Chromosome 11 abnormality add(11)(q24.2)dn
Hello Dr.
Chen, my amniotic fluid report indicates 46,XY,add(11)(q24.2)dn, stating that one of the chromosome 11 long arms from 24.2 to the end has been replaced by an unknown chromosomal fragment.
The results from the second blood draw show that this is not inherited from the parents.
We are scheduled for a high-level ultrasound on the 15th.
If the high-level ultrasound shows no abnormalities, can I request another chromosomal test? Since I am already 21 weeks along, is it possible to perform a direct cord blood sampling? This baby was conceived through in vitro fertilization after five years of marriage, and I am very reluctant to make a determination based solely on the amniotic fluid results.
I have researched and found that the closest and most severe condition seems to be Jacobsen syndrome (deletion of chromosome 11q23 and beyond), but my test results do not seem to fully align with that (the report states "add" and "replaced").
I feel very confused about the situation and hope you can provide some clarity.
Thank you!
Ms. Wu, 30~39 year old female. Ask Date: 2015/09/14
Dr. Chen Ming reply Rare Disease
I would like to schedule an in-person discussion this Thursday or Friday afternoon.
Reply Date: 2015/09/14
More Info
Understanding chromosome abnormalities, particularly those involving chromosome 11, can be quite complex and understandably concerning, especially in the context of pregnancy. The report you received indicates a specific alteration on chromosome 11, noted as "46,XY,add(11)(q24.2)dn." This means that there is an addition (or duplication) of genetic material at the long arm (q) of chromosome 11, specifically at the 24.2 region. The term "dn" typically refers to a de novo mutation, which means that this change was not inherited from either parent.
Your concern about the implications of this finding is valid, especially since you have been through the challenges of infertility and are now expecting a child. The fact that the second blood test did not show any inherited abnormalities from the parents is a positive sign, as it suggests that this chromosomal change is not a result of genetic material passed down from you or your partner.
Regarding your question about further genetic testing, particularly after the high-resolution ultrasound scheduled for the 15th, it is indeed possible to pursue additional testing if the ultrasound does not reveal any abnormalities. If you are considering further genetic testing, options may include non-invasive prenatal testing (NIPT), which analyzes fetal DNA circulating in the mother's blood, or more invasive procedures like chorionic villus sampling (CVS) or amniocentesis, which can provide more definitive information about the fetus's chromosomes.
As for your inquiry about cord blood sampling, it is generally not performed until after the baby is born. However, if there are significant concerns about the baby's health or genetic conditions, discussions with your healthcare provider about the timing and type of testing are crucial. Cord blood can be tested for various genetic conditions after birth, but it does not provide information about the fetus while still in utero.
You mentioned the possibility of a condition like Jacobsen syndrome, which is associated with deletions on chromosome 11. However, your report indicates an addition rather than a deletion, which may suggest a different clinical picture. Each chromosomal abnormality can have a wide range of effects, and the specific implications depend on the nature of the change and the genes involved.
It's essential to have open and ongoing discussions with your healthcare provider or a genetic counselor. They can help interpret the results in the context of your specific situation, provide guidance on the implications for your pregnancy, and discuss the best options for further testing. They can also help you understand the potential outcomes and what to expect moving forward.
In summary, while the findings on chromosome 11 are concerning, the absence of inherited abnormalities is a positive aspect. Further testing can provide more clarity, and your healthcare team is the best resource for navigating these decisions. Your emotional well-being is also important during this time, so consider seeking support from counseling services or support groups for parents facing similar challenges.
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