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Coping With a Trisomy 18 Diagnosis

A pregnancy journey is often unique, and in addition to the shock that might have come with learning you were pregnant, you may have found yourself surprised by the news of an adverse prenatal diagnosis. The news of Trisomy 18 can be an emotionally overwhelming revelation, and you may want to give yourself time to process this development. It’s normal for women in this situation to desire answers.  So, where do you turn next when coping with a Trisomy 18 diagnosis?

If a life-limiting prenatal condition, such as Trisomy 18, has left you wondering how to cope, Avenue Women’s Center is here for you. An adverse diagnosis may have caused you to consider your pregnancy options, even after you thought you had a plan in place. Avenue offers free education and support regarding a pregnancy decision. Learn more about your options in a confidential, caring environment. 

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What Is Trisomy 18?

Sometimes referred to as Edwards Syndrome, Trisomy 18 is typically caused by a cell division error. This means a third copy of chromosome 18 is created and can interfere with the pregnancy’s health. While this may seem like a lot to take in, to understand the condition, it should be noted there is more than one type of Trisomy 18.

Full Trisomy 18: This is a common form that the chromosomal abnormality takes. In this case, the extra chromosome often appears in every cell of the body.

Partial Trisomy 18: In this scenario, part of an extra chromosome may be present, but this tends to be rare. Sometimes, a part of chromosome 18 attaches to another chromosome before or after conception. People who have this may have two copies of chromosome 18 as well as an additional bit of material from chromosome 18.

Mosaic Trisomy 18: When an extra chromosome is present in a few cells, mosaic Trisomy 18 may occur. Though this does not happen often, this random occurrence may happen during cell division.

Are There Symptoms Associated With Trisomy 18?

People who have Trisomy 18 may have several physical defects. As you gather information about the symptoms, it’s recommended you work with a healthcare provider about what your next steps may be.

Some of the conditions associated with Trisomy 18 typically include:

  • A cleft palate
  • Overlapping fingers
  • Lung, kidney, stomach, and intestinal defects
  • Deformed feet
  • Difficulty feeding
  • Upper atrial septal defect or lower ventricular septal defect
  • Developmental Delays
  • Chest deformities
  • Small jaw and/or head

How Is It Detected?

An ultrasound exam may lead a doctor to suspect Trisomy 18, but this is not always the most reliable way of diagnosing it. Amniocentesis or chorionic villus sampling may be required in order to properly analyze the chromosomes. After delivery, a healthcare provider may be able to properly assess if Trisomy 18 is present if there are facial and bodily deformities.

What Are My Options?

Learning about an adverse diagnosis can be devastating, and that’s why it’s recommended you seek support during this time. In addition to surrounding yourself with positive personal relationships, you may want to begin working with a professional resource. By speaking with someone who is trained to supply you with information, they can offer guidance through this challenging period.

At this time, there is no definite cure for Trisomy 18. But you can communicate with a professional to see what path may work best for you.

  • What questions do I still have about this abnormality?
  • If I’m considering abortion, do I understand my state’s abortion laws and how much the procedure may cost?
  • Are there supportive medical care options I may want to look into, such as perinatal hospice care?

The news of a life-limiting diagnosis can lead to a mixture of emotions. Deciding how to proceed can be hard, but working with compassionate resources can assist with forming a plan.

Are you wondering what you should do after receiving news about an adverse diagnosis? Avenue Women’s Center is here to offer support and ensure you have access to accurate information. Our caring staff will sit down with you for a discussion, where you can have your questions answered within a confidential environment.

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Reviewed by Patricia Kuenzi, APN-CNP, MSN, ANP, PNP.

The information provided here is general in nature.  It is not a substitute for a consultation with a medical professional. Before any medical procedure, it is imperative that you discuss your personal medical history, risks, and concerns with your doctor. If you have questions during or after a procedure, your doctor should be immediately contacted. Avenue Women’s Center is not an emergency center.  If you are experiencing severe symptoms, such as bleeding and/or pain, seek immediate medical attention.  Contact your physician, go to an emergency room, or call 911.