Amniotic fluid chip deficiency issue?
Dear Doctor,
I recently underwent amniocentesis, and it was found that my baby girl has a deletion of a 252 kb segment on the long arm of chromosome 7 at the 7q11.22 region (69,521,716_69,773,395), which happens to be within the AUTS2 gene, encompassing the 3rd and 4th exons near the 5' end.
There are two published studies discussing the clinical implications of such deletions.
If there is a large deletion of the AUTS2 gene or a deletion at the 3' end, it may lead to clinical symptoms such as intellectual disability, autism, and language development delays.
In contrast, deletions of smaller segments at the 5' end tend to have milder clinical symptoms.
I am very concerned about how this deletion might affect my baby's health and its severity.
I am unsure of what steps to take next and would appreciate any advice you could provide.
Thank you.
I would also like to discuss this in person.
Currently, I am 19 weeks and still awaiting the results of the parental blood tests.
Peggy, 20~29 year old female. Ask Date: 2018/05/28
Dr. Chen Ming reply Rare Disease
Please call 04-7238595 extension 7244 to arrange an outpatient appointment.
Wait for the results for your parents to come in together.
Reply Date: 2018/05/28
More Info
The deletion of a segment on chromosome 7, specifically at the 7q11.22 region, can have significant implications for a baby's health, particularly when it involves the AUTS2 gene. This gene is associated with various neurodevelopmental disorders, and its deletion can lead to a range of clinical symptoms, including intellectual disabilities, autism spectrum disorders, and language development delays.
In your case, the deletion is a 252kb segment that encompasses parts of the AUTS2 gene, particularly the 5' end, which is associated with milder clinical symptoms compared to larger deletions or those affecting the 3' end. The literature suggests that while there is a risk of developmental issues, the severity can vary significantly based on the size and location of the deletion.
It's understandable to feel anxious about the potential impact of this genetic finding on your baby's health. Here are some important considerations and recommendations:
1. Genetic Counseling: It is crucial to consult with a genetic counselor who can provide you with detailed information about the implications of the deletion. They can help interpret the results in the context of your family history and discuss the likelihood of developmental issues based on current research.
2. Monitoring Development: If your baby is born with this deletion, it will be important to monitor her developmental milestones closely. Early intervention can be beneficial. Pediatricians often recommend regular developmental screenings to identify any delays early on, allowing for timely support and resources.
3. Early Intervention Services: If developmental delays are identified, early intervention services can provide support tailored to your child's needs. These services may include speech therapy, occupational therapy, and special education resources, which can significantly improve outcomes for children with developmental challenges.
4. Support Networks: Connecting with support groups for parents of children with similar genetic conditions can be invaluable. These groups can provide emotional support, share experiences, and offer practical advice on navigating the challenges that may arise.
5. Research and Updates: Stay informed about ongoing research related to the AUTS2 gene and its implications. The field of genetics is rapidly evolving, and new findings may provide additional insights into the condition and potential interventions.
6. Parental Support: It’s also important to take care of your own mental health during this time. The uncertainty surrounding genetic findings can be stressful, so seeking support from friends, family, or mental health professionals can be beneficial.
7. Follow-Up Testing: Depending on the results of the parental blood tests you are awaiting, further genetic testing may be recommended to understand the inheritance pattern and any additional risks.
In summary, while the deletion at 7q11.22 involving the AUTS2 gene may pose risks for developmental challenges, the severity can vary. Engaging with healthcare professionals, particularly genetic counselors and pediatric specialists, will provide you with the best guidance tailored to your situation. Early monitoring and intervention can make a significant difference in your child's development, so proactive steps are essential. Remember, you are not alone in this journey, and there are resources available to support you and your family.
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