PMM2-Congenital Disorder of Glycosylation
UNITY Fetal Risk™ Screen provides an accurate fetal risk estimate for PMM2-congenital disorder of glycosylation without requiring a partner sample, as early as 9 weeks of pregnancy. PMM2-congenital disorder of glycosylation is a rare metabolic condition that affects multiple organ systems, leading to developmental delays, poor muscle tone, coordination issues, and organ dysfunction. While there is no cure, treatments focus on symptom management, and new therapies are being researched.
Carrier Rate/ Incidence
1 in 70 people are carriers of PMM2-congenital disorder of glycosylation (PMM2-CDG).
Common symptoms
Affects multiple body systems leading to developmental delays, poor muscle tone, and organ dysfunction.
Emerging Treatments
Treatment mainly focuses on managing the symptoms and improving the quality of life for those affected. Ongoing research includes gene therapy, enzyme replacement therapy, new medications, and clinical trials.
What is UNITY Fetal Risk™ Screen for PMM2-congenital disorder of glycosylation (PMM2-CDG)?
UNITY Fetal Risk Screen is a carrier screening and fetal risk assessment for your pregnancy all with one convenient blood draw. The first step is identifying if you are a carrier for PMM2-CDG, or certain other recessive conditions. If you are not a carrier for PMM2-CDG, your baby’s risk of having PMM2-CDG 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 PMM2-CDG is high or low.
PMM2-congenital disorder of glycosylation (PMM2-CDG) carrier screening is recommended for anyone planning to start a family or those who are already pregnant that have a family history of PMM2-CDG or intellectual disability suggestive of PMM2-CDG
What is PMM2-congenital disorder of glycosylation (PMM2-CDG)?
PMM2-Congenital Disorder of Glycosylation (PMM2-CDG) is an inherited condition that affects many parts of the body. Individuals with PMM2-CDG can experience a range of symptoms, including low muscle tone or muscle weakness, poor growth, and difficulty with coordination and balance. They may also have developmental delays, learning challenges, or moderate to severe intellectual disability. Other possible symptoms include problems with the liver, kidneys, or heart, as well as abnormal facial features, eye and vision issues, and seizures. The severity of these symptoms can vary greatly among individuals.
There is currently no cure for PMM2-Congenital Disorder of Glycosylation (PMM2-CDG). Treatment mainly focuses on managing the symptoms and improving the quality of life for those affected.
How is PMM2-congenital disorder of glycosylation (PMM2-CDG) inherited?
PMM2-CDG is an autosomal recessive condition, meaning a person must inherit a specific genetic change in the PMM2 gene from both parents to be affected. If both parents are carriers, they can pass on either a working or non-working copy of the PMM2 gene. If a child inherits non-working copies from both parents, they will have PMM2-CDG.
Who should consider PMM2-congenital disorder of glycosylation (PMM2-CDG) screening?
Carrier screening for PMM2-congenital disorder of glycosylation (PMM2-CDG) is recommended for pregnant individuals or those considering pregnancy who have a family history of PMM2-CDG or intellectual disability suggestive of PMM2-CDG"
With UNITY Fetal Risk Screen, one test can tell you if you are a carrier for PMM2-CDG and if your baby has a high risk or low risk of having PMM2-CDG through our unique fetal risk assessment. Depending on your results, your provider may discuss additional confirmatory testing that can be done either before or after delivery.
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.
What do PMM2-congenital disorder of glycosylation (PMM2-CDG) screening results mean?
Your UNITY Fetal Risk Screen results will tell you if you are a carrier for PMM2-CDG, 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 PMM2-CDG.
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.
Frequently Asked Questions
Is there a cure for PMM2-CDG?
Currently, there is no cure for PMM2-CDG. However, clinical trials are ongoing and include investigation of enzyme replacement therapies that could bypass the deficient enzyme in PMM2-CDG and alleviate symptoms. Gene therapies and new medications are also under investigation.
How is PMM2-CDG treated?
Treatment mainly focuses on managing the symptoms and improving the quality of life for those affected. Individuals with PMM2-CDG benefit from early intervention programs and are managed by a multidisciplinary care team, including neurologists, gastroenterologists, nutritionists, and other healthcare providers.
Is PMM2-CDG more common in certain populations?
PMM2-CDG is more common in the Danish, Dutch and Ashkenazi Jewish populations, but is not isolated to these groups.
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