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Prenatal Testing (prenatal + testing)
Selected AbstractsPrenatal Testing & Disability RightsNURSING PHILOSOPHY, Issue 1 2002Steven Edwards First page of article [source] The impact of first-trimester screening on AMA patients' uptake of invasive testingPRENATAL DIAGNOSIS, Issue 5 2005Andrea M. Wray Abstract 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. Copyright © 2005 John Wiley & Sons, Ltd. [source] Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiencyPRENATAL DIAGNOSIS, Issue 1 2002B. C. Paton Abstract Prenatal diagnosis was requested for a couple with a previous child affected by the peroxisomal disorder D-bifunctional protein deficiency. Prior analysis of the D-bifunctional protein cDNA sequence from the propositus had shown that it was missing 22,bp. This was subsequently attributed to a point mutation in the intron 5 donor site (IVS5+1G>C) of the D-bifunctional protein gene. Consistent with parental consanguinity, the patient was shown to be homozygous for this mutation, which is associated with loss of a Hph 1 restriction site in the genomic sequence. Prenatal testing of the fetus using genomic DNA isolated from uncultured amniocytes indicated that both alleles of the D-bifunctional protein had the IVS5+1G>C substitution. The peroxisomal defect was later confirmed biochemically using cultured amniocytes, which were found to have elevated levels of very long chain fatty acids (VLCFA). This is the first report of prenatal diagnosis of D-bifunctional protein deficiency using molecular analysis of genomic DNA. Copyright © 2002 John Wiley & Sons, Ltd. [source] The next exclusion debate: Assessing technology, ethics, and intellectual disability after the human genome projectDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 2 2007Kelly M. Munger Abstract Recent scientific discoveries have made it much easier to test prenatally for various genetic disabilities, such as Down syndrome. However, while many observers have heralded such "advances" for their effectiveness in detecting certain conditions, others have argued that they perpetuate discrimination by preventing the birth of children with disabilities. This article examines the ethical and social implications of the Human Genome Project for individuals with intellectual disabilities and their families. It details the critique of prenatal testing articulated by many disability rights activists as well as scholarly and professional responses to that critique. A review of the pertinent research literature includes perspectives of genetic professionals, ethicists, disability studies scholars, parents of children with disabilities, and disabled individuals themselves. Finally, the article explores how future research endeavors, policies, and practices may more effectively integrate and respect the positions of these various stakeholders. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:121,128. [source] Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian populationEUROPEAN JOURNAL OF NEUROLOGY, Issue 1 2010M. Hasanzad Background and purpose:, Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. Carrier frequency studies of SMA have been reported for various populations. Although no large-scale population-based studies of SMA have been performed in Iran, previous estimates have indicated that the incidence of autosomal recessive disorder partly because of the high prevalence of consanguineous marriage is much higher in the Iranian population than in other populations. Methods:, In this study, we used a reliable and highly sensitive quantitative real-time PCR assay with SYBR green I dye to detect the copy number of the SMN1 gene to determine the carrier frequency of SMA in 200 healthy unrelated, non-consanguineous couples from different part of Iran. Results:, To validate the method in our samples, we determined the relative quantification (RQ) of patients with homozygous deletion (0.00) and hemyzygous carriers (0.29,0.55). The RQ in 10 of 200 normal individuals were within the carrier range of 0.31,0.57, estimating a carrier frequency of 5% in the Iranian population. Conclusions:, Our data show that the SMA carrier frequency in Iran is higher than in the European population and that further programs of population carrier detection and prenatal testing should be implemented. [source] Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM geneHUMAN MUTATION, Issue 1 2001Sabine Weller Abstract L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental retardation, spastic paraplegia, and adducted thumbs. The responsible gene, L1CAM, encodes the L1 protein which is a member of the immunoglobulin superfamily of neuronal cell adhesion molecules. The L1 protein is expressed in neurons and Schwann cells and seems to be essential for nervous system development and function. The patients' gene mutations are distributed over the functional protein domains. The exact mechanisms by which these mutations cause a loss of L1 protein function are unknown. There appears to be a relationship between the patients' clinical phenotype and the genotype. Missense mutations in extracellular domains or mutations in cytoplasmic regions cause milder phenotypes than those leading to truncation in extracellular domains or to non-detectable L1 protein. Diagnosis of patients and carriers, including prenatal testing, is based on the characteristic clinical picture and DNA mutation analyses. At present, there is no therapy for the prevention or cure of patients' neurological disabilities. Hum Mutat 18:1,12, 2001. © 2001 Wiley-Liss, Inc. [source] Reproductive Freedom, Self-Regulation, and the Government of Impairment in UteroHYPATIA, Issue 1 2006Shelley Tremain This article critically examines the constitution of impairment in prenatal testing and screening practices and various discourses that surround these technologies. While technologies to test and screen (for impairment) prenatally are claimed to enhance women's capacity to be self-determining, make informed reproductive choices, and, in effect, wrest control of their bodies from a patriarchal medical establishment, I contend that this emerging relation between pregnant women and reproductive technologies is a new strategy of a form of power that began to emerge in the late eighteenth century. Indeed, my argument is that the constitution of prenatal impairment, by and through these practices and procedures, is a widening form of modem government that increasingly limits the field of possible conduct in response to pregnancy. Hence, the government of impairment in utero is inextricably intertwined with the government of the maternal body. [source] Prenatal diagnosis of genodermatoses: current scope and future capabilitiesINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 4 2010Minnelly Luu MD The genodermatoses encompass a range of inheritable skin diseases that may be associated with significant mortality and long-term morbidity. In the past, options for prenatal diagnosis of these diseases were limited to fetal skin biopsy. As a result of recent leaps made in genetics and molecular biology, DNA-based prenatal diagnosis is now available for an increasing number of genodermatoses, and newer non-invasive methods are being developed that have the potential for tremendous future impact in dermatology. Dermatologists caring for patients with genodermatoses should be aware of the options for screening and prenatal testing and partake in a multi-disciplinary approach to patient care. [source] Intracardiac echogenic focus and fetal outcomeJOURNAL OF CLINICAL ULTRASOUND, Issue 9 2010Geetika Gupta MS Abstract Background To study the outcome of the fetuses with intracardiac echogenic focus (ICEF). Methods All patients who were found to have one or more ICEF on sonographic (US) examination at our center from January 2007 through January 2009 were included in this retrospective study. ICEF was defined as a discrete area of echogenicity noted in the left or right ventricle, which was as bright as bone. Patients were followed up to know pregnancy outcome. Results Of 762 fetuses evaluated by US, 48 (6.3%) were found to have an ICEF. Thirty-one of these 48 fetuses had an isolated ICEF; 11 had associated major malformations, and the remaining 6 had no major US abnormalities but were found to have other soft markers. Invasive prenatal testing was done in 21 cases for risk factors other than ICEF and was found to be abnormal in two cases. Seven pregnancies were terminated due to associated major malformations. Conclusion The prevalence of ICEF was 6.3%. Of 31 fetuses with an isolated ICEF, outcomes of 28 fetuses are known and all neonates were reported to be normal at birth. Thus we infer that the presence of an isolated ICEF has no adverse effect on outcome of the neonate. © 2010 Wiley Periodicals, Inc. J Clin Ultrasound, 2010 [source] Invasive prenatal testing decisions in pregnancy after infertility,PRENATAL DIAGNOSIS, Issue 6 2010Colleen Caleshu Abstract Objective This study assessed decisional conflict about invasive prenatal testing among women pregnant after infertility. Methods We surveyed 180 pregnant women with a history of infertility using a mixed methods cross-sectional design. Difficulty in deciding whether to have prenatal testing was measured using the Decisional Conflict Scale. Results A minority of women (31%) chose to have invasive prenatal testing. Most participants (72%) reported low decisional conflict (score < 25; mean = 22.1; standard deviation = 23.2; range: 0,100). Half (53%) of the participants said that infertility made the testing decision easier. Qualitative data suggest that infertility makes the decision easier by clarifying relevant values and priorities. Most infertility characteristics studied were not significantly associated with decisional conflict. Variables associated with higher decisional conflict included infertility distress due to rejection of a childfree lifestyle, disagreement with others about testing, and choosing to have invasive testing after having had treatment for infertility. Conclusions For some women, infertility may make the invasive prenatal testing decision easier. Women with the greatest need for decisional support were those who have had treatment and choose invasive testing, who disagree with others about their testing choice, or who are particularly distressed about being childless. Copyright © 2010 John Wiley & Sons, Ltd. [source] Decisional needs assessment regarding Down syndrome prenatal testing: a systematic review of the perceptions of women, their partners and health professionalsPRENATAL DIAGNOSIS, Issue 13 2008Sylvie St-Jacques Abstract Objective To identify decisional needs of women, their partners and health professionals regarding prenatal testing for Down syndrome through a systematic review. Methods Articles reporting original data from real clinical situations on sources of difficulty and/or ease in making decisions regarding prenatal testing for Down syndrome were selected. Data were extracted using a taxonomy adapted from the Ottawa Decision-Support Framework and the quality of the studies was assessed using Qualsyst validated tools. Results In all 40 publications covering 32 unique studies were included. The majority concerned women. The most often reported sources of difficulty for decision-making in women were pressure from others, emotions and lack of information; in partners, emotion; in health professionals, lack of information, length of consultation, and personal values. The most important sources of ease were, in women, personal values, understanding and confidence in the medical system; in partners, personal values, information from external sources, and income; in health professionals, peer support and scientific meetings. Conclusion Interventions regarding a decision about prenatal testing for Down syndrome should address many decisional needs, which may indeed vary among the parties involved, whether women, their partners or health professionals. Very little is known about the decisional needs of partners and health professionals. Copyright © 2008 John Wiley & Sons, Ltd. [source] Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimensPRENATAL DIAGNOSIS, Issue 9 2008Lisa G. Shaffer Abstract Objective To compare the detection rate by microarray analysis for chromosome abnormalities in a prenatal population to that of a neonatal population referred for diagnostic testing. Methods Array comparative genomic hybridization (aCGH) analysis was performed for 151 prenatal cases and compared with the results from 1375 postnatal cases less than 3 months of age. Results Two of 151 prenatal cases (1.3%) showed a clinically significant cytogenetic abnormality. In contrast, of the 1375 postnatal cases studied, 11.4% showed a cytogenetic abnormality by aCGH. Many of these (40%) were referred for aCGH because of dysmorphic features, a clinical indication unlikely to be identified in the prenatal population. Conclusions The chance of detecting a chromosome abnormality in a prenatal population that has already been screened by routine cytogenetics is ,1.3%. However, given that many of the abnormal array results in the neonatal population were among those with dysmorphic features as the primary indication for testing, which are not easily identifiable by ultrasound, offering prenatal testing by aCGH to a wider population would likely result in a higher detection rate. Copyright © 2008 John Wiley & Sons, Ltd. [source] Prenatal screening and diagnosis of congenital toxoplasmosis: a review of safety issues and psychological consequences for women who undergo screeningPRENATAL DIAGNOSIS, Issue 5 2007Babak Khoshnood Abstract As part of the EUROTOXO initiative, this review focuses on the potential risks associated with prenatal testing for congenital toxoplasmosis. We first review the evidence on the risks of adverse events associated with amniocentesis, which is required for definitive diagnosis of toxoplasmosis infection in the fetus, and for which the most important risk is fetal loss. To date, there has been only one randomized trial to document risks associated with amniocentesis. This trial, which was conducted in 1986, reported a procedure-related rate of fetal loss of 1.0% (95% CI, 0.3,1.5). However, evidence from available controlled studies suggests that the pregnancy loss associated with mid-trimester amniocentesis may be lower. Potential psychological consequences of prenatal testing for congenital toxoplasmosis include parental anxiety due to false positive results and uncertainties related to prognosis of children with a prenatal diagnosis of congenital toxoplasmosis. Parental anxiety may be particularly important in screening strategies that include more frequent screenings, which may in turn entail substantial, and at times unnecessary, anxiety or other negative consequences for women and their families. These negative psychological outcomes should be balanced against the benefits of testing, which can allow women to make an informed choice regarding the pregnancy. Copyright © 2007 John Wiley & Sons, Ltd. [source] Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancyPRENATAL DIAGNOSIS, Issue 12 2005Jon A. Hyett Abstract Objective This study reviews our clinical experience of non-invasive techniques for early sex determination. It assesses the effectiveness of these techniques at reducing invasive prenatal testing for X-linked genetic disease or for ambiguous development of the external genitalia. Methods A prospective cohort study of 30 pregnancies was referred to a tertiary unit for prenatal diagnosis. Fetal gender was determined using two non-invasive techniques: analysis of free fetal DNA (ffDNA) in maternal plasma and ultrasound visualisation. The results were compared to fetal gender determined by invasive testing or at birth. Results Fetal gender was accurately determined by analysis of ffDNA at a mean of 10 + 1 (7 + 6 to 14 + 1) weeks' gestation in all cases. Ultrasound assessment was accurate in 20 of the 23 cases where this was attempted at 12 + 0 (10 + 4 to 14 + 1) weeks' gestation, but could not be determined in the remaining 3 cases. Thirteen of 28 (46%) women chose not to have invasive testing on the basis of these findings. Conclusions Both the techniques appear to offer an accurate means of assessing fetal gender, giving parents the option of avoiding invasive testing in the 50% of cases where the fetus would not be affected. The molecular technique is performed at an earlier gestation, but female fetal status is predicted by a negative test result. Ultrasound cannot be applied until 11 weeks' gestation but diagnostic signs are sought in both sexes. Combining these approaches offers a highly sensitive method of non-invasive determination of gender in high-risk pregnancies. Health professionals, clinical geneticists and genetics associates, in particular, who refer women at high risk should be aware of these non-invasive options for prenatal sex determination. Copyright © 2005 John Wiley & Sons, Ltd. [source] Educating general practitioners about prenatal testing: approaches and challengesPRENATAL DIAGNOSIS, Issue 7 2005Sylvia Metcalfe Abstract Objectives To examine the effects of an education intervention on the knowledge and practice behaviours of general practitioners (GPs) regarding prenatal screening and diagnostic testing in Melbourne, Australia. Methods A single group, pre-test, repeated post-test design was used. Information on demographics, knowledge, behaviours and skills was collected via a self-administered questionnaire prior to the educational intervention. Responses to individual questions were coded and scores calculated, as well as a percent total score. Following the education, data were again collected, immediately afterwards (Post-Q) and six-to-eight months later (Foll-Q). Results Data for all three time points were collected from 63 GPs and showed a variable, and relatively poor knowledge regarding aspects of prenatal testing, especially before education. The percent mean total score at baseline was 51.2 ± 1.59% (CI 48.02 to 54.39), which increased significantly (p < 0.001) in both Post-Q (62.88 ± 1.51%; CI 59.86 to 65.89) and Foll-Q (58.92 ± 1.6%; CI 55.71 to 62.12). Conclusion The educational intervention significantly increased knowledge and practice behaviour of GPs, even up to eight months later, but this could be improved further, to a considerable extent. There is a need for ongoing multi-faceted approaches to educating GPs on prenatal testing to ensure that they are engaged in appropriate practice. Copyright © 2005 John Wiley & Sons, Ltd. [source] Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctataPRENATAL DIAGNOSIS, Issue 9 2003N. V. Whittock Abstract X-linked dominant chondrodysplasia punctata, (CDPX2,MIM302960) also known as Conradi,Hünermann,Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton, skin, hair, and eyes. The disorder is caused by mutations within the emopamil binding protein (Ebp) that functions as a delta(8), delta(7) sterol isomerase in the cholesterol biosynthesis pathway. To date, over 40 separate mutations have been reported in the Ebp gene, EBP, with no obvious correlation between the molecular defects and the severity of the clinical phenotype. We have studied a 30-year-old woman who presented in adulthood with skin, hair, and mild skeletal defects but no ocular abnormalities and have identified a heterozygous missense mutation within the third transmembrane domain of the protein. In addition, we have performed molecular prenatal testing on her unborn fetus. The results demonstrate inter-familial variability for missense mutations within the emopamil binding protein and add to the molecular data for CDPX2. Copyright © 2003 John Wiley & Sons, Ltd. [source] Discrepant Feeling Rules and Unscripted Emotion Work: Women Coping With Termination for Fetal AnomalyAMERICAN JOURNAL OF ORTHOPSYCHIATRY, Issue 4 2009Judith L. M. McCoyd PhD The sociology of emotion is rapidly evolving and has implications for medical settings. Advancing medical technologies create new contexts for decision-making and emotional reaction that are framed by "feeling rules." Feeling rules guide not only behavior, but also how one believes one should feel, thereby causing one to attempt to bring one's authentic feelings into line with perceived feeling rules. Using qualitative data, the theoretical existence of feeling rules in pregnancy and prenatal testing is confirmed. Further examination extends this analysis: at times of technological development feeling rules are often discrepant, leaving patients with unscripted emotion work. Data from a study of women who interrupted anomalous pregnancies indicate that feeling rules are unclear when competing feeling rules are operating during times of societal and technological change. Because much of this occurs below the level of consciousness, medical and psychological services providers need to be aware of potential discrepancies in feeling rules and assist patients in identifying the salient feeling rules. Patients' struggles ease when they can recognize the discrepancies and assess their implications for decision-making and emotional response. [source] Population-based carrier screening for cystic fibrosis in Victoria: The first three years experienceAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 5 2009John MASSIE Background: Cystic fibrosis (CF) is the most common inherited, life-shortening condition affecting Australian children. The carrier frequency is one per 25 and most babies with CF are born to parents with no family history. Carrier testing is possible before a couple has an affected infant. Aims:, To report the outcomes of a carrier screening program for CF. Method: Carrier screening was offered to women and couples planning a pregnancy, or in early pregnancy, through obstetricians and general practitioners in Victoria, Australia. Samples were collected by cheek swab and posted to the laboratory. Twelve CFTR gene mutations were tested. Carriers were offered genetic counselling and partner testing. Carrier couples were offered prenatal testing by chorionic villous sampling (CVS) if pregnant. The number of people tested, carriers detected and pregnancy outcomes were recorded from January 2006 to December 2008. Results: A total of 3200 individuals were screened (3000 females). One hundred and six carriers were identified (one per 30, 95% confidence interval one per 25, one per 36). All carrier partners were screened, and nine carrier couples identified (total carriers 115). Ninety-six individuals (83%) were carriers of the p.508del mutation. Of the nine carrier couples, six were pregnant at the time of screening (five natural conception and one in vitro fertilisation) and all had CVS (mean gestation 12.5 weeks). Two fetuses were affected, three were carriers and one was not a carrier. Termination of pregnancy was undertaken for the affected fetuses. Conclusion: Carrier screening for CF by obstetricians and general practitioners by cheek swab sample can be successfully undertaken prior to pregnancy or in the early stages of pregnancy. [source] Women's and health professionals' preferences for prenatal testing for Down syndrome in AustraliaAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2006Sharon M. LEWIS Abstract Aim:, To describe and compare women's and health professionals' preferences for prenatal screening tests for Down syndrome. Design:, Cross-sectional questionnaire survey. Participants and setting:, Women (n = 322) attending for a glucose challenge test at 26 weeks gestation and health professionals (266 midwives and 34 obstetricians) at the Royal Women's Hospital, Melbourne, between 13 December 2002 and 30 April 2003. Outcome measures:, The relative value participants attach to attributes of Down syndrome screening tests as determined by conjoint analysis and ranking scales. Results:, Women and health professionals shared similar relative values regarding the importance of detection rate of screening tests, according to coefficients from conjoint analysis models. However, health professionals placed higher relative values on timing of prenatal tests and risk associated with the subsequent diagnostic test than did women. Comparison of coefficients suggests that, compared with health professionals, women would wait longer and accept a greater decrease in detection rate for a test if it was safer. Using the more traditional ranking scale, the safest test was ranked first by 56% of women while 47% of health professionals ranked a test with the highest detection rate first. Equal proportions (,10%) in both groups ranked the earliest test first. Conclusion:, There is a general agreement between pregnant women and health professionals regarding the relative importance they attach to different attributes of a test. However, health professionals appeared to favour earlier timing of tests while women placed greater emphasis on safety. Utilising two different measures of preference demonstrated the complexity of decision-making. [source] Single nucleotide polymorphisms of the factor IX gene for linkage analysis in the southern Chinese populationBRITISH JOURNAL OF HAEMATOLOGY, Issue 2 2000Vivian Chan Carrier detection and prenatal testing for haemophilia B in Oriental populations have been hampered by the lack of informative markers within the factor IX (FIX) gene. We detected a T/C nucleotide variation at nucleotide 32770 in the poly-A region of the FIX gene in the mother of a haemophilia B child. Analysis of 139 unrelated alleles revealed a heterozygosity rate of 0·193, thus offering an additional marker for linkage analysis. Together with two other polymorphic sites (5,MseI and 3,HhaI) found in Chinese and Thai populations, these polymorphisms were useful in 66% of the families studied. [source] Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinomaCANCER, Issue 1 2010Robert R. McWilliams MD Abstract BACKGROUND: Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are common in white persons and are associated with pancreatic disease. The purpose of this case-control study was to determine whether CFTR mutations confer a higher risk of pancreatic cancer. METHODS: In a case-control study, the authors compared the rates of 39 common cystic fibrosis-associated CFTR mutations between 949 white patients with pancreatic adenocarcinoma and 13,340 white controls from a clinical laboratory database for prenatal testing for CFTR mutations. The main outcome measure was the CFTR mutation frequency in patients and controls. RESULTS: Overall, 50 (5.3%) of 949 patients with pancreatic cancer carried a common CFTR mutation versus 510 (3.8%) of 13,340 controls (odds ratio [OR], 1.40; 95% confidence interval [CI], 1.04-1.89; P = .027). Among patients who were younger when their disease was diagnosed (<60 years), the carrier frequency was higher than in controls (OR, 1.82; 95% CI, 1.14-2.94; P = .011). In patient-only analyses, the presence of a mutation was associated with younger age (median 62 vs 67 years; P = .034). In subgroups, the difference was seen only among ever-smokers (60 vs 65 years, P = .028). Subsequent sequencing analysis of the CFTR gene detected 8 (16%) compound heterozygotes among the 50 patients initially detected to have 1 mutation. CONCLUSIONS: Carrying a disease-associated mutation in CFTR is associated with a modest increase in risk for pancreatic cancer. Those affected appear to be diagnosed at a younger age, especially among smokers. Clinical evidence of antecedent pancreatitis was uncommon among both carriers and noncarriers of CFTR mutations. Cancer 2010. © 2010 American Cancer Society. [source] Psychological aspects of pre-symptomatic testing for Machado,Joseph disease and familial amyloid polyneuropathy type ICLINICAL GENETICS, Issue 4 2006L Rolim Machado,Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. MJD and FAP-I are late-onset diseases, with symptoms emerging usually during adulthood. CGPP, which is the national reference centre for these disorders, has a genetic lab that offers diagnostic, pre-symptomatic and prenatal testing and an outpatient clinic to counsel and follow relatives at risk for hereditary ataxias, FAP-I and Huntington disease (HD). The present work is a review of our 10-year experience with psychological counselling of individuals at risk for MJD and FAP-I. Persons at risk for FAP-I may show a better response to pre-symptomatic testing than those who are at risk for MJD and HD because of the availability of liver transplantation, which may improve their health and life expectancy. Psychological well-being and specific distress of MJD and FAP-I test applicants, before undergoing genetic testing (baseline level) and 3 to 6 months after disclosure of test results, have shown a low level of change, both in identified carriers and non-carriers. A major goal of psychological characterization of at-risk individuals for MJD and FAP-I is to determine the factors that influence the uptake of genetic testing. [source] | ||||||||||||||||