Cystic fibrosis screening soars. (Still Below Target Levels).

Screening of pregnant women and their partners for cystic fibrosis mutations has skyrocketed since September 2001, when the American College of Obstetricians and Gynecologists and the American College of Medical Genetics recommended that physicians make screening available to all couples seeking preconception or prenatal care.

But despite the soaring numbers, by early this year cystic fibrosis (CF) screening was still way below target goals. Best estimates of screening volume in the United States in early 2003 placed the number at an annualized rate of perhaps 300,000500,000 tests, a level far above the rate through the end of 2001, but a figure that's dwarfed by the approximately 4 million live births a year in the United States.

Because a large percentage of pregnant women and their partners are supposed to be offered screening, and most prospective parents don't know their CF carrier status, a few million tests would need to be done each year if screening were offered by most obstetricians.

"ACOG is focused on getting the word out to obstetricians," said Dr. Deborah A. Driscoll, an ob.gyn. at the University of Pennsylvania, Philadelphia, and chair of ACOG's committee on genetics. "We're a little concerned about the potential liability if physicians don't offer screening, so we feel that it's really important to keep educating our fellows," she said in an interview.

"I talk to a lot of obstetricians at grand rounds, and I often ask whether any of them are offering CF screening to their patients, and it's not unusual for no one in the room to raise their hand," said Dr. Wayne W. Grody, a member of the CF screening task force that the American College of Medical Genetics (ACMG) runs with ACOG.

"It's not that obstetricians are not aware of this; they've seen the mailings. But they say that they don't have the time to talk with patients about it, that their patients come from ethnic groups where the prevalence of mutations is low, and that they are not sure who will pay for the test," Dr. Grody told this newspaper.

Laboratories generally charge about $150-$200 for the current, standard CF carrier test, and insurance coverage is currently spotty, even though "insurers should pay for it because screening is now the standard of care," according to Dr. Grody, who is professor of medical genetics at the University of California, Los Angeles.