Medium-Chain acyl-CoA Dehydrogenase Deficiency (MCAD)

What is UNITY Fetal Risk™ Screen for Medium Chain Acyl-CoA Dehydrogenase Deficiency?

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 Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD). If you are not a carrier for MCAD, your baby’s risk of having MCAD 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 MCAD is high or low.

What is Medium Chain Acyl-CoA Dehydrogenase Deficiency?

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) is an inherited condition that affects the body’s ability to break down certain fats to produce energy. People with MCAD can experience low blood sugar, vomiting, tiredness, and muscle weakness, especially during long periods without food. If the condition is not treated, it can be life threatening. Untreated individuals can experience seizures, brain damage, and coma. 

Symptoms of MCAD usually appear in infancy or early childhood. With early diagnosis and proper management, individuals with MCAD can live a healthy life with a normal life expectancy. Treatment involves avoiding long periods without food, eating a high-carbohydrate, low-fat diet, and supplementing with cornstarch before bedtime to maintain blood sugar levels. 

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How is Medium Chain Acyl-CoA Dehydrogenase Deficiency inherited?

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) is an autosomal recessive condition. This means that a person must inherit two non-functional ACADM genes, one from each of their parents, to be affected with MCAD. 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 MCAD, there is 25% chance with each pregnancy that their child will inherit two non-functional genes and develop MCAD, 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 screening for Medium Chain Acyl-CoA Dehydrogenase Deficiency? 

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) carrier screening is recommended for anyone planning to start a family or those who are already pregnant that have a family history of MCAD. 

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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 Medium Chain Acyl-CoA Dehydrogenase Deficiency screening results mean?

Your UNITY Fetal Risk Screen results will tell you if you are a carrier for Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD). Then, if you are currently pregnant and a carrier, 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 MCAD.  

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

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Frequently Asked Questions

Is there a cure for MCAD?

There is no cure for MCAD, but it can be effectively managed with the right precautions. With early diagnosis and lifelong dietary management, individuals with MCAD can live healthy lives with a normal life expectancy. 

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What is the treatment for MCAD?
Children with MCAD need to eat regularly to prevent low blood sugar. The exact timing and frequency of meals should be discussed with a metabolic specialist.Treatment focuses on preventing low blood sugar by:

• Avoiding long periods without food
• Eating a high-carbohydrate, low-fat diet
• Taking cornstarch before bed to maintain stable blood sugar overnight
• Seeking medical attention during illness or fasting to prevent complications

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Can MCAD be life-threatening?

Yes, if not properly managed, MCAD can lead to serious complications, including brain damage or death. However, with early diagnosis and appropriate care, individuals can live healthy lives.

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Treatment & Resources

• National Organization of Rare Diseases
• Fatty Oxidation Disorders
• Medline Plus