The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA.

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.

A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening for Down syndrome in the first trimester: a pilot study.

OBJECTIVE: To compare the experiences of women who received a screen-positive test result for Down syndrome after nuchal translucency screening or after biochemical screening in the first trimester of pregnancy in the Netherlands. METHOD: Semi-quantitative questionnaires were sent to 40 women with a screen-positive test result for Down syndrome in the first trimester of pregnancy: 20 had undergone nuchal translucency screening (NT group) and 20 had undergone serum screening (PAPP-A and free beta-hCG) (SS group). In all the cases, chorionic villus sampling (CVS) had not revealed any chromosomal abnormalities. RESULTS: The major reason for undergoing the screening test in both groups of women was to be more reassured about the health of the baby. In the NT group, 5 out of the 20 women stated that they had suddenly been confronted with the NT measurement during the ultrasound examination without even being asked, or had been caught by surprise about the possibility. Together with two other women, they felt that at that stage they had been insufficiently informed about what the test meant. In the SS group, two women also held this opinion. In 10 out of the 20 women in the SS group, the positive-screening result had caused (a great deal of) anxiety. In the NT group, this proportion was as high as 18 out of the 20. Six of the women in the NT group mentioned that 'seeing the baby' had been an important factor in their decision to undergo CVS. Even after a favourable result of CVS, a proportion of the pregnant women were still feeling anxious about the health of their baby (5 women in the SS group and 12 in the NT group). Nevertheless, a large proportion of the women in both groups was pleased that they had undergone the screening test. Only a few of them stated that they would not choose the same screening test again in a future pregnancy. CONCLUSIONS: 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.

Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families.

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.