Trisomy 1q

Healthcare/Doctors

How do I find a center of excellence in trisomy 1q?

Currently, there are no Centers of Excellence for those with Trisomy 1q (aka 1q duplication). This is because it is so rare. However, there are a group of physicians one will likely need and those can be found at many health centers across the country.

If you are pregnant and your OB/GYN has noticed some findings on ultrasound, you'll like be referred to a maternal fetal medicine (MFM) doctor. These doctors specialize in pregnancies that require special care and attention. You may be offered testing to confirm a diagnosis during pregnancy. It may also be necessary to see a medical genetics team. They can help explain the results of the genetic testing.

If no work-up is completed during the pregnancy, after birth the newborn will likely be evaluated by a geneticist. This is a doctor that specializes in genetic conditions. Blood work may be done to diagnose the condition. The newborn will then be followed by other medical specialists as needed. For example, if the newborn has a heart defect they will see a cardiologist - a doctor that specializes in the heart.

Genetic counselors can also help to explain the condition to the family so they can better understand what to expect. Also, genetic counselors can help to explain how likely it is to happen again and if other family members would need to be tested.

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What specialist doctors should I see if my child has trisomy 1q?

What specialist doctors should I see if my child has trisomy 1q?

As there is no cure for those with trisomy 1q (aka 1q duplication), it is important for them to seek routine care from a variety of different specialists depending upon their symptoms.

If you are pregnant and your OB/GYN has noticed some findings on ultrasound, you'll like be referred to a maternal fetal medicine (MFM) doctor. These doctors specialize in pregnancies that require special care and attention. You may be offered testing to confirm a diagnosis during pregnancy. It may also be necessary to see a medical genetics team. They can help explain the results of the genetic testing.

If no work-up is completed during the pregnancy, after birth the newborn will likely be evaluated by a geneticist. This is a doctor that specializes in genetic conditions. Blood work may be done to diagnose the condition. The newborn will then be followed by other medical specialists as needed. For example, if the newborn has a heart defect they will see a cardiologist - a doctor that specializes in the heart.

Genetic counselors can also help to explain the condition to the family so they can better understand what to expect. Also, genetic counselors can help to explain how likely it is to happen again and if other family members would need to be tested.

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