Counsyl Foresight™ Carrier Screen Spotlight:

21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH)


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Learn more about the impact of 21-OH CAH on affected individuals and how screening can help improve outcomes.


What is CAH?¹

Congenital adrenal hyperplasia (CAH) is a family of conditions affecting hormone levels. The most common form of CAH, 21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH), is caused by mutations in the CYP21A2 gene. Symptoms of 21-OH CAH include:

  • Failure to thrive
  • High blood pressure
  • Life-threatening sodium deficiency
  • Hormone imbalances
  • Fertility issues

Advance knowledge of 21-OH CAH can help improve health outcomes

Did you know?

  • 21-OH CAH is similar in incidence to spinal muscular atrophy, for which universal screening guidelines exist. 

  • Due to technical challenges, 21-OH CAH is absent from most expanded carrier screening panels.

Advance knowledge of hereditary conditions like 21-OH CAH can inform life-saving intervention after birth and prevent the diagnostic odyssey, saving years of stress, anxiety and cost. 


“Often there is no family history and families are not aware of 21-OH CAH as a possibility. Knowing a child is at-risk for 21-OH CAH before newborn screening can potentially save a child's life.”

- Allison Goetsch, MS, CGC
Pediatric genetic counselor at Ann & Robert H Lurie
Children's Hospital of Chicago


Expanded carrier screening provides actionable insights

Counsyl pioneered expanded carrier screening (ECS) for conditions such as 21-OH CAH to provide early insights that can be used to make a difference in health outcomes. Offering ECS routinely, regardless of family history or self-reported ethnicity, leads to the detection of more at-risk pregnancies.


86% of affected pregnancies detected by the Foresight Carrier Screen would be missed if screening for cystic fibrosis* and spinal muscular atrophy alone.²

*23 mutations through targeted genotyping


Need help explaining expanded carrier screening to patients?

Enter your email to download a sample case study outlining the journey for a couple found to be at-risk for 21-OH CAH.


"At age 28, I finally learned the three little words that caused my suffering: congenital adrenal hyperplasia. I've always said that if you can name it, you can do something about it."

-Allison Landa, Patient living with 21-OH CAH
Advocate for early awareness of 21-OH CAH


Maximizing detection of couples at-risk for serious conditions with the Foresight Carrier Screen

The Foresight Carrier Screen is methodically designed to maximize the detection of couples at-risk for a pregnancy affected by serious, prevalent inherited conditions such as 21-OH CAH.³

In total, ~1 in 300 pregnancies are affected by a condition on the Foresight Carrier Screen.²


Innovation where it matters

21-OH CAH is absent from most carrier screening panels because it is technically challenging to test for and requires more advanced analysis to avoid false positives and false negatives. Counsyl's custom assay for 21-OH CAH maximizes detection rates that give you the utmost confidence in every result.

The Foresight Carrier Screen identifies couples at-risk to pass down serious inherited conditions.


1. Nimkarn S, et al. (Updated 2016 Feb 4). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® (Internet). Seattle (WA): University of Washington, Seattle; 1993- 2018. Available from:
2. Hogan, et al. Clinical Chemistry (in press)
3. Beauchamp KA, Muzzey D, Wong KK, et al. “Systematic design and comparison of expanded carrier screening panels” Genetics in Medicine 2017; doi:10.1038/gim.2017.69