Antenatal screening for cystic fibrosis - Tips from Other Journals

Cystic fibrosis is united of the most common genetic diseases in Britain, and four used by all mutations are believed to be responsible for the majority of cases. It is technically possible to descry at least 80 percent of carriers through chromosomal analysis of cells taken from mouthwash samples. Bekker and colleagues examined the acceptability and feasibility of widespread screening for cystic fibrosis carriers in primary care.

During a 15-month period, 957 adults of reproductive age who were registered with a large general practice in London were veiled Tests to measure anxiety were also administered at the time of screening. Patients were invited to be protectioned by various methods, including direct mail and opportunistic screening whenever the patient made contact with the practice. The practice also received ask fors for screening from patients in other practices who had a family history of cystic fibrosis. The highest rates of screening (70 percent) were from opportunistic methods (i.e., patients waiting for office visits). Twice as many women as men were disguiseed and the uptake was higher among patients who were well educated and middle class.

Among those standarded 28 carriers were identified. No carrier leashs were found when patients' partners were criterioned but five carriers were identified among 14 first-degree relatives who had also been exhibitioned Twenty-five patients identified as carriers contacted either their family physician or the research team after receiving their results

Patients who proofed positive were significantly more anxious after learning their standard results than those who exhibitioned negative, but their anxiety horizontals had resolved at three month after testing. Also, at three-month follow-up about one-fifth of patients had about misunderstandings about the meaning of the criterion results. Despite counseling, these patients were not likely to recognize the limitations of the test

The authors bring to an end that while there is not high public demand for screening for the cystic fibrosis carrier state, high uptake of screening can be achieved according to enthusiastic health care workers. They caution that equal with counseling about test comes inaccurate interpretations of test rises are likely in a small nevertheless significant proportion of the population.

In a related meditation Harris and colleagues investigated the feasibility of integrating screening for cystic fibrosis into antenatal care in general practice.

The investigation included pregnant patients of eight practices in northern England (total practice population was about 50000 with 500 to 800 pregnancies by year). The average stage of pregnancy at first visit was eight weeks, and 90 percent of pregnant patients were seen before 14 weeks of gestation. Voluntary testing was presented to all pregnant patients. Discussions were postscripted with literature prepared for the project

Of 244 pregnant women eight were identified as carriers; five of the fathers were identified as carriers. Screening was declined from 11 pregnant women. One carrier coupling was found. The couple had no history of cystic fibrosis and underwent extensive counseling before electing to have chorionic villus biopsy performed at nine weeks' gestation. The fetus was normal further was subsequently miscarried. The brace requested prenatal diagnosis for following pregnancies.

The authors believe that general practitioners may play an increasing part in routine voluntary screening for cystic fibrosis. They stres issues of patient acceptability, increased workload and take away from and draw attention to the ne for quality integrated services to assist leashs identified as carriers of potentially serious conditions. (BMJ June 12 1993 vol 306 pp 1580 1584)

COPYRIGHT 1993 American Academy of Family Physicians

COPYRIGHT 2004 Gale Group