Familial Dysautonomia

What is UNITY Fetal Risk™ Screen for familial dysautonomia?

UNITY Fetal Risk Screen is a carrier screening and fetal risk assessment for your pregnancy all in one convenient blood test. The first step is identifying if you are a carrier for familial dysautonomia. If you are not a carrier for familial dysautonomia, your baby’s risk of having familial dysautonomia is extremely low. 

If you are a carrier and currently pregnant, UNITY Fetal Risk Screen will automatically perform a fetal risk assessment using cfDNA to tell you if your baby’s risk of having familial dysautonomia is high or low. 

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What is familial dysautonomia?

Familial dysautonomia is an inherited condition that affects the autonomic nervous system. Symptoms are often present at birth and can include poor sucking ability, difficulty swallowing, weak muscle tone, unstable blood pressure, and abnormally low body temperature. Crying without tears is one of the most striking symptoms of familial dysautonomia. 

Children with familial dysautonomia have a decreased sensitivity to pain and lack of sensitivity to hot and/or cold temperatures. This decreased pain and temperature sensitivity can result in unnoticed injuries to the skin or bone fractures. Other symptoms of familial dysautonomia may include the absence of the sense of taste, speech delays, and scoliosis. 

While there is no cure for familial dysautonomia, treatments focusing on managing symptoms and improving quality of life can help individuals live longer and healthier lives. Those with familial dysautonomia may have a shorter life expectancy, often living into their 30s or beyond with proper medical and supportive care. 

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How is familial dysautonomia inherited?

Familial dysautonomia is an autosomal recessive condition. This means that a person must inherit two non-functional ELP1 genes, one from each of their parents, to be affected with familial dysautonomia. Parents who carry one functional gene and one non-functional gene are known as carriers and typically show no symptoms.

If both parents are carriers of familial dysautonomia, there is 25% chance with each pregnancy that their child will inherit two non-functional genes and develop familial dysautonomia, a 50% chance that their child will inherit one non-functional gene and be a carrier like their parents, and a 25% chance that their child will inherit two functional genes and not be affected or a carrier.

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Who should consider familial dysautonomia screening? 

Carrier screening for familial dysautonomia is recommended for anyone planning to start a family or those who are already pregnant that have Ashkenazi Jewish, French-Canadian or Cajun ancestry and/or family history of familial dysautonomia. 

UNITY Fetal Risk Screen is a simple blood test to determine your carrier status and the risk of having a baby with familial dysautonomia. If your results show a high risk of any of the conditions screened, you can discuss additional testing either before or after your delivery with your healthcare provider or one of our genetic counselors. 

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UNITY Fetal Risk Screen Carrier Screening & Fetal Risk Assessment (cfDNA for recessive conditions) workflow

Test as early as 9 weeks

Your blood sample can be collected in the doctor’s office, at a local lab, or through our mobile services. Your blood sample is shipped to our CAP/CLIA certified laboratory in northern California.

UNITY Aneuploidy™  Screen + UNITY Fetal RhD™  and Fetal Antigen™  results as early as 10 weeks
Within about one week from lab receipt, your doctor will receive the baby’s risk score for aneuploidies (chromosome conditions) and fetal RhD and fetal antigens (if added). You will receive a text or email indicating your results are available on our portal, or your healthcare provider may call you with the results.

Carrier status + fetal risk assessment results as early as week 11
Within about two weeks from lab receipt, your doctor will receive the results of your maternal carrier status testing and fetal risk assessment. If you were found to be a carrier for any of the recessive conditions, fetal risk assessment is automatically run to determine your baby’s risk of being affected. You will receive a text or email indicating your results are available on our portal, or your healthcare provider may call you with the results.

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What do familial dysautonomia screening results mean?

Your UNITY Fetal Risk Screen results will tell you if you are a carrier for familial dysautonomia, or other recessive conditions. Then, if you are currently pregnant and a carrier for one or more of the conditions screened, a fetal risk assessment using cfDNA will automatically be performed on your sample. Your UNITY Fetal Risk Screen report will show your baby's risk for being affected with familial dysautonomia. 

If your results show a high-risk, your healthcare provider will discuss the recommended confirmatory testing that can be performed before or after delivery.

UNITY Fetal Risk Screen results are not diagnostic, so there is always the option for additional confirmatory testing to be performed. You can discuss your options and recommendations with your provider or one of our genetic counselors:

• Before Birth:
  Testing during pregnancy can be performed by obtaining a sample of placenta (chorionic villus sampling or CVS) or fluid around your baby (amniocentesis) which both contain DNA that is representative of your baby.  A CVS is ideally performed between 10 to 13 weeks in pregnancy while an amniocentesis is typically performed between 15 to 24 weeks in pregnancy.  Both procedures are generally safe, but have a small risk for pregnancy complications, including miscarriage.

• After Birth: 
  Testing for your baby can be performed after birth through a blood test as a newborn or with your baby’s pediatrician. 

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Frequently Asked Questions

Is there a cure for familial dysautonomia?
There is no cure for familial dysautonomia, but treatment focuses on managing symptoms and improving quality of life. This may include medications to regulate blood pressure, physical therapy to improve mobility, feeding support for nutrition, and respiratory therapies. Regular monitoring by a multidisciplinary medical team, including neurologists, cardiologists, and gastroenterologists, is essential for optimizing care.

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What is the life expectancy of someone with familial dysautonomia?
Life expectancy for individuals with familial dysautonomia has improved significantly due to advances in medical care. With many individuals living into adulthood with careful management. However, complications such as respiratory infections, aspiration pneumonia, or cardiovascular issues can impact long-term health. 

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How can familial dysautonomia affect pregnancy and childbirth?

There may be no signs of familial dysautonomia on an ultrasound. However, some babies with familial dysautonomia may have decreased fetal movement throughout the pregnancy. In some cases, there may be polyhydramnios (excess amniotic fluid), as babies with this condition can have difficulty swallowing in utero. After birth, babies with FD may require specialized medical care, particularly for feeding difficulties, breathing support, and autonomic instability.

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Treatment & Resources

• National Organization of Rare Diseases
• Familial Dysautonomia Foundation, Inc.
• Mediline Plus