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PubMed1987

Routine hepatitis screening in adolescent pregnancies: is it cost effective?

In most obstetric centers routine serum screening for hepatitis B is not part of standard prenatal care. This study was designed to determine whether hepatitis B screening is cost effective for routine prenatal testing. In a prenatal population of 585 adolescents the cost-benefit ratio of hepatitis B screening was compared with that of routine syphilis screening. Eight positive results were detected, with a cost of $1755 per positive case. This compared favorably with the frequency and cost of detection of syphilis in the same population. Routine hepatitis B screening is recommended for consideration in similar prenatal populations.

Adolescent↗
PubMed2006

Amniocentesis results: investigation of anxiety. The ARIA trial.

OBJECTIVES: The Amniocentesis Results: Investigation of Anxiety (ARIA) trial tested two hypotheses: first, that giving amniocentesis results out on a fixed date alters maternal anxiety during the waiting period, compared with a policy of telling parents that the result will be issued 'when available' (i.e. a variable date), and secondly, that issuing early results from a rapid molecular test alters maternal anxiety during the waiting period, compared with not receiving any results prior to the karyotype. The effects of the two interventions on anxiety 1 month after receiving karyotype results were also examined. DESIGN: A multi-centre, randomised, controlled, open fixed sample, 2 x 2 factorial design trial, with equal randomisation. SETTING: Twelve hospitals in England offering amniocentesis as a diagnostic test for Down's syndrome. PARTICIPANTS: A total of 226 women who had had an amniocentesis were randomised between June 2002 and July 2004. Eight women with abnormal results or test failure were excluded post-randomisation. INTERVENTIONS: Issuing karyotype results on a prespecified fixed date, rather than issuing them as soon as they became available and issuing karyotype results alone, or subsequent to issuing results from a rapid molecular test for the most common chromosomal abnormalities. MAIN OUTCOME MEASURES: Average anxiety during the waiting period, calculated using daily scores from the short version of the Spielberger State-Trait Anxiety Inventory (STAI). Recalled anxiety, measured 1 month after receiving karyotype results, using a rating scale. Anxiety at the 1-month follow-up, measured using the short-form STAI. RESULTS: There was no evidence that giving out karyotype results on a fixed or on a variable date altered maternal anxiety during the waiting period. However, the analysis only had sufficient power to detect a moderate to large effect. Issuing early results from a partial, but rapid, test reduced maternal anxiety during the waiting period, compared with receiving only the full karyotype results. This was a moderate to large effect. In addition, group differences in recalled anxiety reflected fairly closely the differences in anxiety women had experienced while waiting for results. One month after receiving normal karyotype results, anxiety was low in all groups, but women who had been given rapid test results were more anxious than those who had not. This was a small to moderate effect. CONCLUSIONS: Since there are no clear advantages in anxiety terms of issuing karyotype results as soon as they become available, or on a fixed date, women could be given a choice between them. Rapid testing was a beneficial addition to karyotyping, at least in the short term. This does not necessarily imply that early results would be preferred to comprehensive ones if women had to choose between them. There should be further research, including more qualitative studies, into the causes, characteristics and consequences of anxiety associated with prenatal testing. The effects of different testing regimes on short- and long-term anxiety, on the preferences of women and on the relationship between anxiety and preference should be investigated. More research is needed on the ways in which information might be used to minimise anxiety in different testing regimes. Further research is also required into the policy implications of incorporating individual preferences for different testing regimes into prenatal testing programmes.

Adult↗
PubMed2002

Depressive reactions and stress related to prenatal medicine procedures.

OBJECTIVE: The experience of pregnancy is mainly influenced by the availability of prenatal screening procedures. Previous screening studies focus on somatic abnormalities. The psychological experience of the parents-to-be recedes into the background. The purpose of the present study was to analyze the emotional mood of pregnant women and their partners before and their psychological stress before and after different prenatal screening procedures (ultrasound, chorionic villus sampling or amniocentesis). METHODS: In the study, 140 pregnant women, and, in 108 cases, their partners, were asked to complete questionnaires before and immediately after the prenatal testing. Depending on the applied prenatal procedure, the subjects were assigned to: the invasive group (amniocentesis or chorionic villus sampling) and the noninvasive group (ultrasound group). We used the German version of the Centre for Epidemiological Studies-Depression Scale of Hautzinger and the short questionnaire of actual situative perceived stress of Müller. RESULTS: Before the prenatal examination, the mean level of depression of pregnant women was the highest in the noninvasive group compared to the invasive group, although the between-group difference was not significant. However, for their male partners, the mean level of depression was significantly different between the noninvasive and the invasive groups. Furthermore, women undergoing invasive diagnostic or noninvasive diagnostic procedures were significantly more depressed than their partners. The analysis of the actual stress ratings showed a significant reduction from the prescreening to the postscreening stress for pregnant women and their partners in both groups. CONCLUSIONS: This study reveals that the individual experience of prenatal diagnosis is not determined by the invasiveness of the procedure. Immediate visual presentation of the fetus and confirmation of a normal test result reduce stress that has previously been induced by the prenatal test itself. This contradiction should be discussed with the parents.

Adult↗
PubMed2004

Testing the prenatal hormone hypothesis of tic-related disorders: gender identity and gender role behavior.

The hypothesis that prenatal masculinization of the brain increases risk of tic disorders in postnatal life was tested by measuring gender and gender role behavior in 89 children and adults with a clinical diagnosis of Tourette syndrome or obsessive compulsive disorder and 67 healthy, unaffected children and adults. Consistent with this hypothesis, a tic disorder in females was associated with more gender dysphoria, increased masculine play preferences, and a more typically "masculine" pattern of performance on two sex-typed spatial tasks. Males with tic disorders reported increased masculine play preferences, and the strength of these preferences was positively associated with the severity of tic symptoms. In addition, unlike their female counterparts, males with tic disorders showed a relative impairment in mental rotation ability. These behavioral profiles are consistent with those of children who have verifiable elevations in prenatal androgen levels. These findings therefore support the hypothesis that an altered androgen-dependent process of sexual differentiation during prenatal life may contribute to the development of tic-related disorders.

Adolescent↗
PubMed2006

Prenatal genetic testing kits sold at your local pharmacy: promoting autonomy or promoting confusion?

Research groups around the world are developing non-invasive methods of prenatal genetic diagnosis, in which foetal cells are obtained by maternal blood test. Meanwhile, an increasing number of genetic tests are sold directly to the public. I extrapolate from these developments to consider a scenario in which PNGD self-testing kits are sold directly to the public. Given the opposition to over-the-counter genetic tests and the continuing controversy surrounding PNGD, it is reasonable to expect objections to PNGD self-testing kits. I focus on one potential objection, that PNGD self-testing kits would undermine the autonomy of potential test subjects. More specifically, that 'direct to the public' PNGD would fail to ensure that consumers exercise authority in the following PNGD-related choices: Should I use PNGD? Based on the results of the PNGD test, should I continue or terminate my pregnancy? Under the current system, PNGD is provided by health care practitioners, who are required to counsel women both before and after the test. In contrast, 'direct to the public' PNGD would allow women to make their PNGD-related decisions outside the context of the health care system. I compare these two decision-making contexts, arguing that the health care system is not unequivocally better at promoting the autonomy of potential test subjects. Therefore the promotion of autonomy does not constitute a strong argument against such test kits. Other objections may be more persuasive, so I do not offer an overall assessment of the acceptability of 'direct to the public' PNGD.

Abortion, Eugenic↗
PubMed1996

Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

OBJECTIVE: To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN: Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS: All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES: Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS: Among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. CONCLUSIONS: Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome.

Adolescent↗
PubMed1997

[Prenatal and postnatal prevalence of Turner syndrome. A registry-based study].

The prevalence of Turner's syndrome in Denmark 1970-1993 was studied and the validity of prenatal diagnosis was assessed. The study was conducted on prenatal and postnatal Turner's syndrome in the Danish Cytogenetic Central Register. All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) at the Danish Cytogenetic Central Register were included. The main outcome measures were prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. The results showed that among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 of the children were live born. Thirteen of the liveborn children were karyotyped postnatally, and the diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives a tentative predictive value of amniocentesis in the diagnosis of Turner's syndrome between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. In conclusion, a discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges the specificity of prenatal examination in diagnosing Turner's syndrome.

Adult↗
PubMed2004

Factors affecting women's preference for type of prenatal screening test for chromosomal anomalies.

OBJECTIVE: To ascertain, by means of a questionnaire, women's preferences for four different approaches to prenatal screening for Down syndrome. METHODS: Women attending antenatal clinics at six UK maternity units were asked to put in order of preference four different approaches to screening for Down syndrome all of which had the same false positive rate of 5%. The options were: (1) first-trimester testing, 90% detection of Down syndrome with results available in 1 h at one-stop clinics for the assessment of risk (OSCAR); (2) first-trimester testing, 90% detection and results available within 2-3 days (combined screening); (3) first-trimester testing plus second-trimester testing, 93% detection and results available within 2-3 days of second test (integrated testing); (4) second-trimester testing, 75% detection and results available within 2-3 days. RESULTS: Over 1100 women attending antenatal clinics at six maternity units across the UK returned the questionnaire. A total of 75% of women selected a first-trimester test (option 1 or option 2) as their first choice with 68.2% expressing a preference for the OSCAR approach and a further 6.8% for combined screening. Twenty-four percent of women opted for integrated testing as their first choice with only 1% expressing a preference for second-trimester screening. CONCLUSIONS: A first-trimester test is preferred by the majority of women over a test with marginally higher detection rate that delivers results later in pregnancy. Timing and rapid reporting of results appear to influence women's choice of test.

Biomarkers↗
PubMed2000

Prenatal diagnosis for detecting congenital malformations: acceptance among Israeli Arab women.

BACKGROUND: A high rate of consanguineous marriages exists within the Israeli Arab community, with approximately half occurring between first cousins. This contributes towards a high incidence of congenital malformations and autosomal recessive diseases, many of which are detectable at prenatal diagnosis. OBJECTIVES: To assess the levels of both awareness and acceptance regarding prenatal diagnosis and termination of pregnancy among a group of Arab women in order to devise the optimal means of providing genetic counseling and general health services. METHODS: A total of 231 Arab women of childbearing age were interviewed 3 days postpartum to assess their knowledge of prenatal diagnosis and termination of pregnancy, their willingness to undergo prenatal diagnosis, and their opinions on termination of pregnancy in the event of a severely affected fetus. RESULTS: Half the women believed that prenatal testing is not an effective (or accurate) tool for diagnosing an affected fetus. A quarter had poor knowledge on prenatal diagnosis, and a quarter believed that prenatal diagnosis does provide the correct diagnosis. Ninety-five percent said they would agree to undergo prenatal diagnosis; and in the event of a severely affected fetus, 36% said they would agree to a termination of pregnancy, 57% said they would not, and 7% were undecided. CONCLUSIONS: There is a need for special intervention programs, with guidance by health professionals, geneticists and religious authorities, that will inform this population on the increased risk associated with consanguinity, stress the importance and effectiveness of prenatal testing to identify severe congenital malformations, and help them to accept prenatal diagnosis and termination of pregnancy if indicated.

Abortion, Eugenic↗
PubMed1997

Application of the 'Apt test' in prenatal diagnosis to evaluate the fetal origin of blood obtained by cordocentesis: results of 30 pregnancies.

This study aimed to set up a practical lab-side approach to discriminate fetal from maternal blood in samples obtained by cordocentesis. To determine the fetal origin of the blood, a modified Apt test was applied to 30 cases of prenatal diagnosis. A change of colour of the fetal and adult blood during the procedure was the hallmark to assess fetal origin. At the end of 60 s of the test, fetal blood yielded a pink colour whereas adult blood was dark green-brown. The test was repeated in mixtures of fetal and adult blood. The results suggest that the modified Apt test is a practical, quick, inexpensive, and efficient test to determine the origin of blood samples obtained by cordocentesis. However, it should be kept in mind that samples containing a mixture of both fetal and adult blood could also yield a fetal blood reaction. When maternal contamination is suspected, we propose that at least 30 metaphases from different slides should be counted. This could yield fetal as well as maternal chromosomes.

Cordocentesis↗
PubMed2002

Attitudes towards future testing for bipolar disorder susceptibility genes: a preliminary investigation.

The discovery of susceptibility genes for the major psychiatric illnesses may lead to the development of presymptomatic and prenatal tests. In a preliminary study we assessed the attitudes of 147 bipolar patients, 90 attendees at their family doctor (GP) and 32 psychiatrists to the possible development of genetic tests for bipolar disorder susceptibility genes. Our results suggest that patients and the public will look favourably on the development of presymptomatic (but not prenatal) testing for bipolar disorder susceptibility genes. Psychiatrists, who will have to administer such tests, appear significantly more cautious.

Adult↗
PubMed2001

Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal).

OBJECTIVE: Machado-Joseph disease (MJD) reaches its highest prevalence world-wide in the Azores, thus constituting a public health problem in these islands. The aim of the study was thus to (1) determine the level of knowledge about the disease; (2) estimate the expected level of request for predictive testing, and (3) analyse the intentions of at-risk individuals concerning their reproductive decisions. METHODS: A questionnaire on these points was distributed to 42 affected and 36 at-risk individuals. RESULTS: As expected, the educational level of the respondents was significantly associated with the level of knowledge about the disease. The survey indicated that 83.3% of the at-risk individuals would make use of predictive test and that 77.8% would make use of prenatal diagnosis. Of the latter, 36.1% would terminate pregnancy if confronted with a positive result for the fetus. CONCLUSIONS: The level of knowledge about MJD in the Azorean families is considered to be fair. Although the actual behavior can prove to be different from the intentions put forward by at-risk individuals based solely on the results of this study we can estimate that the request for a predictive test would be quite high. The intentions expressed by at-risk individuals seem to indicate that the prenatal diagnosis will have an effect on their reproductive decisions. Results obtained certify the importance of implementing genetic testing for MJD in the Azores.

Attitude to Health↗