What to Know About 22q11.2 Deletion Syndrome & Fertility
What to Know About 22q11.2 Deletion Syndrome & Fertility
For many facing fertility struggles, the path to parenthood can be filled with obstacles. Adding to the complexity of this journey, some individuals may have a genetic condition called 22q11.2 Deletion Syndrome (22q11.2DS), which can pose unique challenges when trying to conceive.
Understanding 22q11.2 Deletion Syndrome
Prenatal screening can help identify if a baby is more or less likely to be born with common chromosomal conditions. Though we have made significant progress in ensuring all women across the country have access to top-notch non-invasive prenatal screening 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.
22q11.2DS, the most common cause of DiGeorge syndrome, is a genetic condition caused by a small piece of missing material on chromosome 22. It can result in a wide range of health-related issues. 22q11.2DS can lead to congenital heart defects, poor immune system, abnormalities of the palate, kidney differences, speech difficulties, and learning disabilities.
22q11.2DS is estimated to occur in 1 in 2,000 live births, making it comparable in frequency – or even more frequent – than some genetic conditions already routinely screened for during pregnancy. Early identification of the condition can help optimize care plans including medical and surgical interventions in the newborn period, which is why prenatal screening for 22q is so critical.
Fertility Challenges and 22q11.2DS
There is limited data on the impact of 22q11.2DS on reproductive health. Since carriers are at high risk for passing this onto their children, counseling and support is highly encouraged. Individuals living with 22q wanting to become parents should consider the following:
Preconception Counseling: Seek preconception counseling with a healthcare provider who specializes in genetic conditions like 22q11.2DS. They can provide insights into potential risks and offer guidance on optimizing your chances of a healthy pregnancy.
Genetic Counseling: Consider genetic counseling to understand the risk of passing 22q11.2DS to your child. Advances in genetic testing and embryo screening can provide valuable information and options, such as preimplantation genetic diagnosis (PGD).
Fertility Treatments: Depending on the specific fertility challenges you face, assisted reproductive technologies such as in vitro fertilization (IVF) or intrauterine insemination (IUI) may be viable options. Third party–assisted ART are also valid options.
Navigating Prenatal Screenings for 22q11.2 Deletion Syndrome:
Early Screening is Key: Traditionally, a diagnosis of 22q11.2DS does not occur until a child reaches approximately four years of age. This results in missed opportunities for essential clinical care and early intervention services that could significantly enhance outcomes. Early detection may also facilitate delivery in a birth hospital with a higher-level neonatal nursery, ensuring immediate access to pediatric specialists for necessary interventions and comprehensive neonatal care.
Inquire About Specific Tests: It's crucial to inquire about tests designed to screen for 22q11.2DS, such as non-invasive prenatal tests (NIPT).
Knowledge is Power: Conduct research and gather information about 22q11.2DS to engage in meaningful conversations with your healthcare team and make informed decisions. A valuable starting point is the website 22q.org.
Seek Support: Connect with support networks, both online and in-person, for individuals and families affected by 22q11.2DS. Sharing experiences and knowledge can provide emotional support and valuable insights. Support networks for possible high-risk pregnancy and/or delivery support are encouraged too.
Navigating the journey to conceive with 22q11.2DS may present unique challenges. With proper medical guidance, fertility treatments, genetic counseling, and a strong support network, individuals and couples affected by 22q11.2DS can embark on a successful parenthood journey.
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.
