Abnormal Amniocentesis Results: What Does 47,XY+MAR Mean?

Normal sheep crystal, abnormal sheep puncture?

Hello Dr.
Tsao! I am Ms.
Liu.
I had a chorionic villus sampling (CVS) and amniocentesis at 17 weeks, and the results came back a week later! The CVS report was normal, but the amniocentesis showed an abnormality, 47,XY+mar.
My doctor said the baby has an extra chromosome, but that chromosome is not one of the 23 pairs.
I am very worried about whether my baby will be healthy.

Angela Liu, 30~39 year old female. Ask Date: 2021/08/15

Dr. Cao Guotao reply Obstetrics and Gynecology

Hello, there may still be some issues.
It is advisable to consult a geneticist for more appropriate guidance.
Wishing you good health.

Reply Date: 2021/08/15

More Info

Dear Ms. Liu,
Thank you for reaching out with your concerns regarding the results of your amniocentesis. I understand that receiving such news can be quite distressing, and I’m here to help clarify what the findings mean.

The report you received indicates "47,XY+MAR." This notation signifies that the fetus has a total of 47 chromosomes, which is one more than the typical 46 chromosomes found in a normal human karyotype. The "XY" indicates that the fetus is male, as males typically have one X and one Y chromosome. The "+MAR" part refers to the presence of a "marker chromosome." Marker chromosomes are additional chromosomes that cannot be identified as any of the standard chromosomes (1-22 and X and Y) based on their size or shape.

The presence of a marker chromosome can be concerning, as it may indicate a chromosomal abnormality. However, the implications of having a marker chromosome can vary widely. In some cases, marker chromosomes may not have any significant clinical impact, while in other instances, they can be associated with developmental delays, congenital anomalies, or other health issues. The specific effects depend on the nature of the marker chromosome, which is often difficult to determine without further testing.

It is important to note that the presence of a marker chromosome does not automatically mean that the baby will have health problems. Many individuals with marker chromosomes lead healthy lives, and some may never exhibit any symptoms or issues. However, the risk of potential complications can vary based on the specific characteristics of the marker chromosome.

Given the uncertainty surrounding the implications of the marker chromosome, it is advisable to pursue further genetic counseling and possibly additional testing. A genetic counselor can provide you with more detailed information about the potential risks and implications of the findings. They can also discuss options for further testing, such as a more detailed chromosomal analysis or non-invasive prenatal testing (NIPT), which can provide additional insights into the baby's genetic health.

In the meantime, it is essential to take care of your emotional well-being. It is completely normal to feel anxious or worried about the health of your baby, especially when faced with unexpected results. Seeking support from family, friends, or support groups can be beneficial during this time.

In summary, while the finding of "47,XY+MAR" indicates the presence of an additional chromosome, the specific implications for your baby's health can vary. It is crucial to follow up with a genetic counselor who can help you understand the results better and guide you through the next steps. Remember, you are not alone in this process, and there are resources available to support you.

Best wishes for you and your baby, and I hope you find the answers and reassurance you need.

Sincerely,
Doctor Q&A Teams

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