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PubMedDate not supplied

Prenatal HIV testing in Ontario: knowledge, attitudes and practices of prenatal care providers in a province with low testing rates.

OBJECTIVE: To describe the knowledge, attitudes and practices of prenatal care providers in relation to prenatal HIV testing. METHODS: A stratified random sample of 784 family physicians, 200 obstetricians and 103 midwives providing prenatal care in 3 health planning regions in Ontario received a questionnaire. RESULTS: Response was 622/1087 (57%). Almost half of participants (43%) were not aware of Ontario's prenatal HIV testing policy. Eighty-five percent of participants reported that they offered or ordered HIV testing for all pregnant women. Sixty-six percent agreed that women should have a choice about whether to test or not, and midwives were more supportive of having an informed consent process than were physicians. CONCLUSION: Knowledge about the risks and benefits of prenatal HIV testing needs to be improved, and standards for informed consent should be re-evaluated to achieve the most ethical process with the least complexity.

AIDS Serodiagnosis↗
PubMed1985

Feasibility of prenatal hearing test.

Variability in foetal responses to sound stimulations is described and the effect of the different factors involved in this reactivity, in particular the physical characteristics of the stimulus and state of alertness of the foetus, is discussed. Results obtained with a high pass filtered pink noise at a 106, 109 and 113 dB SPL on 37-40 week foetuses are given to illustrate this dependency. For all tested levels, responsiveness was reduced after repetition of the stimulus. This was observed even at 113 dB when stimulation was preceded by a series of lower level stimuli to which foetuses were (or became) unresponsive. Motor responses (lower limb movements) were the first and the most affected by stimulus repetition, followed by cardiac response decrement--but with a lower proportion of non-responses, especially at 113 dB. Consequently, with this specific stimulus, cardiac reactivity seems a more reliable parameter to examine when more than one stimulus is needed to ascertain foetal hearing. It was also demonstrated that foetuses were much less reactive when stimulated during low heart rate variability sequences than during high heart rate variability. Testing of prenatal hearing seems feasible in utero and should be a promising method for detecting gross hearing impairment once the influence of each biophysical parameter has been carefully studied.

Female↗
PubMed2005

The impact of first-trimester screening on AMA patients' uptake of invasive testing.

OBJECTIVE: Prenatal testing for AMA includes invasive procedures such as CVS and amniocentesis, which have risks. We sought to determine the effects of first-trimester screening (FTS) on referrals for genetic counseling and patients' decisions to pursue invasive testing after FTS was offered in 2002. METHODS: We compared AMA patients presenting for prenatal care who underwent early genetic counseling (<13 weeks' gestation) from 2001 to those from 2003. Charts were reviewed for maternal age, gestational age, past obstetric history, prior CVS or amniocentesis, abnormal ultrasound findings and decision to proceed with invasive testing. The two groups were compared using Student t-test and chi-square tests. RESULTS: In 2001, 552 AMA women enrolled in prenatal care; 68 presented for early genetic counseling. In 2003, 728 AMA women enrolled in prenatal care; 172 presented for early genetic counseling. More counseled women chose genetic testing in 2003 than in 2001 (95% vs 79%, p<0.01). More patients elected an invasive procedure in 2001 compared to 2003 (71% vs 26%, p<0.01). CONCLUSION: Availability of FTS results in more AMA women having early prenatal genetic counseling and choosing some form of genetic testing. Such women are less likely to choose invasive tests than those without access to FTS.

Adult↗
PubMed1991

Amniocentesis or chorionic villus sampling for prenatal genetic testing: a decision analysis.

We used decision analysis to examine the strategies of amniocentesis, chorionic villus sampling, and no prenatal testing for a pregnant woman who would be 35 years of age at the expected date of delivery. Probabilities were obtained from the obstetric and genetic literature, and utilities from previously published standard reference gambles and from responses of obstetric residents and students recorded on a linear rating scale. The expected utility of amniocentesis exceeded that of chorionic villus sampling by 0.1 utility units, and of no prenatal testing by 0.12 utility units. The decision was insensitive to clinically plausible values for the probabilities of spontaneous abortion after amniocentesis and chorionic villus sampling, the probabilities of abnormal and indeterminate chorionic villus sampling results, the probability of an abnormal amniocentesis result after an indeterminate chorionic villus sampling, the sensitivities and specificities of amniocentesis and chorionic villus sampling, and the probabilities of significant maternal morbidity after first- and second-trimester therapeutic abortion. Chorionic villus sampling was preferred to amniocentesis when the utility of a first-trimester therapeutic abortion exceeded that of a second-trimester abortion by 23.2 utility units, or when the anxiety "cost" of awaiting second-trimester amniocentesis results exceeded 0.1 utility unit. We conclude that over a range of assumptions concerning the probabilities involved in the prenatal testing decision, amniocentesis was preferred to chorionic villus sampling. However, for a decision maker for whom a second-trimester therapeutic abortion would be significantly less acceptable than a first-trimester procedure, or for whom the anxiety of awaiting second-trimester chromosomal diagnosis might be an important consideration, chorionic villus sampling could become the procedure of choice.

Adult↗
PubMed1995

New estimates of Down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population.

Current measures of livebirth prevalence of Down syndrome are derived from data obtained up to 20 years ago, before the introduction of the prenatal diagnostic tests amniocentesis and chorionic villus sampling (CVS). For women aged 36-52 years, but who were not tested prenatally, we proposed to make a direct estimate of current livebirth prevalence of Down syndrome. We could also determine prevalence at the time of CVS and amniocentesis in women of the same age undergoing prenatal testing. Differences in these prevalences allow an estimation of the relative loss of Down syndrome during pregnancy. In Victoria, Australia, we identified 3041 women having CVS, 7504 having amniocentesis, and 13,139 having no test. Smoothed regression estimates of age-specific livebirth prevalence were found to be higher than in the early studies. The estimate of spontaneous loss was 17 per cent between the time of CVS and amniocentesis, and 18 per cent after the time of amniocentesis. The latter figure is lower than previous estimates and may be explained by a greater likelihood of a Down syndrome fetus surviving to be liveborn, given the modern approach to early obstetric intervention. These current risk estimates of livebirth may be useful updates for genetic counselling, but perhaps more importantly, may be used as precise maternal age-related risk figures, necessary in the design and implementation of prenatal screening programmes for Down syndrome.

Adult↗
PubMed1990

Rats exposed prenatally to alcohol exhibit impairment in spatial navigation test.

Prenatal exposure to ethanol causes learning disabilities and low I.Q. scores. The objective of the present studies was to investigate whether exposure of rats to ethanol in utero, would induce a deficit in spatial memory in adult life. Pregnant rats were fed with an ethanol diet from day 1 of pregnancy till parturition. Control rats were either pair-fed with an isocaloric sucrose diet or were fed with lab-chow ad libitum. On the first day of birth, offspring exposed to ethanol in utero were placed with a control mother fed with lab-chow, while offspring of the lab-chow fed dams were placed with ethanol-treated dams. At 40, 60 and 90 days postnatally, behavioral testing was performed using the Morris swim maze, a test of spatial memory. Results indicated that the offspring exposed to ethanol in utero presented deficits in spatial memory processes. Ethanol did not completely block the learning of the swim maze task but the alcohol-exposed offspring exhibited longer latencies to perform the task, swam longer distances prior to locating and climbing onto the platform, and when the platform was removed, searched for it in all 4 quadrants of the pool. Restricted caloric intake during gestation and maternal behavior in early postnatal life also induced deficits in the performance on the swim maze task. However, these deficits were mild and short-lasting being absent at 60 and 90 days of age. In contrast, the deficits induced by ethanol were more severe and longer-lasting, being present in adult life.

Animals↗
PubMed1991

Prenatal paternity testing by DNA analysis.

Prenatal paternity testing was evaluated by DNA analysis in chorionic villus biopsies obtained during the 7th-22nd weeks of gestation. Using highly polymorphic variable number of tandem repeats (VNTR) probes, we analysed four cases consisting of mother/child/alleged father trios. In all cases, we were able to detect maternal and paternal alleles and could establish or exclude paternity. The application of DNA analysis represents a new important diagnostic aid for all cases that require a prenatal identification of paternity.

Blotting, Southern↗
PubMedDate not supplied

Prenatal cocaine and alcohol exposures affect rat behavior in a stress test (the Porsolt swim test).

Prenatal cocaine and alcohol exposures have been associated with a variety of adverse effects ranging from subtle neurobehavioral abnormalities to major malformations. In this study, we used the Porsolt swim test to assess the effects of prenatal cocaine and alcohol exposures on stress-related behavior. Pregnant Long-Evans rats were injected daily with 80 mg/kg cocaine HCl (SC) or 6.2-6.5 g/kg ethyl alcohol (PO) from gestation days 7-20 with half the dose given in the morning and the other half in the afternoon. Pair-fed and ad lib control groups were also used. One male offspring from each litter was evaluated in the Porsolt swim test at the age of 120 days. The alcohol and cocaine groups were less immobile (i.e., struggled more to escape) than the controls. These results suggest that prenatal exposure to either alcohol or cocaine can adversely affect behavior in stressful or fearful situations.

Animals↗
PubMed1999

[Effect of prenatal stress on learning of rats in the Morris test].

Prenatal stress was found not to affect learning capability in Morris Water Maze in rats, although some difference was revealed in the rats behaviour. 2-month old rats who had been subjected to a prenatal stress, revealed an obvious trend towards less flexible strategy of behaviour and perseveration. At the age of 4 months, the difference between the control and experimental groups becomes negligible.

Animals↗
PubMedDate not supplied

Patient or physician preferences for decision analysis: the prenatal genetic testing decision.

The choice between amniocentesis and chorionic villus sampling for prenatal genetic testing involves tradeoffs of the benefits and risks of the tests. Decision analysis is a method of explicitly weighing such tradeoffs. The authors examined the relationship between prenatal test choices made by patients and the choices prescribed by decision-analytic models based on their preferences, and separate models based on the preferences of their physicians. Preferences were assessed using written scenarios describing prenatal testing outcomes, and were recorded on linear rating scales. After adjustment for sociodemographic and obstetric confounders, test choice was significantly associated with the choice of decision models based on patient preferences (odds ratio 4.44; Cl, 2.53 to 7.78), but not with the choice of models based on the preferences of the physicians (odds ratio 1.60; Cl, 0.79 to 3.26). Agreement between decision analyses based on patient preferences and on physician preferences was little better than chance (kappa = 0.085+/-0.063). These results were robust both to changes in the decision-analytic probabilities and to changes in the model structure itself to simulate non-expected utility decision rules. The authors conclude that patient but not physician preferences, incorporated in decision models, correspond to the choice of amniocentesis or chorionic villus sampling made by the patient. Nevertheless, because patient preferences were assessed after referral for genetic testing, prospective preference-assessment studies will be necessary to confirm this association.

Amniocentesis↗
PubMed1998

The role of physician preferences in the choice of amniocentesis or chorionic villus sampling for prenatal genetic testing.

Our objective was to determine the effect of physician preferences, as well as physician demographic, obstetric, and practice-related factors, on the choice of prenatal test made by their patients. We studied preferences for prenatal outcomes for 372 pregnant women who either chose amniocentesis (AMN) (n = 288) or chorionic villus sampling (CVS) (n = 84) for the indication of maternal age. We also studied preferences for these outcomes for the 92 physicians that referred them for testing. Preferences were assessed using written scenarios and were measured on linear rating scales. According to patients, the choice of prenatal test was made entirely or mostly by the physician in 14% of cases and was shared equally between patient and physician in 37% of cases. After adjustment for patient preferences, physician concern about spontaneous abortion of a normal fetus after CVS (odds ratio 0.71; CI, 0.48-1.05; p = 0.08), and a limb reduction (LRD) birth after CVS (odds ratio 0.85; CI, 0.68-1.05; p = 0.12), tended to decrease their patients' odds of choosing CVS, but the results were not statistically significant. No other physician preference, and no physician demographic, obstetric, or practice-related factor, influenced patient test choice. We conclude that after taking patient preferences into account, physician preferences and practice-related factors did not emerge as significant determinants of the choice of prenatal test made by their patients. It remains possible, however, that physician concern about spontaneous abortion and about LRD increase the likelihood of their patients choosing AMN over CVS.

Abortion, Spontaneous↗
PubMed2004

Assessment of demand for prenatal diagnostic testing using willingness to pay.

OBJECTIVE: To investigate the demand for invasive prenatal diagnostic testing (amniocentesis and chorionic villous sampling) in a racially/ethnically diverse group of pregnant women of all ages in the San Francisco Bay Area by using estimates of willingness to pay for these procedures. METHODS: We surveyed 447 women of varying ages, ethnicity, and socioeconomic levels to assess their desire to undergo and willingness to pay for invasive prenatal testing for chromosomal disorders. Each woman was asked what she would be willing to pay for invasive diagnostic testing up to the full cost of the procedure. We also asked several demographic and attitudinal questions. RESULTS: Overall, 49% of the women indicated an interest in undergoing invasive prenatal diagnostic testing. Women aged 35 years and older were more likely to desire testing as compared with women aged less than 35 years (72% versus 36%, P <.001). Of the women aged less than 35 years who desired testing, 31% indicated that they would be willing to pay the full price of $1,300, whereas 73% were willing to pay a portion of the cost. Maternal age of 35 years or greater (odds ratio [OR] 3.3; 95% confidence interval [CI] 2.0, 5.6) and willingness to have an elective abortion (OR 2.8; 95% CI 1.6, 4.9) were significant predictors of desire to undergo prenatal diagnostic testing after controlling for income, race/ethnicity, and education. Maternal age of 35 years or greater (OR 3.5; 95% CI 1.59, 7.88) and having an income greater than $35,000 (OR 2.3; 95% CI 1.02, 5.26) were significant predictors of willingness to pay the full price of testing. CONCLUSION: A substantial proportion of women of all ages indicate a desire to undergo and a willingness to pay for prenatal diagnostic testing. Variations in willingness to pay are correlated with both socioeconomic and attitudinal differences in addition to age. Guidelines regarding use of prenatal genetic diagnosis should be expanded to offer testing to all women, not just those deemed at increased risk. LEVEL OF EVIDENCE: II-2

Adult↗
PubMed1993

Prenatal genetic testing and geneticization: mother matters for all.

Prenatal genetic testing represents the most widespread human application of reproductive technology, and its use is necessarily gendered. Moreover, its application both reflects and generates the process of 'geneticization' that increasingly orients contemporary western-world stories of health and disease. Taking a woman-centered approach, this paper examines some of the stories being told about testing; questions their themes of 'reassurance' and 'choice', their construction of 'risk', and their assumptions about disability; and explores the 'life-style' testing creates for (pregnant) women. Testing itself, and its power to control how we live and the children we bear, raises complex and troubling matters that require continued and fresh examination.

Abortion, Induced↗
PubMed2006

The quest for the perfect baby: why do Israeli women seek prenatal genetic testing?

Since the mid-1990s, the Israeli medical scene has witnessed a real boom in elective prenatal testing for inherited diseases that has spread beyond risk groups to the general Jewish population, especially of Ashkenazi (European) origin. This study tried to identify key social influences involved in the growing range and prevalence of prenatal genetic tests as they emerged from women's own perspective. Twenty-seven women having blood tests for genetic mutations were interviewed at two types of genetic clinics, and re-interviewed after getting test results. The names of 23 women who chose not to have elective tests were obtained from testers, and these non-testers were interviewed for comparison. Women's accounts suggest that elective genetic testing is more acceptable, if not normative, among educated middle class Ashkenazi women, and is more often questioned and refused by lower class Mizrahi women, as well as religious women of any ethnic origin. The key forces that drive women's choice of prenatal genetic diagnosis include the fear of having a sick and/or socially unfit child in an unsupportive environment; strong endorsement of testing by gynaecologists; popular and professional discourse on the common Ashkenazi mutations causing genetic anxiety in this ethnic group (i.e. apprehension of multiple known and unknown dangers hidden in its genetic makeup); and the emerging social pressure for comprehensive prenatal screening as an indispensable part of good motherhood. Many women described the experience of testing as frustrating because of the long wait for results and difficulty of their interpretation and subsequent decision-making. Women who rejected elective tests explained their decision by moral/religious objections to abortion and/or eugenic aspects of prenatal screening, as well as by prohibitive costs and poor understanding of the tests' meaning and implications. Yet, few informants voiced objections to the excessive medicalisation of pregnancy as such; ethno-national motives of reproductive decisions were also uncommon in this group. More critical reflection is clearly needed from both providers and users of elective genetic screening before the more widespread uptake of this practice.

Adult↗
PubMed2003

Factors affecting performance of prenatal genetic testing by Israeli Jewish women.

The number of prenatal genetic tests that are being offered to women is constantly increasing. However, there is little national data as to who is performing the tests and the reasons for doing or not doing so. This study evaluated the proportion of Jewish women in Israel who perform the various prenatal genetic tests and the factors affecting the performance of these tests. It was found that 60.9% of the women performed the triple test, 50.8% of women older than 35 years performed amniocentesis, while 63.3 and 24.3% of women performed Tay-Sachs and fragile-X carrier testing respectively. Ninety-six percent of the secular women compared to only 6.7% of the ultrareligious women performed the triple test. It was also found that94.4% of the secular women, 36.4% of the religious, and none of the ultrareligious women older than 35 years performed amniocentesis. In the stepwise regression analysis, being secular, having a higher income, fewer children, and being of Ashkenazi origin remained significant factors in determining performance of Tay-Sachs carrier testing. As regards fragile-X carrier testing, being secular, having fewer than four children, and having a higher income and a supplementary medical insurance remained significant factors. The main reason reported by the women for not performing amniocentesis or the triple test was for religious or moral grounds (53.3 and 67% respectively). The main reason given for not performing Tay-Sachs or fragile-X testing was that they were not referred for the tests (76 and 82% respectively). Consideration should be given to providing first trimester prenatal diagnosis to the ultrareligious group, including state subsidized fragile-X testing and educating the primary care givers about the importance of prenatal genetic testing. The information from the present study is vital for the planning of an equitable prenatal genetic service and provides guidelines for the implementation of such services in other countries.

Amniocentesis↗
PubMed1989

Prenatal exclusion testing for Huntington disease using the polymerase chain reaction.

Prenatal exclusion of Huntington disease (HD) may be carried out by analysis of cosegregating DNA markers on a first-trimester chorionic villus sample. The conventional Southern blot method is time-consuming and requires microgram quantities of DNA and milligram quantities of villus tissue. The use of the polymerase chain reaction (PCR) to amplify genomic DNA by a factor of 10(7) or more makes it possible to do analyses on very small samples in a few hours and without recourse to Southern blotting or hybridization with radioactive probes. We report on a fetus at risk of HD; prenatal testing was carried out by using the PCR to amplify a polymorphic DNA sequence adjacent to the HD locus. The risk of the fetus inheriting the HD gene could not be excluded and the pregnancy was terminated. This represents an example of gene tracking by using amplification of a restriction fragment length polymorphism at some distance from the relevant mutation.

Adult↗
PubMed2001

Attitudes of young patients with Parkinson's disease towards possible presymptomatic and prenatal genetic testing.

OBJECTIVE: To evaluate the opinions and attitudes of young patients with Parkinson's disease (PD) towards possible presymptomatic and prenatal genetic testing for their illness. BACKGROUND: With progress in understanding of the genetic component in the etiology of PD, presymptomatic genetic testing may become available in subgroups of patients. METHODS: During a survey on sociodemographic and risk factors 111 PD patients (mean age 45 years: mean age at PD onset 36 years) were given a questionnaire with six items about possible presymptomatic and prenatal genetic testing. RESULTS: Fifty-seven patients (5196) had knowledge about presymptomatic and prenatal testing. Eighty patients (72%) would take a presymptomatic test, if they had an autosomal dominant form of PD and if the test were available. The most Important reasons given for taking the test were planning of partnership (40%) and family (48%). When being identified as a carrier of a presumed "Parkinson gene", 78 patients (70%) would decide not to have children. Sixty-three patients (57%) would choose to have prenatal testing. Attitudes were largely independent of sociodemographic and disease variables. CONCLUSIONS: When addressed as hypothetical persons at genetic risk, young patients with PD support possible presymptomatic genetic testing and, to a lesser extent, prenatal testing. Attitudes and reasons to participate in such hypothetical testing do not grossly differ from those of at-risk persons in established single-gene autosomal dominant disorders of late onset.

Adult↗
PubMed2005

Negotiating responsibility: case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington disease.

Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of prenatal testing on this process. This involves analyzing: how people present themselves as acting responsibly whether or not they utilize genetic testing; who they feel responsible to in their family and elsewhere; the impact that testing has on these relationships; and, how negotiating responsibility changes over time with repeated use of prenatal testing, changing risk status and maturational changes. Two key findings are: how decision-making is perceived can become as important as what is decided; and, how responsibility is negotiated depends on which of these relationships are prioritized. Implications of the findings for clinical practice are noted and suggestions made for further applications of the model.

Adult↗