists are available to provide necessary interventions and coordinated neonatal care. 
  • Ask About Specific Tests: Be sure to ask about tests that specifically screen for 22q11.2 deletion syndrome, such as NIPT, that focus on identifying markers associated with the condition.
  • Educate Yourself: Knowledge is empowering. Research and gather information about 22q11.2 deletion syndrome so you can have meaningful conversations with your healthcare team and make informed decisions. is a good place to start.
  • Reach Out for Support: Connecting with other parents who have children with 22q11.2 deletion syndrome can provide invaluable insights and emotional support. Online communities and local support groups can offer a safe space to share experiences and resources.

Prenatal screenings are an essential tool on your journey to motherhood, especially when it comes to detecting genetic conditions like 22q11.2 deletion syndrome. By embracing these screenings and supporting access to early detection of 22q11.2 deletion syndrome for ALL pregnancies, you’re taking proactive steps to ensure the best possible start for every child. 

Knowledge is a difference-maker, a beacon of hope, and with it, you’re equipped to provide your little one with the love, care, and support they need to thrive on their unique path.

Medical Disclaimer:
The information provided in this blog is intended for general informational purposes only and should not be considered as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your healthcare provider or qualified medical professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in this blog.

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