The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA Kooij, Loes; Tymstra, Tjeerd; van den Berg, Paul Take-down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim.Downloaded from the University of Groningen/UMCG research database (Pure): http://www.rug.nl/research/portal. For technical reasons the number of authors shown on this cover page is limited to 10 maximum. Objective To determine the opinions of women about the new developments in the field of noninvasive prenatal diagnosis (NIPD).Method Prospective study using questionnaires in two groups of women: women visiting the University Medical Centre Groningen and the Martini Hospital Groningen for the routine fetal anomaly ultrasound scan at 20 weeks' gestation and female medical master students.Results Both groups consider NIPD an important asset in the reliable diagnosis of fetal aneuploidy and gender-determined genetic disorders, with the exception of disorders manifesting themselves later in life. There is a negative response as to its application for family balancing. Eighty-two percent of the pregnant women and 79% of the medical students responded positively to the question whether they consider NIPD an important asset in prenatal care. The statement that it is an asset because it enables pregnant women to bear an 'optimal child' is strongly rejected by both groups.Conclusions NIPD paves the way for screening on a large scale. Our survey shows that women feel positive about these new possibilities, but find it hard to fully realize the consequences and new choices they will be confronted with.

Abstract

This qualitative study explores the experiences of cystic fibrosis (CF) carrier couples, prospectively identified in CF families, and the impact of the resulting genetic risk on reproductive behavior. Of the 12 couples identified until 1997, seven couples participated in semistructured interviews and two couples filled in a questionnaire, two to eight years after receipt of the test-results. After receiving the results, most couples reported that they were shocked, because they did not expect to both be carriers. More anxiety was expressed by those who were pregnant (n = 4) at the time of testing. There were reported difficulties in disclosing the results to family members, and the reactions of family members were not always supportive. After testing, some couples had problems with reproductive decision-making. All viable pregnancies (17 in 8 couples) were monitored by prenatal diagnosis; all affected pregnancies were terminated (6 in 4 couples). Couples who have live-born children after testing may subsequently have concerns during infancy about the correctness of the results of prenatal diagnosis and how to inform their children. Most couples did not regret the testing and, in general, the counseling was experienced positively, although some dissatisfaction was reported with regard to the psychological support received during pregnancy. Couples supported the idea of carrier screening in the general population, although various concerns were expressed. The results indicate a preference for testing before pregnancy. These findings may be useful in investigating possible dilemmas caused by the introduction of population carrier screening. Observations reported here might also apply to other recessively inherited disorders.

Background -Research on the cost of care of patients with cystic fibrosis is scarce. The aim of this study was to estimate the costs using age-specific medical consumption from real patient data. Methods -The age-specific medical consumption ofpatients with cystic fibrosis in The Netherlands in 1991 was estimated from a survey of medical records and a patient questionnaire. A distinction was made between costs of hospital care, hospital and non-hospital medication, and home care. Costs per year were obtained by multiplying the yearly amount of care and the costs per unit. Results -On average the annual cost of a patient with cystic fibrosis in 1991 was £10 908 (hospital care 42%, medication 37%, home care 20%). The cost of care of cystic fibrosis in The Netherlands, with approximately 1000 patients, is estimated at £10-9 million per year, which is 0 07% of the total health care budget. The cost of care of a patient up to the age of 35 is estimated at £614 587. When year-to-year survival is taken into account and future costs are discounted to the year of birth with a yearly discount rate of 5%, the cost of care of a patient with cystic fibrosis is estimated at £164365 for 1991. This estimate will be used in a prospective evaluation of screening for cystic fibrosis carriers. Conclusions -The cost of care of patients with cystic fibrosis estimated by age-specific medical consumption of real patients is higher than that estimated by non-agespecific medical consumption and/or expert opinions.

An unfavourable screening result after NT screening appeared to have a greater impact than an unfavourable result after serum screening. This might partly be explained by the ultrasound examination visualising the increased risk during NT screening. An additional important role may have been played by the fact that an abnormal NT screening result implies an increased risk of other disorders besides Down syndrome, which the women should be informed about beforehand. Several factors place special demands on the counselling prior to NT screening.