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Serum Screening (serum + screening)
Selected AbstractsCurrent awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 9 2009Article first published online: 28 AUG 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 21 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Preimplantation Genetic Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Imaging: General; Ultrasound; MRI; 8 Maternal Serum Screening for Aneuploidy; 9 Screening for Carriers of Genetic Abnormality; 10 Molecular Cytogenetics: Metaphase Cytogenetics/FISH; Array CGH; 11 Fetal Cells in Maternal Circulation; 12 Fetal DNA/RNA in Maternal Body Fluids; 13 Fetal Therapy; 14 Psychosocial and Ethical Aspects; 15 Epidemiology and Environmental Factors; 16 Developmental and Placental Pathology; 17 Genetic Counseling. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 4 2009Article first published online: 30 MAR 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 20 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Preimplantation Genetic Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Imaging: General; Ultrasound; MRI; 8 Maternal Serum Screening for Aneuploidy; 9 Screening for Carriers of Genetic Abnormality; 10 Molecular Cytogenetics: Metaphase Cytogenetics/FISH; Array cGH; 11 Fetal Cells in Maternal Circulation; 12 Fetal DNA/RNA in Maternal Body Fluids; 13 Fetal Therapy; 14 Psychosocial and Ethical Aspects; 15 Epidemiology and Environmental Factors; 16 Developmental and Placental Pathology; 17 Genetic Counseling. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 3 2009Article first published online: 26 FEB 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 20 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Preimplantation Genetic Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Imaging: General; Ultrasound; MRI; 8 Maternal Serum Screening for Aneuploidy; 9 Screening for Carriers of Genetic Abnormality; 10 Molecular Cytogenetics: Metaphase Cytogenetics/FISH; Array cGH; 11 Fetal Cells in Maternal Circulation; 12 Fetal DNA/RNA in Maternal Body Fluids; 13 Fetal Therapy; 14 Psychosocial and Ethical Aspects; 15 Epidemiology and Environmental Factors; 16 Developmental and Placental Pathology; 17 Genetic Counseling. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Exploring the perspective of midwives involved in offering serum screening for Down's syndrome in Northern IrelandJOURNAL OF CLINICAL NURSING, Issue 20 2009Jennifer McNeill Aims., To explore the perspective of midwives offering serum screening for Down's syndrome. Background., Previous literature has indicated that the offer and discussion of prenatal serum screening tests with women is complex, and health professionals may influence women's decisions to accept or decline screening. Midwives are usually the key professional to offer serum screening for Down's syndrome in the UK but their perspective is relatively neglected in the literature. Design., An explorative qualitative interview study with 15 midwives employed in a maternity unit in Northern Ireland involved in offering prenatal screening to pregnant women. Data were collected from 1 July 2005,31 October 2005. Methods., A focused ethnographic approach was used to explore the perspective of midwives. Results., Midwives reported difficulty in explaining the test to women and felt unable to provide the necessary information to adequately inform women within their appointment time. The test offered (the triple test) and potential pathway of subsequent care, were identified as sources of professional and personal conflict by midwives. The expectation that midwives would provide a universal offer of Down's syndrome serum screening but be unable to support women regarding termination of pregnancy also created dissonance. Conclusions., The feasibility of proceeding with a universal serum screening programme for Down's syndrome is questionable in countries which legally or culturally oppose termination of pregnancy. Professionals practising within environments such as this experience conflict in their role, which affects communication with women when discussing screening tests. Relevance to clinical practice., As midwives are often, the primary health professional providing information to women, it is important that midwives are key participants in ongoing planning and discussions about screening policy to ensure programmes are implemented successfully. [source] Trends in prenatal screening and diagnostic testing among women referred for advanced maternal agePRENATAL DIAGNOSIS, Issue 3 2010Naomi 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] How important is consent in maternal serum screening for Down syndrome in France?PRENATAL DIAGNOSIS, Issue 3 2007Information, consent evaluation in maternal serum screening for Down syndrome: a French study Abstract Objectives To evaluate the level of information and informed consent for maternal serum screening (MSS) for Down syndrome (DS) in the second trimester of pregnancy and analyse the exercise of autonomy towards the test by the women concerned. Methods We studied the population of pregnant women attending obstetric consultations in two French hospitals over a 3-month period. The women were assigned to three groups according to MSS results for DS: women at high risk of having a child with DS (group 1), women at low risk (group 2) and women who did not undergo the test (group 3). A questionnaire was completed before the medical consultation, to assess the quality of consent before amniocentesis for the group at high risk and before the second-trimester ultrasound scan for the other two groups. Results We analysed 305 questionnaires for 89, 137 and 79 women belonging to groups 1, 2 and 3 respectively. In total, 123 women (40.3% [IC 95%, 35,46%]) were considered to be well informed; 33 (10%, [IC 95%, 8,12%]) had a high level of knowledge, but made choices not consistent with their stated attitude, and 149 (49.7% [IC 95%, 45,56%]) were considered uninformed. Logistic regression analysis showed that maternal consent depended on three independent components: The score attributed to the doctor for information about MSS (t = 4.216, p < 0.001). Whether the patient belonged to group 1 (t = ,2.631, p < 0.009). Educational level (< high-school diploma, high-school diploma or at least two years of higher education after high school) (t = 2.324, p < 0.02). The rate of consent increased with educational level and was highest for the women in group 1 and for those whose doctor had a high information score. Conclusions Our findings clearly show that women are provided with insufficient information concerning MSS screening for DS in the second trimester of pregnancy for real and valid consent to be obtained. Copyright © 2007 John Wiley & Sons, Ltd. [source] Population screening for fetal trisomy 21: easy access to screening should be balanced against a uniform ultrasound protocolPRENATAL DIAGNOSIS, Issue 11 2005Wilfried J. A. Gyselaers Abstract Objectives To evaluate the performance of a first-trimester fetal aneuploidy screening program, with a documented underestimation of nuchal translucency thickness measurements (NT) compared to the Fetal Medicine Foundation (FMF) reference range. Methods We analysed the data of Algemeen Medisch Laboratorium (AML) in Antwerp, Belgium, on combined screening with pregnancy-associated plasma protein-A (PAPP-A), free ,-human chorionic gonadotropin (FB-hCG) and NT. NT-multiples of the median (MoM), relative to the FMF reference range, were used for risk calculations. Results The proportion of first-trimester screening tests in the total of serum screening tests increased from 1.3% (125/9424) in 2000 to 53.1% (6577/12 377) in 2003. Only 11.4% (1514/13 267) of NT measurements were performed according to FMF criteria. The 80.8% (21/26) trisomy 21 (T21) detection rate (DR) at cut off 1:300 resulted from maternal serum screening. NT measurements did not add to this DR, but reduced the false-positive rate from 16.8% (2212/13181) to 8.6% (1130/13181). Only 23.8% (5/21) of T21 detections were by FMF trainees. Conclusion Easy access to screening and maternal serum parameters accounted for the majority of T21 detections in our first-trimester combined screening program. Copyright © 2005 John Wiley & Sons, Ltd. [source] Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women's reasonsPRENATAL DIAGNOSIS, Issue 1 2005Matthijs van den Berg Abstract Objectives Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give more insight into the decision for or against prenatal screening through nuchal translucency measurement or maternal serum screening. Patients and Methods The study is part of a randomized controlled trial with two groups, each being offered a different prenatal screening test, and a control group. Pregnant women received postal questionnaires at three stages of their pregnancy. Results Of the women being offered the nuchal translucency measurement or the second trimester maternal serum test, 53 and 38% respectively accepted the test offer. The main reasons for accepting were ,gaining knowledge about the health of the foetus/curiosity' (50%), ,favourable characteristics of the screening test' (18%), and ,increased risk of having a child with DS' (15%). The main reasons for declining were ,unfavourable characteristics of the screening test' (42%), ,not applicable/not necessary' (35%), ,anxiety/uncertainty' (36%), ,adverse characteristics of the invasive tests' (32%), and ,being against abortion' (15%). Discussion The uptake of prenatal screening was relatively low, and different distributions of reasons were reported, compared to other studies. These differences may be due to the specific Dutch situation in which prenatal screening is not part of standard prenatal care. The question arises as to whether informed decision-making would be reduced if prenatal screening became routinised. Copyright © 2005 John Wiley & Sons, Ltd. [source] Second trimester trisomy 21 maternal serum marker screening.PRENATAL DIAGNOSIS, Issue 10 2002Results of a countrywide study of 854 902 patients Abstract Objectives In France, maternal serum marker screening is governed by specific legislation. We conducted a study of the countrywide trisomy 21 screening based on second trimester maternal serum markers. Methods We reviewed the medical records of 854 902 patients prospectively screened for second trimester maternal serum markers in the 60 authorised laboratories over the two-year period 1997,1998. All patients screened in France were included. The risk of trisomy 21 was calculated from the combination of maternal age and maternal serum markers. The same cut-off (1/250) was used in all laboratories. Results In 1998, 65% of pregnant women underwent maternal serum screening. In the 837 765 patients under 38 years of age who were screened, 54 321 (6.48%; 5% CI 6.42,6.53%) had a calculated risk >1/250. Of the 884 Down syndrome cases observed, 626 were detected by maternal serum markers (70.8%; 5% CI 67.8,73.8%). These good results can be explained by a strict quality control of all steps. For the 13 891 patients over 38 years of age, the Down syndrome detection rate was 98.9% for a 34% false-positive rate. Conclusions Strict rules covering prenatal trisomy 21 screening are of benefit to patients, practitioners and laboratories alike, and ensure good quality control, a high trisomy 21 detection rate and a low amniocentesis rate. Copyright © 2002 John Wiley & Sons, Ltd. [source] Prenatal detection of structural abnormalities of chromosome 18: associations with interphase fluorescence in situ hybridization (FISH) and maternal serum screeningPRENATAL DIAGNOSIS, Issue 8 2002Michael D. Graf Abstract We describe two cases of prenatally ascertained isochromosome 18. Case 1 included both an isochromosome 18p and an isochromosome 18q, while Case 2 involved only an isochromosome 18q. Both of these cases were associated with a positive maternal serum triple screen trisomy 18 risk (greater than 1 in 100 risk). In addition, fluorescence in situ hybridization (FISH) was performed on uncultured amniotic fluid interphase cells in both cases looking for aneuploidy for chromosomes 13, 18, 21, X and Y. The results of the interphase analyses support the common knowledge that careful interpretation of interphase FISH analysis is necessary and that results should be followed by full cytogenetic analysis. To our knowledge these are the first reported cases of structurally abnormal chromosomes 18 being associated with a positive maternal serum triple screen for trisomy 18. Copyright © 2002 John Wiley & Sons, Ltd. [source] Comparison and integration of first trimester fetal nuchal translucency and second trimester maternal serum screening for fetal Down syndromePRENATAL DIAGNOSIS, Issue 8 2002Yung Hang Lam Abstract Background It is uncertain whether first trimester nuchal translucency (NT) is more effective than the well-established second trimester serum screening for fetal Down syndrome or whether their combination works best. We report data from a large multicentre non-interventional trial in which all subjects underwent both first and second trimester screening. Methods All women who attended the obstetric clinic before 15,weeks' gestation were recruited. An ultrasound examination was performed at 10 to 14,weeks to measure the NT. The nuchal measurements were not acted upon unless the fetus showed gross features of hydrops fetalis. All women had serum alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) assay at 15 to 20,weeks. The Down syndrome risk assigned by serum screening was disclosed and amniocentesis was offered if this assigned risk was ,1:250 or if the women were 35,years and older. The efficacy of different combinations of screening markers was compared. Results Between January 1997 and August 2000, 17 590 women were recruited (19% ,35,years old). After excluding subjects who miscarried, defaulted the serum test and other reasons, 16 237 pregnancies were analysed. Of these, 35 pregnancies were affected by Down syndrome (2.2 cases per 1000 pregnancies). At a false-positive rate of 5%, the detection rate of Down syndrome by NT alone, NT and age, serum hCG, AFP and age, and NT, hCG, AFP and age were 61%, 69%, 73% and 86%, respectively. Conclusion Integration of NT and second trimester serum AFP and hCG assay yielded the best screening efficacy for Down syndrome. Copyright © 2002 John Wiley & Sons, Ltd. [source] Descriptive information about Down syndrome: a content analysis of serum screening leafletsPRENATAL DIAGNOSIS, Issue 12 2001Louise D. Bryant Abstract It is recommended practice that prior to prenatal screening, women receive information about the condition(s) being tested for. The present study critically evaluated information about Down syndrome as contained in 80 leaflets provided to pregnant women in the UK prior to serum screening. First, a content analysis by information type was conducted to give an overall picture of the material provided. Second, the image of the condition as conveyed by the content was analysed and compared with a similar study of cystic fibrosis (CF) screening leaflets. The majority of information (89%) was of a medico-clinical nature, with 11% addressing other issues associated with Down syndrome. The median number of sentences describing the condition was one, with 33% of the leaflets containing no descriptive information. Overall, a negative image of Down syndrome was conveyed by the leaflets, which contrasted with a more neutral image of CF in the comparison study. In order to facilitate informed choices, more attention should be paid to providing women with information about Down syndrome prior to serum screening. Such information needs to be more balanced in its construction, with thought given to the needs of the reader, and to the tone and the content of the message conveyed. Copyright © 2001 John Wiley & Sons, Ltd. [source] The future of prenatal diagnosis: rapid testing or full karyotype?BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 10 2005An audit of chromosome abnormalities, pregnancy outcomes for women referred for Down's Syndrome testing Objective To assess the implications of a change in prenatal diagnosis policy from full karyotype analysis to rapid trisomy testing for women referred primarily for increased risk of Down's Syndrome. Design Retrospective collection and review of data. Setting The four London Regional Genetics Centres. Population Pregnant women (32,674) in the London area having invasive prenatal diagnosis during a six-year three-month period. Methods Abnormal karyotypes and total number of samples referred for raised maternal age, raised risk of Down's Syndrome following serum screening or maternal anxiety were collected. Abnormal karyotypes detected by molecular trisomy detection were removed, leaving cases with residual abnormal karyotypes. These were assessed for their clinical significance. Pregnancy outcomes were ascertained by reviewing patient notes or by contacting obstetricians or general practioners. Main outcome measures Proportion of prenatal samples with abnormal karyotypes that would not have been detected by rapid trisomy testing, and the outcome of those pregnancies with abnormal karyotypes. Results Results from 32,674 samples were identified, of which 24,891 (76.2%) were from women referred primarily for Down's Syndrome testing. There were 118/24,891 (0.47%) abnormal sex chromosome karyotypes. Of the samples with autosomal abnormalities that would not be detected by rapid trisomy testing, 153/24,891 (0.61%) were in pregnancies referred primarily for Down's Syndrome testing. Of these, 98 (0.39%) had a good prognosis (46/98 liveborn, 3/98 terminations, 1/98 intrauterine death, 1/98 miscarriage, 47/98 not ascertained); 37 (0.15%) had an uncertain prognosis (20/37 liveborn, 5/37 terminations; 12/37 not ascertained) and 18 (0.07%) had a poor prognosis (1/18 liveborn, 2/18 miscarriage, 11/18 terminations, 4/18 not ascertained). Conclusions For pregnant women with a raised risk of Down's Syndrome, a change of policy from full karyotype analysis to rapid trisomy testing would result in the failure to detect chromosome abnormalities likely to have serious clinical significance in approximately 0.06% (1 in 1659) cases. However, it should be noted that this figure may be higher (up to 0.12%; 1 in 833) if there were fetal abnormalities in some of the pregnancies in the uncertain prognosis group for which outcome information was not available. [source] | ||||||||||