Invasive Testing (invasive + testing)

Distribution by Scientific Domains

Selected Abstracts

Invasive testing for the karyotyping of mid-trimester intrauterine fetal death (IUFD): a pilot study

E. S. Howarth
Abstract Introduction Aneuploidy remains a common cause of fetal loss after the first trimester. Conventional karyotyping from fetal solid tissues post-delivery unfortunately has a poor success rate particularly where the fetus is macerated. To overcome this we obtained amniocentesis and/or chorionic villus samples from mid-trimester intrauterine fetal deaths (IUFDs) prior to medical termination of pregnancy. Subjects Ten women with diagnosed IUFD between 12 and 24,weeks' gestation underwent amniocentesis and/or CVS performed after counselling. Results Successful karyotypes were obtained in all pregnancies. Five of the ten pregnancies were complicated by aneuploidy (two with trisomy 21, two with trisomy 18, and one with trisomy 13). Conclusion The high rate of aneuploidy (50%) in this small cohort emphasises the need for karyotyping. A successful karyotype in all ten pregnancies demonstrates the value of offering these procedures before a termination of pregnancy. We would recommend the adoption of this approach in the management of IUFD occurring after the first trimester. Copyright 2002 John Wiley & Sons, Ltd. [source]

The Impact of Race on the Acute Management of Chest Pain

Arvind Venkat MD
Abstract Objectives: African Americans with acute coronary syndromes receive cardiac catheterization less frequently than whites. The objective was to determine if such disparities extend to acute evaluation and noninterventional treatment. Methods: Data on adults with chest pain (N= 7,935) presenting to eight emergency departments (EDs) were evaluated from the Internet Tracking Registry of Acute Coronary Syndromes. Groups were selected from final ED diagnosis: 1) acute myocardial infarction (AMI), n= 400; 2) unstable angina/non,ST-elevation myocardial infarction (UA/NSTEMI), n= 1,153; and 3) nonacute coronary syndrome chest pain (non-ACS CP), n= 6,382. American College of Cardiology/American Heart Association guidelines for AMI and UA/NSTEMI were used to evaluate racial disparities with logistic regression models. Odds ratios (ORs) were adjusted for age, gender, guideline publication, and insurance status. Non-ACS CP patients were assessed by comparing electrocardiographic (ECG)/laboratory evaluation, medical treatment, admission rates, and invasive and noninvasive testing for coronary artery disease (CAD). Results: African Americans with UA/NSTEMI received glycoprotein IIb/IIIa receptor inhibitors less often than whites (OR, 0.41; 95% CI = 0.19 to 0.91). African Americans with non-ACS CP underwent ECG/laboratory evaluation, medical treatment, and invasive and noninvasive testing for CAD less often than whites (p < 0.05). Other nonwhites with non-ACS CP were admitted and received invasive testing for CAD less often than whites (p < 0.01). African Americans and other nonwhites with AMI underwent catheterization less frequently than whites (OR, 0.45; 95% CI = 0.29 to 0.71 and OR, 0.40; 95% CI = 0.17 to 0.92, respectively). A similar disparity in catheterization was noted in UA/NSTEMI therapy (OR, 0.53; 95% CI = 0.40 to 0.68 and OR, 0.68; 95% CI = 0.47 to 0.99). Conclusions: Racial disparities in acute chest pain management extend beyond cardiac catheterization. Poor compliance with recommended treatments for ACS may be an explanation. [source]

Down syndrome screening using first-trimester combined tests and contingent use of femur length at routine anomaly scan

Laurent J. Salomon
Abstract Objective The objective of this study was to evaluate the performance of the contingent use of femur length (FL) at routine mid-trimester scan in screening for Down syndrome (DS) in women having previously undergone first-trimester screening with disclosure of risk estimates. Methods Data from a prospective screening trial for DS in a population of 21 492 women with 80 observed DS were used. The performance of a contingent screening strategy based on adding short FL (FL < 5th percentile) as a soft marker in women at intermediate first-trimester risks was evaluated through simulated data. Results In our population, the median (25th,75th percentile) maternal age was 30.7 years (28.0,33.9; range: 18.0,46.3). The median (25th,75th percentile) gestational age at ultrasound examination was 12 weeks 3 days (12 weeks and 12 weeks 6 days; range: 11 weeks to 13 weeks 6 days). Contingent screening allowed an improvement in screening performance. For example, using a first-trimester risk cut-off of 1/100 and an intermediate-risk population within (1/1000, 1/100) for the search of FL, a sensitivity (Se) of 88.4% at a 3% false-positive rate (FPR) was reached. With a cut-off of 1/200 and an intermediate-risk population within (1/1000, 1/200), screening would allow an Se of 92.3% at a 4% FPR. Conclusions Contingent screening could be used following first-trimester combined screening followed by second-trimester ultrasound soft markers. This could identify indications for early invasive testing in the highest risk cases and would allow efficient and simple ultrasound-based screening in the second trimester. This would provide an 88.4% Se for a 3% FPR, at no additional cost as compared to first-trimester combined screening and routine mid-trimester scan. Copyright 2010 John Wiley & Sons, Ltd. [source]

Invasive prenatal testing decisions in pregnancy after infertility,

Colleen 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]

Trends in prenatal screening and diagnostic testing among women referred for advanced maternal age

Naomi Nakata
Abstract Objective We evaluated the trends in uptake of amniocentesis and chorionic villi sampling (CVS) for prenatal diagnosis compared with uptake of first and second trimester prenatal serum screening for Down syndrome among patients referred for genetic counseling for advanced maternal age (AMA). Methods Patients referred for AMA genetic counseling from 2001 through 2008 were informed of both prenatal serum screening and invasive diagnostic testing options. Testing offered and testing decisions were entered in a computer database and uptake rates calculated for each year with trends compared using logistic regression analysis. Results From 2001 through 2007, we observed a decline in amniocentesis and CVS uptake (p = 0.0001). This trend reversed in 2008 for both invasive procedures (p = 0.0001). Uptake of prenatal serum screening increased over the study period with uptake of first trimester screening increasing 1.7 fold in 2008. Conclusion Improved prenatal screening tests and increased availability of screening for AMA patients has led to a steady decline in uptake of invasive testing from 2001 through 2007. This trend reversed from 2007 through 2008. Possible reasons for this reversal are discussed. Copyright 2010 John Wiley & Sons, Ltd. [source]

Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy

Jon 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]

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

Andrea 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]

Brief communication: Minimally invasive bone sampling method for DNA analysis

Victoria E. Gibbon
Abstract Obtaining a bone sample for DNA analysis has traditionally been a destructive practice, which has resulted in reluctance on behalf of curators for skeletal collections to allow invasive testing. A novel minimally invasive bone sampling method for DNA analysis is presented here. This method uses a conventional hand drill wherein the bone sample is extracted from the intercondylar fossa of the femur; it does not interfere with any known anthropometric landmarks and only leaves a small hole on the surface of the bone. The temperature of the drill is documented and it was established due to the minor increase in temperature, that this should not affect the molecular integrity of the sample. This method is easily replicated and is suitable for both human and other animal skeletal material and can be applied to rare specimens with little risk. Am J Phys Anthropol, 2009. 2009 Wiley-Liss, Inc. [source]