Medical News and Perspectives
June 11, 2003

Cystic Fibrosis Gene Testing a Challenge

JAMA. 2003;289(22):2923-2924. doi:10.1001/jama.289.22.2923

Introductory genetics courses often present recessive inheritance as a simple "truth": if both parents carry one copy of a theoretical recessive gene for blue eyes, each child has a 25% chance of being born with azure orbs.

If only it were that simple for cystic fibrosis.

In the 2 years since the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommended widespread genetic testing to determine if prospective parents carried mutations associated with the disease, confusion over laboratory results has led some mothers to undergo unnecessary amniocentesis. (Additional information about the ACOG and ACMG recommendations is available at There have also been "unconfirmed anecdotal reports" of mothers aborting fetuses based on bad information, said Michael Watson, PhD, at the annual meeting of the ACMG in March.

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