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PubMed1997

Prenatal testing for limb reduction defects. How patients' views affect their choice of CVS.

OBJECTIVE: To determine the effect of reports and media coverage on chorionic villus sampling (CVS) and limb reduction defects (LRD) on patients' utilization of CVS for prenatal testing for advanced maternal age and to quantitate the relation of preferences for CVS and amniocentesis (AMN) outcomes to test utilization. STUDY DESIGN: We compared CVS and AMN utilization rates in two groups of women seen at one academic medical center before and after publicity concerning CVS and LRD. We measured preferences, in rating-scale units, for potential outcomes of prenatal testing in the after-publicity group. Relationships between preferences and CVS utilization were examined using multivariate methods. RESULTS: The proportion of women utilizing CVS for prenatal testing declined significantly for the after-publicity group (23%) as compared with the prepublicity group (47.4%, P = .0001). Belief that the birth of a child with LRD after CVS was worse than a similar birth after AMN significantly reduced the odds of choosing CVS. A decrement in preference for a child with LRD after CVS of 5 rating-scale units reduced the likelihood of CVS by 15% (confidence interval [CI], 1-28%); a decrement of 10 units reduced the likelihood of CVS by 28% (CI, 1-48%). This effect persisted after adjustment for demographic and obstetric covariates, prior prenatal testing, locus of decision making (patient versus physician or shared) and other maternal preferences for outcomes of prenatal testing. CONCLUSION: Lower patient preference for a child with LRD after CVS was an independent predictor of choosing AMN over CVS and was probably responsible for the significant decrease in CVS utilization at our hospital.

Amniocentesis↗
PubMed2003

Anxiety scores before and after prenatal testing for congenital anomalies.

OBJECTIVE: Prenatal diagnosis has psychological effects on the pregnant woman. We studied the state of anxiety levels in 332 pregnant women presenting between the 12th and 20th week of gestation before and after prenatal examination with negative and positive prenatal findings. RESULTS: Prenatal examination produced a positive finding in 37 cases (11.1%). Both before and after prenatal examination pregnant women with a positive finding showed significantly higher anxiety-scales when compared to women with a negative result. After the examination state-anxiety levels were significantly reduced with a negative prenatal scan, whereas anxiety levels remained constant with a positive result. CONCLUSIONS: Prenatal testing for fetal anomalies presents an anxiety-inducing situation for the parents-to-be. If the results are negative, anxiety is reduced. Pregnant women who are confronted with a positive malformation scan show unchanged levels of anxiety after the examination.

Adult↗
PubMed1995

Towards informed decisions about prenatal testing: a review.

There are now several well-documented psychological problems associated with prenatal testing programmes. These include poor understanding of tests undergone or declined, anxiety following false positive results, and false reassurance in those receiving negative test results. There is, as yet, little evidence concerning how to provide services to circumvent these. The focus of this review is upon just one of these problems: how best to inform women about prenatal testing and their reproductive options following the diagnosis of a fetal abnormality. Possible methods of improving informed decision-making either about whether to undergo testing or whether to terminate an affected pregnancy are described drawing upon research from antenatal and other health care areas. Future challenges for clinical practice and research in this area concern the range of conditions and predispositions for which prenatal testing with the option of termination should be offered.

Choice Behavior↗
PubMed2006

Evaluation of a decision aid for prenatal testing of fetal abnormalities: a cluster randomised trial [ISRCTN22532458].

BACKGROUND: By providing information on the relative merits and potential harms of the options available and a framework to clarify preferences, decision aids can improve knowledge and realistic expectations and decrease decisional conflict in individuals facing decisions between alternative forms of action. Decision-making about prenatal testing for fetal abnormalities is often confusing and difficult for women and the effectiveness of decision aids in this field has not been established. This study aims to test whether a decision aid for prenatal testing of fetal abnormalities, when compared to a pamphlet, improves women's informed decision-making and decreases decisional conflict. METHODS/DESIGN: A cluster designed randomised controlled trial is being conducted in Victoria, Australia. Fifty General Practitioners (GPs) have been randomised to one of two arms: providing women with either a decision aid or a pamphlet. The two primary outcomes will be measured by comparing the difference in percentages of women identified as making an informed choice and the difference in mean decisional conflict scores between the two groups. Data will be collected from women using questionnaires at 14 weeks and 24 weeks gestation. The sample size of 159 women in both arms of the trial has been calculated to detect a difference of 18% (50 to 68%) in informed choice between the two groups. The required numbers have been adjusted to accommodate the cluster design, miscarriage and participant lost--to--follow up. Baseline characteristics of women will be summarised for both arms of the trial. Similarly, characteristics of GPs will be compared between arms. Differences in the primary outcomes will be analysed using 'intention-to-treat' principles. Appropriate regression techniques will adjust for the effects of clustering and include covariates to adjust for the stratifying variable and major potential confounding factors. DISCUSSION: The findings from this trial will make a significant contribution to improving women's experience of prenatal testing and will have application to a variety of maternity care settings. The evaluation of a tailored decision aid will also have implications for pregnancy care providers by identifying whether or not such a resource will support their role in providing prenatal testing information.

Cluster Analysis↗
PubMed2006

Beyond race or ethnicity and socioeconomic status: predictors of prenatal testing for Down syndrome.

OBJECTIVE: To identify predictors of prenatal genetic testing decisions and explore whether racial or ethnic and socioeconomic differences are explained by knowledge, attitudes, and preferences. METHODS: This was a prospective cohort study of 827 English-, Spanish-, or Chinese-speaking pregnant women presenting for care by 20 weeks of gestation at 1 of 23 San Francisco Bay-area obstetrics clinics and practices. Our primary outcome measure for women aged less than 35 years was any prenatal genetic testing use compared with none, and for women aged 35 years or older, prenatal testing strategy (no testing, screening test first, straight to invasive diagnostic testing). Baseline questionnaires were completed before any prenatal test use; test use was assessed after 30 gestational weeks. RESULTS: Among women aged less than 35 years, no racial or ethnic differences in test use emerged. Multivariable analyses yielded three testing predictors: prenatal care site (P = .024), inclination to terminate pregnancy of a Down-syndrome-affected fetus (odds ratio 2.94, P = .002) and belief that modern medicine interferes too much in pregnancy (odds ratio .85, P = .036). Among women aged 35 years or older, observed racial or ethnic and socioeconomic differences in testing strategy were mediated by faith and fatalism, value of testing information, and perceived miscarriage risk. Multivariable predictors of testing strategy included these 3 mediators (P = .035, P < .001, P = .037, respectively) and health care system distrust (P = .045). A total of 29.5% of screen-positive women declined amniocentesis; 6.6% of women screening negative underwent amniocentesis. CONCLUSION: Racial or ethnic and socioeconomic differences in prenatal testing strategy are mediated by risk perception and attitudes. Screening is not the best choice for many women. Optimal prenatal testing counseling requires clarification of risks and consideration of key attitudes and preferences regarding the possible sequence of events after testing decisions.

Adult↗
PubMed1999

Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987-1997).

We have performed 31 exclusion tests (43 per cent) and 41 direct tests (57 per cent) in 43 couples at risk, in the period 1987 to 1997 in Leiden, The Netherlands. This resulted in termination of 28 pregnancies (39 per cent), with an increased risk. In 28 couples (65 per cent), the woman was at risk. Prenatal testing in consecutive pregnancies (mean number: 3) was performed in 15 couples (35 per cent), with a mean time interval of 15 months. Parents should make an independent choice for (every) pregnancy, although most (86 per cent) did not change their initial choice. It is important that the position of children in the same family, of whom some know their status as a result of prenatal testing, whereas others remain at risk, is taken into consideration in counselling. The relative number of exclusion tests when compared with direct tests has diminished since the mutation was identified. The prenatal exclusion-definitive test (Fig. 1) was rarely used (2/72, 3 per cent). Nowadays, direct mutation testing of the fetus only is simpler and faster and the risk of disclosure of the genetic status of the at-risk parent is only 25 per cent. This test should therefore be offered as another option and included in the international guidelines. The uptake for prenatal testing is low: for 2 per cent of the at-risk persons, 11 per cent of the tested carriers and a small group of at-risk persons wishing not to be tested themselves, prenatal testing seems an acceptable choice regarding reproduction.

Adult↗
PubMed1996

Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.

Prenatal testing of 12 pregnancies at risk for argininosuccinic aciduria due to argininosuccinate lyase (ASAL) deficiency and three pregnancies at risk for citrullinaemia due to argininosuccinate synthatase (ASAS) deficiency was performed by metabolite detection in amniotic fluid and measurement of enzyme activity in uncultured and cultured chorionic tissue and in cultured amniocytes. From our data and those of previous studies, amniotic fluid argininosuccinate measurement alone is clearly a reliable and rapid diagnostic test for both severe and mild ASAL deficiency if maternal ASAL deficiency can be excluded. For prenatal diagnosis of ASAS deficiency, however, both measurement of the amniotic fluid citrulline level and enzyme assay should be employed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1994

Prenatal testing for Down syndrome in the Jewish and non-Jewish populations in Israel.

The present work evaluated the efficacy of a prenatal diagnosis program in which amniocentesis and chorionic villus sampling were offered free of charge to all pregnant women in Israel aged > or = 37 years. The number of Down syndrome (DS) live births that occurred during the period of the program (1978-92) was correlated to the prevalence of old maternal age (> 35 years) and the utilization of prenatal test in the Jewish and non-Jewish populations in 1990 and 1992. It was noted that in the Jewish population, there was a slight increase in the DS live birth rate, from 1.05 in 1978, to 1.37 DS cases/1,000 live births in 1987, which corresponded to an increase in the prevalence of older pregnant women, from 8.0% in 1978 to 14.8% in 1987. Thereafter, however, there was a continuous decline, to 0.71 DS cases/1,000 live births in 1992, as a result of increased acceptance of prenatal testing by women > or = 37 years (67%) and, recently, also by younger women (from 5.6% in 1990 to 14% in 1992). In the non-Jewish population, there has been a very low acceptance rate of prenatal testing (23.3-16.1% in women > or = 37 years and 0.36-0.63% in women < 37 years). As a result, a very low prenatal detection rate (8-16% of all DS cases) and a high prevalence of DS live births (1.4 cases/1,000 live births) were observed. We suggest that a unique genetic counseling approach is required in the non-Jewish population to improve prenatal DS prevention in Israel.

Adult↗
PubMed1995

Use of decision analysis to evaluate patients' choices of diagnostic prenatal test.

Women with a family history of a chromosomal or genetic abnormality must weigh several factors in choosing between amniocentesis and chorionic villus sampling. We compared the prenatal test choices of three such women with those of decision analytic models that incorporated their preferences. Patient preferences were assessed using visual linear rating scales. Threshold analysis was used to determine preference ranges, and stochastic sensitivity analysis to provide confidence levels, for each choice of test. The test choices of patients and decision analytic models agreed in one case, and disagreed in two cases. In one of the latter two cases, stochastic and threshold analyses showed the disagreement to be slight; for small shifts in preference differences for first- vs. second-trimester diagnosis, or first- vs. second-trimester therapeutic abortion, patient and decision model would have agreed. In the other, stochastic analysis showed their differences to be large; there were no thresholds for early diagnosis, or for early therapeutic abortion, that would have led to agreement between patient and model. In the two cases in which patient and decision model agreed or slightly disagreed, the patients had made their own choice of prenatal test. In the case in which patient and decision model strongly disagreed, the patient's physician had shared in the choice of test. Decision analysis can be useful in analyzing prenatal test choices based on individual preferences for pregnancy outcomes. When choices of patients and decision models do not agree, examination of the locus of decision making (patient vs. physician) may help resolve apparent differences.

Abortion, Induced↗
PubMed2004

Do women know that prenatal testing detects fetuses with Down syndrome?

This questionnaire-based study in Victoria, Australia, examined the responses of pregnant women, aged 37 years and over, to a question about what they expected prenatal testing (screening and/or diagnosis) for birth defects to tell them about their pregnancy. Content analysis showed that, of the 432 tested women, 61.3% mentioned Down syndrome, chromosomal abnormalities or trisomies. Women undergoing both screening and diagnosis were more likely than those having one or other test to mention Down syndrome (adjusted OR = 1.6, P = 0.06), having adjusted for age, marital status, education, residence and parity. Similarly, those from an English-speaking background were more likely to mention Down syndrome, etc. compared to women from a non-English-speaking background (adjusted OR = 3.5, P < 0.001). Down syndrome, a fundamental piece of information about prenatal tests, was not mentioned in nearly 40% of women's responses. This suggests that pregnant women need clearer information about prenatal testing, including the conditions that might be detected.

Analysis of Variance↗
PubMed2003

Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing.

BACKGROUND: Uniparental disomy (UPD) is defined by the inheritance of both homologous chromosomes from only one parent, resulting in an imbalance of the expression of imprinted genes. With the recent identification of several diseases associated with UPD, the diagnostic significance of this molecular finding is a focus of interest. Acrocentric chromosomes involved in Robertsonian translocations (RTs) are particularly prone to being affected by mis-segregation events, possibly resulting in UPD. While UPDs of chromosomes 13, 21, and 22 have no clinical consequences, and therefore have no diagnostic impact despite of homozygosity of recessive alleles, prenatal testing for UPDs 14 or 15 is becoming increasingly asked for. METHODS: Thirty-one fetuses with nonhomologous balanced RTs involving chromosome 14 were tested for UPD14 by microsatellite typing. RESULTS: No cases of maternal UPD14 were detected among the 31 fetuses analyzed. CONCLUSIONS: Based on our own data from molecular testing in 31 prenatal RT cases and findings in the published literature, we delineated a risk of 0.3% for a UPD with clinical consequences for prenatally detected carriers of a nonhomologous RT. Prenatal UPD testing is not associated with any additional risk to the pregnancy once invasive prenatal testing has been carried out. However, the possibly conflicting consequences in the case of a prenatal UPD identification should be discussed in advance. Furthermore, risk figures in specific clinical cohorts, such as couples prior to intracytoplasmic sperm injection, as well as questions of prenatal diagnostic management, will be discussed.

Chromosomes, Human, Pair 14↗
PubMed1999

Support for the availability of prenatal testing for neurological and psychiatric conditions in the psychiatric community.

Faculty and residents of the University of Michigan Department of Psychiatry, members of the Alliance for the Mentally Ill (AMI), and university students were surveyed to elicit attitudes toward the availability of prenatal testing and genetic therapy or enhancement for early- and late-onset psychiatric diseases compared to neurological disorders and human traits. They were asked to complete a written questionnaire designed to assess their opinions as to whether prenatal testing and genetic therapy or enhancement should be applied to 16 selected "disease" phenotypes or human traits: eight early- and late-onset psychiatric conditions, four neurological disorders, and four human traits. Twenty-two percent returned the written survey. The majority of all respondents supported the availability of prenatal testing for well-defined, serious psychiatric or neurological phenotypes and found testing for human traits less desirable. The percentages of respondents supporting availability of testing increased if in utero curative gene therapy was available. Response to the survey differed on the basis of gender and age, as well as personal versus professional familiarity with the condition. The results of this pilot study suggest that a majority of the population, including psychiatrists, will support the public availability of prenatal diagnosis for serious psychiatric or neurological phenotypes, even if no in utero curative therapy is available. Support for testing for human traits was not strongly endorsed.

Adult↗
PubMed2000

Reactions to prenatal testing: reflection of religiosity and attitudes toward abortion and people with disabilities.

To better understand factors associated with prenatal testing decisions, we asked individuals what they would do if through prenatal testing they discovered that they (or their partner) were carrying an affected fetus. Respondents were more uncertain about whether to continue the pregnancy when the fetus was diagnosed as having Down syndrome than when the fetus had spina bifida or hemophilia and less certain about continuing a fetus with spina bifida than one with hemophilia. There was modest support for the hypothesis that negative attitudes toward people with disabilities would be associated with an increased likelihood of choosing abortion. Religious affiliation was associated only with the decision concerning the fetus with hemophilia; church attendance was associated with the decisions concerning fetuses with all three diagnoses.

Abortion, Eugenic↗
PubMed1999

Prenatal tests: how are women deciding?

Women offered prenatal tests should be given sufficient information to enable them to make an informed decision. We compared the decision-making of 261 women who underwent serum screening for Down syndrome with 63 who did not. A questionnaire completed at 16 weeks' gestation assessed systematic decision-making (the weighing up of pros and cons on the basis of information presented), knowledge, anxiety and demographic information. Those undergoing screening were older but, with age partialled out, they had more knowledge about the test and made decisions less systematically than those not screened.

Adult↗
PubMedDate not supplied

Communicating risk in prenatal genetic testing.

Prenatal testing for Down syndrome and neural tube defects has become routine, and testing for other genetic conditions is becoming commonplace. Counseling about these tests involves a discussion of risk information, so pregnant women and their partners can use the information effectively when they make choices about testing. Discussing risk can be challenging, as many individuals, particularly those of lower literacy, have a poor understanding of the numerical concept of risk. Furthermore, whether risk is comprehended accurately or not, it is interpreted by patients in light of their existing knowledge and past experiences. Strategies available to optimize understanding of risk include communication of risk figures as frequencies rather than as probabilities or percentages and explicit discussion of a woman's preconceptions about her risk and about the condition being tested for.

Chromosome Disorders↗
PubMed2005

Prenatal testing guidelines: time for a new approach.

Numerous advances over the past 15 years have led to a much wider array of prenatal testing options for pregnant women who are interested in obtaining information regarding the chromosomal status of their fetus. However, despite recent data calling into question the assumptions underlying current testing guidelines, including those inherent in the risk-based threshold for offering invasive testing, chorionic villus sampling and amniocentesis are still typically offered only to women whose likelihood of carrying a fetus affected by a chromosomal disorder such as Down syndrome is at least as high as that of the average 35-year-old. In this paper, we summarize the evidence suggesting that this aspect of prenatal testing guidelines should be revisited, and that women should be allowed to make informed decisions regarding the use of invasive testing that are reflective of their own values and preferences.

Congenital Abnormalities↗
PubMed2003

Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII).

Prenatal diagnosis for the lysosomal storage disorders is typically achieved by enzymatic analysis of the relevant lysosomal enzyme in cultured amniocytes or chorionic villi. While prenatal diagnosis of some genetic diseases can be done by analysis of pertinent metabolites in amniotic fluid, there are few data regarding prenatal diagnosis of lysosomal disorders by enzyme analysis of amniotic fluid. Prenatal diagnosis by enzyme analysis of amniotic fluid has the potential advantage of providing a more rapid prenatal test result. In this study we describe an assay for the prenatal diagnosis of the mucopolysaccharidosis beta-glucuronidase deficiency (MPS VII; MIM #253220) using amniotic fluid and we confirm its reliability in detecting an affected fetus in an at-risk pregnancy by enzyme analysis of cultured amniocytes and fetal fibroblasts. Because MPS VII is rare and few instances of prenatal diagnosis for this and nearly all other lysosomal disorders have been accomplished by enzyme analysis of amniotic fluid, confirmation of results obtained from enzyme analysis of amniotic fluid should be carried out by enzyme or mutation analysis using cultured amniocytes or chorionic villus specimens.

Amnion↗
PubMed1994

Preferences of pregnant women for amniocentesis or chorionic villus sampling for prenatal testing: comparison of patients' choices and those of a decision-analytic model.

Decision analytic models have suggested that the choice of amniocentesis or chorionic villus sampling for prenatal genetic testing is a utility-driven decision. We compared preferences for prenatal testing among 156 pregnant women who had chosen either amniocentesis (n = 82) or chorionic villus sampling (n = 74) for the indication of maternal age. We also compared their choices with those of a decision-analytic model based on their preferences, and age-specific rates of spontaneous abortion and chromosomal abnormalities. Preferences were assessed using written scenarios describing potential outcomes of prenatal testing, and were recorded on linear rating scales. The differences in preference ratings for first- vs second-trimester prenatal diagnosis of a normal child (4.2 vs -1.6, p = 0.0004), and for first- vs second-trimester abortion of an abnormal fetus (4.4 vs -1.6, p = 0.01), were significantly greater among women choosing chorionic villus sampling than among women choosing amniocentesis. There were no significant differences between chorionic villus sampling and amniocentesis patients in their preference ratings for test-related miscarriage, disconfirmed results at pregnancy termination, or maternal morbidity from therapeutic abortion. After adjusting for demographic and obstetric factors, the difference in preferences for early vs late prenatal diagnosis was an independent predictor of the choice of chorionic villus sampling in a multivariate model. Among women whose decision analyses selected amniocentesis, 56.8% had chosen amniocentesis, and among women whose analyses selected chorionic villus sampling, 63.2% had chosen chorionic villus sampling (p = 0.05). We conclude that the preferences of pregnant women for the outcomes of prenatal testing were associated with their choice of amniocentesis or chorionic villus sampling. In addition, the choice of prenatal test made by the majority of women was concordant with that of a decision-analytic model that incorporated their preferences. Nevertheless, because many women made choices that were discordant with their decision-analytic results, further research into the bases for their choices is warranted.

Abortion, Induced↗