Multiple choice

Which of the following is a major limitation of DNA-based carrier screening in cystic fibrosis?

  1. Laboratory errors in mutation analysis

  2. Nonpenetrance of many CFTR mutations

  3. Germline mosaicism

  4. Incomplete ascertainment of mutations
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

The current approach to carrier detection involves testing of a limited panel of mutations, which results in failure to detect some of the rarer CFTR mutations. Negative carrier testing does not mean that an individual is not a carrier, though negative testing reduce an individual's risk of being a carrier.

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