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Sample records for noninvasive prenatal detection

  1. Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.

    Science.gov (United States)

    Bianchi, Diana W; Chudova, Darya; Sehnert, Amy J; Bhatt, Sucheta; Murray, Kathryn; Prosen, Tracy L; Garber, Judy E; Wilkins-Haug, Louise; Vora, Neeta L; Warsof, Stephen; Goldberg, James; Ziainia, Tina; Halks-Miller, Meredith

    2015-07-14

    Understanding the relationship between aneuploidy detection on noninvasive prenatal testing (NIPT) and occult maternal malignancies may explain results that are discordant with the fetal karyotype and improve maternal clinical care. To evaluate massively parallel sequencing data for patterns of copy-number variations that might prospectively identify occult maternal malignancies. Case series identified from 125,426 samples submitted between February 15, 2012, and September 30, 2014, from asymptomatic pregnant women who underwent plasma cell-free DNA sequencing for clinical prenatal aneuploidy screening. Analyses were conducted in a clinical laboratory that performs DNA sequencing. Among the clinical samples, abnormal results were detected in 3757 (3%); these were reported to the ordering physician with recommendations for further evaluation. NIPT for fetal aneuploidy screening (chromosomes 13, 18, 21, X, and Y). Detailed genome-wide bioinformatics analysis was performed on available sequencing data from 8 of 10 women with known cancers. Genome-wide copy-number changes in the original NIPT samples and in subsequent serial samples from individual patients when available are reported. Copy-number changes detected in NIPT sequencing data in the known cancer cases were compared with the types of aneuploidies detected in the overall cohort. From a cohort of 125,426 NIPT results, 3757 (3%) were positive for 1 or more aneuploidies involving chromosomes 13, 18, 21, X, or Y. From this set of 3757 samples, 10 cases of maternal cancer were identified. Detailed clinical and sequencing data were obtained in 8. Maternal cancers most frequently occurred with the rare NIPT finding of more than 1 aneuploidy detected (7 known cancers among 39 cases of multiple aneuploidies by NIPT, 18% [95% CI, 7.5%-33.5%]). All 8 cases that underwent further bioinformatics analysis showed unique patterns of nonspecific copy-number gains and losses across multiple chromosomes. In 1 case, blood was

  2. Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma.

    Science.gov (United States)

    Lim, Ji Hyae; Kim, Mee Jin; Kim, Shin Young; Kim, Hye Ok; Song, Mee Jin; Kim, Min Hyoung; Park, So Yeon; Yang, Jae Hyug; Ryu, Hyun Mee

    2011-02-01

    To perform a reliable non-invasive detection of the fetal achondroplasia using maternal plasma. We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia. This method was applied in a non-invasive detection of the fetal achondroplasia using circulating fetal-DNA (cf-DNA) in maternal plasma. Maternal plasmas were obtained at 27 weeks of gestational age from women carrying an achondroplasia fetus or a normal fetus. Two percent or less achondroplasia DNA was reliably detected by QF-PCR. In a woman carrying a normal fetus, analysis of cf-DNA showed only one peak of the wild-type G allele. In a woman expected an achondroplasia fetus, analysis of cf-DNA showed the two peaks of wild-type G allele and mutant-type A allele and accurately detected the fetal achondroplasia. The non-invasive method using maternal plasma and QF-PCR may be useful for diagnosis of the fetal achondroplasia.

  3. Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility Study.

    Science.gov (United States)

    Xi, Yanwei; Arbabi, Aryan; McNaughton, Amy J M; Hamilton, Alison; Hull, Danna; Perras, Helene; Chiu, Tillie; Morrison, Shawna; Goldsmith, Claire; Creede, Emilie; Anger, Gregory J; Honeywell, Christina; Cloutier, Mireille; Macchio, Natasha; Kiss, Courtney; Liu, Xudong; Crocker, Susan; Davies, Gregory A; Brudno, Michael; Armour, Christine M

    2017-01-01

    To develop an alternate noninvasive prenatal testing method for the assessment of trisomy 21 (T21) using a targeted semiconductor sequencing approach. A customized AmpliSeq panel was designed with 1,067 primer pairs targeting specific regions on chromosomes 21, 18, 13, and others. A total of 235 samples, including 30 affected with T21, were sequenced with an Ion Torrent Proton sequencer, and a method was developed for assessing the probability of fetal aneuploidy via derivation of a risk score. Application of the derived risk score yields a bimodal distribution, with the affected samples clustering near 1.0 and the unaffected near 0. For a risk score cutoff of 0.345, above which all would be considered at "high risk," all 30 T21-positive pregnancies were correctly predicted to be affected, and 199 of the 205 non-T21 samples were correctly predicted. The average hands-on time spent on library preparation and sequencing was 19 h in total, and the average number of reads of sequence obtained was 3.75 million per sample. With the described targeted sequencing approach on the semiconductor platform using a custom-designed library and a probabilistic statistical approach, we have demonstrated the feasibility of an alternate method of assessment for fetal T21. © 2017 S. Karger AG, Basel.

  4. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

    Science.gov (United States)

    Hill, Melissa; Twiss, Philip; Verhoef, Talitha I; Drury, Suzanne; McKay, Fiona; Mason, Sarah; Jenkins, Lucy; Morris, Stephen; Chitty, Lyn S

    2015-10-01

    We aim to develop non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation. A next-generation sequencing assay was developed to detect ten common CF mutations for exclusion of the paternal mutation in maternal plasma. Using uptake data from a study exploring views on NIPD for CF, total test-related costs were estimated for the current care pathway and compared with those incorporating NIPD. The assay reliably predicted mutation status in all control and maternal plasma samples. Of carrier or affected adults with CF (n = 142) surveyed, only 43.5% reported willingness to have invasive testing for CF with 94.4% saying they would have NIPD. Using these potential uptake data, the incremental costs of NIPD over invasive testing per 100 pregnancies at risk of CF are £9025 for paternal mutation exclusion, and £26,510 for direct diagnosis. We have developed NIPD for risk stratification in around a third of CF families. There are economic implications due to potential increased test demand to inform postnatal management rather than to inform decisions around termination of an affected pregnancy. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

  5. Non-invasive prenatal detection of trisomy 21 using tandem single nucleotide polymorphisms.

    Directory of Open Access Journals (Sweden)

    Sujana Ghanta

    Full Text Available BACKGROUND: Screening tests for Trisomy 21 (T21, also known as Down syndrome, are routinely performed for the majority of pregnant women. However, current tests rely on either evaluating non-specific markers, which lead to false negative and false positive results, or on invasive tests, which while highly accurate, are expensive and carry a risk of fetal loss. We outline a novel, rapid, highly sensitive, and targeted approach to non-invasively detect fetal T21 using maternal plasma DNA. METHODS AND FINDINGS: Highly heterozygous tandem Single Nucleotide Polymorphism (SNP sequences on chromosome 21 were analyzed using High-Fidelity PCR and Cycling Temperature Capillary Electrophoresis (CTCE. This approach was used to blindly analyze plasma DNA obtained from peripheral blood from 40 high risk pregnant women, in adherence to a Medical College of Wisconsin Institutional Review Board approved protocol. Tandem SNP sequences were informative when the mother was heterozygous and a third paternal haplotype was present, permitting a quantitative comparison between the maternally inherited haplotype and the paternally inherited haplotype to infer fetal chromosomal dosage by calculating a Haplotype Ratio (HR. 27 subjects were assessable; 13 subjects were not informative due to either low DNA yield or were not informative at the tandem SNP sequences examined. All results were confirmed by a procedure (amniocentesis/CVS or at postnatal follow-up. Twenty subjects were identified as carrying a disomy 21 fetus (with two copies of chromosome 21 and seven subjects were identified as carrying a T21 fetus. The sensitivity and the specificity of the assay was 100% when HR values lying between 3/5 and 5/3 were used as a threshold for normal subjects. CONCLUSIONS: In summary, a targeted approach, based on calculation of Haplotype Ratios from tandem SNP sequences combined with a sensitive and quantitative DNA measurement technology can be used to accurately detect fetal

  6. Noninvasive prenatal testing: the future is now.

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    Norwitz, Errol R; Levy, Brynn

    2013-01-01

    Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incidence of aneuploid children born to older mothers.4 Although younger women have relatively low risks of conceiving a child with aneuploidy, the majority of pregnant women are in their late teens, 20s, and early 30s. As such, most viable aneuploid babies are born to these younger mothers.5 Invasive prenatal diagnosis (CVS and amniocentesis) is not a feasible option for all low-risk mothers, as these procedures carry a small but finite risk and would ultimately cause more miscarriages than they would detect aneuploidy. For this reason, a number of noninvasive tests have been developed-including first-trimester risk assessment at 11 to 14 weeks, maternal serum analyte (quad) screening at 15 to 20 weeks, and sonographic fetal structural survey at 18 to 22 weeks-all of which are designed to give a woman an adjusted (more accurate) estimate of having an aneuploid fetus using as baseline her a priori age-related risk. Ultrasound and maternal serum analysis are considered screening procedures and both require follow up by CVS or amniocentesis in screen-positive cases for a definitive diagnosis of a chromosome abnormality in the fetus. The ability to isolate fetal cells and fetal DNA from maternal blood during pregnancy has opened up exciting opportunities for improved noninvasive prenatal testing (NIPT). Direct analysis of fetal cells from maternal circulation has been challenging given the scarcity of fetal cells in maternal blood (1:10,000-1:1,000,000) and the focus has shifted to the analysis of cell-free fetal DNA, which is found at a concentration almost 25 times higher than that

  7. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

    Science.gov (United States)

    Badeau, Mylène; Lindsay, Carmen; Blais, Jonatan; Nshimyumukiza, Leon; Takwoingi, Yemisi; Langlois, Sylvie; Légaré, France; Giguère, Yves; Turgeon, Alexis F; Witteman, William; Rousseau, François

    2017-11-10

    pooled analyses (246 T21 cases, 112 T18 cases, 20 T13 cases and 4282 unaffected pregnancies), the clinical sensitivity (95% CI) of TMPS was 99.2% (96.8% to 99.8%), 98.2% (93.1% to 99.6%), 100% (83.9% to 100%) and 92.4% (84.1% to 96.5%) for T21, T18, T13 and 45,X respectively. The clinical specificities were above 100% for T21, T18 and T13 and 99.8% (98.3% to 100%) for 45,X. Indirect comparisons of MPSS and TMPS for T21, T18 and 45,X showed no statistical difference in clinical sensitivity, clinical specificity or both. Due to limited data, comparative meta-analysis of MPSS and TMPS was not possible for T13.We were unable to perform meta-analyses of gNIPT for 47,XXX, 47,XXY and 47,XYY because there were very few or no studies in one or more risk groups. These results show that MPSS and TMPS perform similarly in terms of clinical sensitivity and specificity for the detection of fetal T31, T18, T13 and sex chromosome aneuploidy (SCA). However, no study compared the two approaches head-to-head in the same cohort of patients. The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies (T21, T18 and T13), thus avoiding invasive procedures. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high-risk populations. There is paucity of data on the accuracy of gNIPT as a first-tier aneuploidy screening test in a population of unselected pregnant women. With respect to the replacement of invasive tests, the performance of gNIPT observed in this review is not sufficient to replace current invasive diagnostic tests.We conclude that given the current data on the performance of gNIPT, invasive fetal karyotyping is still the required diagnostic approach to confirm the presence of a chromosomal abnormality prior to making irreversible decisions relative to the pregnancy outcome

  8. Noninvasive prenatal diagnosis for single gene disorders.

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    Allen, Stephanie; Young, Elizabeth; Bowns, Benjamin

    2017-04-01

    Noninvasive prenatal diagnosis for single gene disorders is coming to fruition in its clinical utility. The presence of cell-free DNA in maternal plasma has been recognized for many years, and a number of applications have developed from this. Noninvasive prenatal diagnosis for single gene disorders has lagged behind due to complexities of technology development, lack of investment and the need for validation samples for rare disorders. Publications are emerging demonstrating a variety of technical approaches and feasibility of clinical application. Techniques for analysis of cell-free DNA including digital PCR, next-generation sequencing and relative haplotype dosage have been used most often for assay development. Analysis of circulating fetal cells in the maternal blood is still being investigated as a viable alternative and more recently transcervical trophoblast cells. Studies exploring ethical and social issues are generally positive but raise concerns around the routinization of prenatal testing. Further work is necessary to make testing available to all patients with a pregnancy at risk of a single gene disorder, and it remains to be seen if the development of more powerful technologies such as isolation and analysis of single cells will shift the emphasis of noninvasive prenatal diagnosis. As testing becomes possible for a wider range of conditions, more ethical questions will become relevant.

  9. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    NARCIS (Netherlands)

    Chen, E.Z.; Chiu, R.W.; Sun, H; Akolekar, R.; Chan, K.C.; Leung, T.Y.; Jiang, P.; Zheng, Y.W.; Lun, F.M.; Chan, L.Y.; Jin, Y.; Go, A.T.; Lau, E.T; To, W.W.; Leung, W.C.; Tang, R.Y.; Au-Yeung, S.K.; Lam, H.; Kung, Y.Y.; Zhang, X.; Vugt, J.M.G. van; Minekawa, R.; Tang, M.H.; Wang, J.; Oudejans, C.B.; Lau, T.K.; Nicolaides, K.H.; Lo, Y.M.

    2011-01-01

    Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due

  10. Cell-baswd non-invasive prenatal testing

    DEFF Research Database (Denmark)

    Uldbjerg, Niels; Singh, Ripudaman; Christensen, Rikke

    that fetal cells are stable in blood samples stored up to 48 hours. Using these cells, we have detected subchromosomal abnormalities including one with mosaic 45, X/46, X, r(X) which have been confirmed at DNA from chorion villus sampling. Conclusions: We conclude that fcmb-NIPT deserves full attention......CONTROL ID: 2520273 ABSTRACT FINAL ID: OC06.03 TITLE: Cell based Non-invasive Prenatal Testing (NIPT) AUTHORS (FIRST NAME, LAST NAME): Niels Uldbjerg2, Ripudaman Singh4, Rikke Christensen3, Palle Schelde4, Ida Vogel1, Else Marie Vestergaard3, Lotte Hatt4, Steen Kølvrå4 INSTITUTIONS (ALL): 1...... therefore hypothesize that NIPT based on amplified DNA from fetal cells circulating in maternal blood (fcmb-NIPT) will make it possible to detect subchromosomal aberrations. Methods: We obtained 30 ml of whole blood from 100 pregnant women undergoing chorion villus sampling at a gestational age of 10...

  11. New trend in non-invasive prenatal diagnosis.

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    Ferrari, M; Carrera, P; Lampasona, V; Galbiati, S

    2015-12-07

    The presence of fetal DNA in maternal plasma represents a source of genetic material which can be obtained non-invasively. To date, the translation of noninvasive prenatal diagnosis from research into clinical practice has been rather fragmented, and despite the advances in improving the analytical sensitivity of methods, distinguishing between fetal and maternal sequences remains very challenging. Thus, the field of noninvasive prenatal diagnosis of genetic diseases has yet to attain a routine application in clinical diagnostics. On the contrary, fetal sex determination in pregnancies at high risk of sex-linked disorders, tests for fetal RHD genotyping and non-invasive assessment of chromosomal aneuploidies are now available worldwide. Copyright © 2014 Elsevier B.V. All rights reserved.

  12. Commercial landscape of noninvasive prenatal testing in the United States.

    Science.gov (United States)

    Agarwal, Ashwin; Sayres, Lauren C; Cho, Mildred K; Cook-Deegan, Robert; Chandrasekharan, Subhashini

    2013-06-01

    Cell-free fetal DNA-based noninvasive prenatal testing (NIPT) could significantly change the paradigm of prenatal testing and screening. Intellectual property (IP) and commercialization promise to be important components of the emerging debate about clinical implementation of these technologies. We have assembled information about types of testing, prices, turnaround times, and reimbursement of recently launched commercial tests in the United States from the trade press, news articles, and scientific, legal, and business publications. We also describe the patenting and licensing landscape of technologies underlying these tests and ongoing patent litigation in the United States. Finally, we discuss how IP issues may affect clinical translation of NIPT and their potential implications for stakeholders. Fetal medicine professionals (clinicians and researchers), genetic counselors, insurers, regulators, test developers, and patients may be able to use this information to make informed decisions about clinical implementation of current and emerging noninvasive prenatal tests. © 2013 John Wiley & Sons, Ltd.

  13. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

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    Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

    2016-01-01

    A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. © 2016 S. Karger AG, Basel.

  14. Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing

    DEFF Research Database (Denmark)

    Jiang, Haojun; Xie, Yifan; Li, Xuchao

    2016-01-01

    developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels......Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we...... paternity test using STR multiplex system. Our study here proved that the maternal plasma DNA sequencing-based technology is feasible and accurate in determining paternity, which may provide an alternative in forensic application in the future....

  15. Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care

    DEFF Research Database (Denmark)

    Clausen, Frederik Banch

    2014-01-01

    Incompatibility of red blood cell blood group antigens between a pregnant woman and her fetus can cause maternal immunization and, consequently, hemolytic disease of the fetus and newborn. Noninvasive prenatal testing of cell-free fetal DNA can be used to assess the risk of hemolytic disease...

  16. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    NARCIS (Netherlands)

    van Schendel, Rachèl V.; Kleinveld, Johanna H.; Dondorp, Wybo J.; Pajkrt, Eva; Timmermans, Danielle R. M.; Holtkamp, Kim C. A.; Karsten, Margreet; Vlietstra, Anne L.; Lachmeijer, Augusta M. A.; Henneman, Lidewij

    2014-01-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The

  17. Current approaches on non-invasive prenatal diagnosis: Prenatal genomics, transcriptomics, personalized fetal diagnosis

    Directory of Open Access Journals (Sweden)

    Tuba Günel

    2014-12-01

    Full Text Available Recent developments in molecular genetics improved our knowledge on fetal genome and physiology. Novel scientific innovations in prenatal diagnosis have accelerated in the last decade changing our vision immensely. Data obtained from fetal genomic studies brought new insights to fetal medicine and by the advances in fetal DNA and RNA sequencing technology novel treatment strategies has evolved. Non-invasive prenatal diagnosis found ground in genetics and the results are widely studied in scientific arena. When Lo and colleges proved fetal genetic material can be extracted from maternal plasma and fetal DNA can be isolated from maternal serum, the gate to many exciting discoveries was open. Microarray technology and advances in sequencing helped fetal diagnosis as well as other areas of medicine. Today it is a very crucial prerequisite for physicians practicing prenatal diagnosis to have a profound knowledge in genetics. Prevailing practical use and application of fetal genomic tests in maternal and fetal medicine mandates obstetricians to update their knowledge in genetics. The purpose of this review is to assist physicians to understand and update their knowledge in fetal genetic testing from maternal blood, individualized prenatal counseling and advancements on the subject by sharing our experiences as İstanbul University Fetal Nucleic Acid Research Group.

  18. Open source non-invasive prenatal testing platform and its performance in a public health laboratory

    DEFF Research Database (Denmark)

    Johansen, Peter; Richter, Stine R; Balslev-Harder, Marie

    2016-01-01

    OBJECTIVE: The objective of this study was to introduce non-invasive prenatal testing (NIPT) for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing and published open source scripts for analysis. METHODS: Plasma-derived DNA from a total of 375...... correlation (R(2)  = 0.72) to Y-chromosomal content of the male fetus samples. DISCUSSION: We have implemented NIPT into Danish health care using published open source scripts for autosomal aneuploidy detection and fetal DNA fraction estimation showing excellent false negative and false positive rates. Seq...

  19. Noninvasive prenatal diagnosis. Use of density gradient centrifugation, magnetically activated cell sorting and in situ hybridization

    DEFF Research Database (Denmark)

    Campagnoli, C; Multhaupt, H A; Ludomirski, A

    1997-01-01

    OBJECTIVE: To develop a noninvasive method suitable for clinical prenatal diagnosis. STUDY DESIGN: Fetal nucleated erythrocytes were separated from peripheral blood of 17 healthy pregnant women using small magnetically activated cell sorting columns (MiniMACS) following density gradient centrifug...

  20. Improved prenatal detection of chromosomal anomalies

    DEFF Research Database (Denmark)

    Frøslev-Friis, Christina; Hjort-Pedersen, Karina; Henriques, Carsten U

    2011-01-01

    Prenatal screening for karyotype anomalies takes place in most European countries. In Denmark, the screening method was changed in 2005. The aim of this study was to study the trends in prevalence and prenatal detection rates of chromosome anomalies and Down syndrome (DS) over a 22-year period....

  1. Cross-cultural perspectives on decision making regarding noninvasive prenatal testing: A comparative study of Lebanon and Quebec.

    Science.gov (United States)

    Haidar, Hazar; Vanstone, Meredith; Laberge, Anne-Marie; Bibeau, Gilles; Ghulmiyyah, Labib; Ravitsky, Vardit

    2018-01-01

    Noninvasive prenatal testing (NIPT), based on the detection of cell-free fetal DNA in maternal blood, has transformed the landscape of prenatal care by offering clinical benefits (noninvasive, high specificity and sensitivity, early detection of abnormalities) compared to existing prenatal screening tests. NIPT has expanded rapidly and is currently commercially available in most of the world. As NIPT spreads globally, culturally sensitive and ethically sound implementation will require policies that take into consideration the social and cultural context of prenatal testing decisions. In a Western context, the main ethical argument for providing access and public funding of prenatal tests is the promotion of reproductive autonomy (also referred to as "procreative liberty" and "reproductive freedom"), by enabling pregnant women and couples to access information about the fetus in order to choose a certain course of action for pregnancy management (continuation of pregnancy and preparation for birth or termination). So how is the framework of reproductive autonomy operationalized in non-Western cultural contexts? We used Quebec, Canada, and Beirut, Lebanon, for case studies to explore what ethical considerations related to reproductive autonomy should guide the implementation of the test in various cultural contexts. To answer this question, we conducted a qualitative study to (1) explore the perceptions, values, and preferences of pregnant women and their partners about NIPT and (2) examine how these values and perceptions influence reproductive autonomy and decision making in relation to NIPT in these two different cultural settings, Lebanon and Quebec. Our findings may guide health care professionals in providing counseling and in helping women and their partners make better informed prenatal testing decisions. Further, at a policy level, such understanding might inform the development of local guidelines and policies that are appropriate to each context.

  2. Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography.

    Science.gov (United States)

    Wünsche, S; Jüngert, J; Faschingbauer, F; Mommsen, H; Goecke, T; Schwanitz, K; Stepan, H; Schneider, H

    2015-08-01

    Hypohidrotic ectodermal dysplasia, a potentially life-threatening heritable disorder, may be recognized already in utero by characteristic features such as oligodontia and mandibular hypoplasia. As therapeutic options and prognosis depend on the time point of diagnosis, early recognition was attempted during routine prenatal ultrasound examinations. Fetuses of nine pregnant women (one triplet and eight singleton pregnancies) with family histories of hypohidrotic ectodermal dysplasia were investigated by sonography between the 20th and 24th week of gestation. In 4 male and 2 female fetuses reduced amounts of tooth germs were detected, whereas 5 fetal subjects showed the normal amount. Three-dimensional ultrasound evaluation revealed mandibular hypoplasia in 5 of the 6 fetuses with oligodontia. Molecular genetic analysis and/or clinical findings after birth confirmed the prenatal sonographic diagnosis in each subject. In subjects with a family history of hypohidrotic ectodermal dysplasia, the diagnosis of this rare condition can be established noninvasively by sonography in the second trimester of pregnancy. Early recognition of the disorder may help to prevent dangerous hyperthermic episodes in infancy and may allow timely therapeutic interventions. © Georg Thieme Verlag KG Stuttgart · New York.

  3. Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

    Directory of Open Access Journals (Sweden)

    Haidar, Hazar

    2016-02-01

    Full Text Available Non-invasive prenatal testing (NIPT using cell-free fetal DNA (cffDNA from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI. This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening such as threats to women’s reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended and as a diagnostic test (potentially in the future, has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented.

  4. Non-invasive prenatal testing for aneuploidy and beyond

    DEFF Research Database (Denmark)

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne

    2015-01-01

    following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure...

  5. Non-invasive prenatal testing for sub-saharan Africa: Tailoring ...

    African Journals Online (AJOL)

    BACKGROUND Non-invasive prenatal testing (NIPT) for cell-free foetal (cff) RHD genotyping has clinical value to guide pregnancy management for alloimmunised RhD-negative pregnant women and guide antenatal anti-D prophylaxis needs for all D-negative women to prevent alloimmunisation. This assay assumes there ...

  6. Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

    NARCIS (Netherlands)

    Vermeulen, Carlo; Geeven, Geert; de Wit, Elzo; Verstegen, Marjon J A M; Jansen, Rumo P.M.; van Kranenburg, Melissa; de Bruijn, Ewart; Pulit, Sara L.; Kruisselbrink, Evelien; Shahsavari, Zahra; Omrani, Davood; Zeinali, Fatemeh; Najmabadi, Hossein; Katsila, Theodora; Vrettou, Christina; Patrinos, George P.; Traeger-Synodinos, Joanne; Splinter, Erik; Beekman, Jeffrey M.; Kheradmand Kia, Sima; Te Meerman, Gerard J; Ploos van Amstel, Hans Kristian; de Laat, Wouter

    2017-01-01

    During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background

  7. Noninvasive Test Detects Cardiovascular Disease

    Science.gov (United States)

    2007-01-01

    At NASA's Jet Propulsion Laboratory (JPL), NASA-developed Video Imaging Communication and Retrieval (VICAR) software laid the groundwork for analyzing images of all kinds. A project seeking to use imaging technology for health care diagnosis began when the imaging team considered using the VICAR software to analyze X-ray images of soft tissue. With marginal success using X-rays, the team applied the same methodology to ultrasound imagery, which was already digitally formatted. The new approach proved successful for assessing amounts of plaque build-up and arterial wall thickness, direct predictors of heart disease, and the result was a noninvasive diagnostic system with the ability to accurately predict heart health. Medical Technologies International Inc. (MTI) further developed and then submitted the technology to a vigorous review process at the FDA, which cleared the software for public use. The software, patented under the name Prowin, is being used in MTI's patented ArterioVision, a carotid intima-media thickness (CIMT) test that uses ultrasound image-capturing and analysis software to noninvasively identify the risk for the major cause of heart attack and strokes: atherosclerosis. ArterioVision provides a direct measurement of atherosclerosis by safely and painlessly measuring the thickness of the first two layers of the carotid artery wall using an ultrasound procedure and advanced image-analysis software. The technology is now in use in all 50 states and in many countries throughout the world.

  8. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    Directory of Open Access Journals (Sweden)

    Tanya Milachich

    2014-01-01

    Full Text Available The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF embryos. Preimplantation genetic diagnosis (PGD or screening (PGS involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

  9. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    Science.gov (United States)

    2014-01-01

    The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future. PMID:24783200

  10. First Trimester Noninvasive Prenatal Diagnosis: A Computational Intelligence Approach.

    Science.gov (United States)

    Neocleous, Andreas C; Nicolaides, Kypros H; Schizas, Christos N

    2016-09-01

    The objective of this study is to examine the potential value of using machine learning techniques such as artificial neural network (ANN) schemes for the noninvasive estimation, at 11-13 weeks of gestation, the risk for euploidy, trisomy 21 (T21), and other chromosomal aneuploidies (O.C.A.), from suitable sonographic, biochemical markers, and other relevant data. A database(1) (1)The dataset can become available for academic purposes by communicating directly with the authors.

  11. Non-invasive prenatal testing: a review of international implementation and challenges

    Directory of Open Access Journals (Sweden)

    Allyse M

    2015-01-01

    Full Text Available Megan Allyse,1 Mollie A Minear,2 Elisa Berson,3 Shilpa Sridhar,3 Margaret Rote,3 Anthony Hung,3 Subhashini Chandrasekharan4 1Institute for Health and Aging, University of California San Francisco, San Francisco, California, USA, 2Duke Science & Society, Duke University, Durham, NC, USA, 3Trinity College of Arts and Sciences, Duke University, Durham, NC, USA; 4Duke Global Health Institute, Duke University, Durham, NC, USA Abstract: Noninvasive prenatal genetic testing (NIPT is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate and specificity (true negative rate make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have

  12. Non-invasive prenatal testing: a review of international implementation and challenges

    Science.gov (United States)

    Allyse, Megan; Minear, Mollie A; Berson, Elisa; Sridhar, Shilpa; Rote, Margaret; Hung, Anthony; Chandrasekharan, Subhashini

    2015-01-01

    Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world. PMID:25653560

  13. Pre-analytical conditions in non-invasive prenatal testing of cell-free fetal RHD.

    Directory of Open Access Journals (Sweden)

    Frederik Banch Clausen

    Full Text Available Non-invasive prenatal testing of cell-free fetal DNA (cffDNA in maternal plasma can predict the fetal RhD type in D negative pregnant women. In Denmark, routine antenatal screening for the fetal RhD gene (RHD directs the administration of antenatal anti-D prophylaxis only to women who carry an RhD positive fetus. Prophylaxis reduces the risk of immunization that may lead to hemolytic disease of the fetus and the newborn. The reliability of predicting the fetal RhD type depends on pre-analytical factors and assay sensitivity. We evaluated the testing setup in the Capital Region of Denmark, based on data from routine antenatal RHD screening.Blood samples were drawn at gestational age 25 weeks. DNA extracted from 1 mL of plasma was analyzed for fetal RHD using a duplex method for exon 7/10. We investigated the effect of blood sample transportation time (n = 110 and ambient outdoor temperatures (n = 1539 on the levels of cffDNA and total DNA. We compared two different quantification methods, the delta Ct method and a universal standard curve. PCR pipetting was compared on two systems (n = 104.The cffDNA level was unaffected by blood sample transportation for up to 9 days and by ambient outdoor temperatures ranging from -10 °C to 28 °C during transport. The universal standard curve was applicable for cffDNA quantification. Identical levels of cffDNA were observed using the two automated PCR pipetting systems. We detected a mean of 100 fetal DNA copies/mL at a median gestational age of 25 weeks (range 10-39, n = 1317.The setup for real-time PCR-based, non-invasive prenatal testing of cffDNA in the Capital Region of Denmark is very robust. Our findings regarding the transportation of blood samples demonstrate the high stability of cffDNA. The applicability of a universal standard curve facilitates easy cffDNA quantification.

  14. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

    Science.gov (United States)

    Gekas, Jean; Langlois, Sylvie; Ravitsky, Vardit; Audibert, François; van den Berg, David Gradus; Haidar, Hazar; Rousseau, François

    2016-01-01

    Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women.

  15. Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues.

    Science.gov (United States)

    Minear, Mollie A; Alessi, Stephanie; Allyse, Megan; Michie, Marsha; Chandrasekharan, Subhashini

    2015-01-01

    Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination of NIPT. The number of women using NIPT is anticipated to expand, and the number of conditions being tested for will continue to increase as well, raising concerns about the routinization of testing and negative impacts on informed decision making. Ensuring that accurate and balanced information is available to all pregnant women and that access to NIPT is equitable will require policy guidance from regulators, professional societies, and payers. Empirical evidence about stakeholders' perspectives and experiences will continue to be essential in guiding policy development so that advances in NIPT can be used effectively and appropriately to improve prenatal care.

  16. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

    Directory of Open Access Journals (Sweden)

    Gekas J

    2016-02-01

    Full Text Available Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,7 1Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 2Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada; 5Department of Obstetrics and Gynecology, Hospital Sainte-Justine, Montreal, QC, Canada; 6Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC, Canada Abstract: Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women. Keywords: prenatal diagnosis, Down syndrome, non-invasive prenatal testing, cell-free fetal DNA, informed consent, reproductive autonomy

  17. Non-invasive prenatal testing for trisomies 21, 18 and 13

    DEFF Research Database (Denmark)

    Zhang, H.; Gao, Y.; Jiang, F.

    2015-01-01

    OBJECTIVES: To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140 000 clinical samples and to compare its performance in low-risk and high-risk pregnancies. METHODS: Between 1 January 2012...... samples, for which outcome data were available in 112 669 (76.7%). Repeat blood sampling was required in 3213 cases and 145 had test failure. Aneuploidy was confirmed in 720/781 cases positive for trisomy 21, 167/218 cases positive for trisomy 18 and 22/67 cases positive for trisomy 13 on NIPT. Nine false...... difference in test performance between the 72 382 high-risk and 40 287 low-risk subjects (sensitivity, 99.21% vs 98.97% (P = 0.82); specificity, 99.95% vs 99.95% (P = 0.98)). The major factors contributing to false-positive and false-negative NIPT results were maternal copy number variant and fetal...

  18. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

    Science.gov (United States)

    Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

    2014-01-01

    Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

  19. Potential diagnostic consequences of applying non-invasive prenatal testing

    DEFF Research Database (Denmark)

    Petersen, O B; Vogel, I; Ekelund, C

    2014-01-01

    Fetal Medicine database. Karyotypes were classified according to whether the chromosomal anomaly would have been detected by NIPT and whether it was likely to affect phenotype. RESULTS: cFTS was completed in 193638 pregnancies. 10205 (5.3%) had cytogenetic or molecular analysis performed. Of these, 1122...

  20. Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.

    Science.gov (United States)

    Orhant, Lucie; Anselem, Olivia; Fradin, Mélanie; Becker, Pierre Hadrien; Beugnet, Caroline; Deburgrave, Nathalie; Tafuri, Gilles; Letourneur, Franck; Goffinet, François; Allach El Khattabi, Laïla; Leturcq, France; Bienvenu, Thierry; Tsatsaris, Vassilis; Nectoux, Juliette

    2016-05-01

    Achondroplasia is generally detected by abnormal prenatal ultrasound findings in the third trimester of pregnancy and then confirmed by molecular genetic testing of fetal genomic DNA obtained by aspiration of amniotic fluid. This invasive procedure presents a small but significant risk for both the fetus and mother. Therefore, non-invasive procedures using cell-free fetal DNA in maternal plasma have been developed for the detection of the fetal achondroplasia mutations. To determine whether the fetus carries the de novo mis-sense genetic mutation at nucleotide 1138 in FGFR3 gene involved in >99% of achondroplasia cases, we developed two independent methods: digital-droplet PCR combined with minisequencing, which are very sensitive methods allowing detection of rare alleles. We collected 26 plasmatic samples from women carrying fetus at risk of achondroplasia and diagnosed to date a total of five affected fetuses in maternal blood. The sensitivity and specificity of our test are respectively 100% [95% confidence interval, 56.6-100%] and 100% [95% confidence interval, 84.5-100%]. This novel, original strategy for non-invasive prenatal diagnosis of achondroplasia is suitable for implementation in routine clinical testing and allows considering extending the applications of these technologies in non-invasive prenatal diagnosis of many other monogenic diseases. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  1. An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population.

    Directory of Open Access Journals (Sweden)

    Peter Benn

    Full Text Available Analyze the economic value of replacing conventional fetal aneuploidy screening approaches with non-invasive prenatal testing (NIPT in the general pregnancy population.Using decision-analysis modeling, we compared conventional screening to NIPT with cell-free DNA (cfDNA analysis in the annual US pregnancy population. Sensitivity and specificity for fetal aneuploidies, trisomy 21, trisomy 18, trisomy 13, and monosomy X, were estimated using published data and modeling of both first- and second trimester screening. Costs were assigned for each prenatal test component and for an affected birth. The overall cost to the healthcare system considered screening costs, the number of aneuploid cases detected, invasive procedures performed, procedure-related euploid losses, and affected pregnancies averted. Sensitivity analyses evaluated the effect of variation in parameters. Costs were reported in 2014 US Dollars.Replacing conventional screening with NIPT would reduce healthcare costs if it can be provided for $744 or less in the general pregnancy population. The most influential variables were timing of screening entry, screening costs, and pregnancy termination rates. Of the 13,176 affected pregnancies undergoing screening, NIPT detected 96.5% (12,717/13,176 of cases, compared with 85.9% (11,314/13,176 by conventional approaches. NIPT reduced invasive procedures by 60.0%, with NIPT and conventional methods resulting in 24,596 and 61,430 invasive procedures, respectively. The number of procedure-related euploid fetal losses was reduced by 73.5% (194/264 in the general screening population.Based on our analysis, universal application of NIPT would increase fetal aneuploidy detection rates and can be economically justified. Offering this testing to all pregnant women is associated with substantial prenatal healthcare benefits.

  2. Localizing NIPT: Practices and meanings of non-invasive prenatal testing in China, Italy, Brazil and the UK

    OpenAIRE

    Zeng, Xiaofan; Zannoni, Letizia; Löwy, Ilana; Camporesi, Silvia

    2016-01-01

    This paper is the result of a collaborative work between researchers based in UK, Italy, China and Brazil, and aims at providing a comprehensive review of practices and meanings of Non-Invasive Prenatal Testing (NIPT) in these countries, while also highlighting the ethical implications that NIPT poses. In the first part of this paper we describe how the technology is being integrated into the ‘moral economy’ of prenatal testing in the different countries we analysed. In the second section of ...

  3. It’s More Than a Blood Test: Patients’ Perspectives on Noninvasive Prenatal Testing

    Directory of Open Access Journals (Sweden)

    Ruth M. Farrell

    2014-06-01

    Full Text Available Noninvasive prenatal testing (NIPT offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology.

  4. Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications.

    Science.gov (United States)

    Hall, Alison; Bostanci, A; Wright, C F

    2010-01-01

    Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service. Copyright 2010 S. Karger AG, Basel.

  5. Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities.

    NARCIS (Netherlands)

    Go, A.T.; Vugt, J.M.G. van; Oudejans, C.B.

    2011-01-01

    BACKGROUND: Cell-free fetal DNA (cff DNA) and RNA can be detected in maternal plasma and used for non-invasive prenatal diagnostics. Recent technical advances have led to a drastic change in the clinical applicability and potential uses of free fetal DNA and RNA. This review summarizes the latest

  6. Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.

    Science.gov (United States)

    Georgsson, Susanne; Sahlin, Ellika; Iwarsson, Moa; Nordenskjöld, Magnus; Gustavsson, Peter; Iwarsson, Erik

    2017-06-01

    Non-invasive prenatal testing (NIPT) was recently introduced for prenatal testing of genetic disorders. Cell-free fetal DNA is present in maternal blood during pregnancy and enables detection of fetal chromosome aberrations in a maternal blood sample. The public perspective to this new, simple method has not been illuminated. The views of young people (i.e. future parents) are important to develop suitable counseling strategies regarding prenatal testing. The aim was to explore Swedish high school students' attitudes, knowledge and preferences regarding NIPT. A questionnaire was completed by 305 students recruited from one high school in Stockholm, November and December 2014. Most students (80 %) considered prenatal testing as good. The majority (65 %) was positive or very positive towards NIPT and 62 % stated that they potentially would like to undergo the test if they or their partner was pregnant. The vast majority (94 %) requested further information about NIPT. Most students (61 %) preferred verbal information, whereas 20 % preferred information via the Internet. The majority of the high school students was positive towards prenatal testing and most was positive towards NIPT. Further, information was requested by the vast majority before making a decision about NIPT. Most of the students preferred verbal information and to a lesser extent information via the Internet. The attitudes, knowledge and preferences for risk information concerning NIPT in young adults are important, in order to increase knowledge on how to educate and inform future parents.

  7. Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center

    DEFF Research Database (Denmark)

    Tan, YueQiu; Gao, Ya; Lin, Ge

    2016-01-01

    Objective: The objective of the study is to report the performance of noninvasive prenatal testing (NIPT) in twin pregnancies after the treatment of assisted reproductive technology (ART). Method: In two years period, 565 pregnant women with ART twin pregnancies were prospectively tested by NIPT...

  8. Report on noninvasive prenatal testing: classical and alternative approaches [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Kateryna S. Pantiukh

    2016-04-01

    Full Text Available Concerns of traditional prenatal aneuploidy testing methods, such as low accuracy of noninvasive and health risks associated with invasive procedures, were overcome with the introduction of novel noninvasive methods based on genetics (NIPT. These were rapidly adopted into clinical practice in many countries after a series of successful trials of various independent submethods. Here we present results of own NIPT trial carried out in Moscow, Russia. 1012 samples were subjected to the method aimed at measuring chromosome coverage by massive parallel sequencing. Two alternative approaches are ascertained: one based on maternal/fetal differential methylation and another based on allelic difference. While the former failed to provide stable results, the latter was found to be promising and worthy of conducting a large-scale trial. One critical point in any NIPT approach is the determination of fetal cell-free DNA fraction, which dictates the reliability of obtained results for a given sample. We show that two different chromosome Y representation measures—by real-time PCR and by whole-genome massive parallel sequencing—are practically interchangeable (r=0.94. We also propose a novel method based on maternal/fetal allelic difference which is applicable in pregnancies with fetuses of either sex. Even in its pilot form it correlates well with chromosome Y coverage estimates (r=0.74 and can be further improved by increasing the number of polymorphisms.

  9. Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy.

    Science.gov (United States)

    Griffin, Blanche; Edwards, Samantha; Chitty, Lyn S; Lewis, Celine

    2018-03-01

    Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing. Nevertheless, professional societies currently recommend it as an advanced screening test due to the low false positive rate (FPR). Despite the practical and psychological benefits, a number of concerns have been raised which warrant attention. These include the potential for routinisation of testing and subsequent impact on informed decision-making, an "easy" blood test inadvertently contributing to women feeling pressured to take the test, fears NIPT will lead to less tolerance and support for those living with Down syndrome and the heightened expectation of having "perfect babies". These issues can be addressed to some extent through clinician education, patient information and establishing national and international consensus in the development of comprehensive and regularly updated guidelines. As the number of conditions we are able to test for non-invasively expands it will be increasingly important to ensure pre-test counselling can be delivered effectively supported by knowledgeable healthcare professionals.

  10. Imprinted NanoVelcro Microchips for Isolation and Characterization of Circulating Fetal Trophoblasts: Toward Noninvasive Prenatal Diagnostics

    OpenAIRE

    Hou, Shuang; Chen, Jie-Fu; Song, Min; Zhu, Yazhen; Jan, Yu Jen; Chen, Szu Hao; Weng, Tzu-Hua; Ling, Dean-An; Chen, Shang-Fu; Ro, Tracy; Liang, An-Jou; Lee, Tom; Jin, Helen; Li, Man; Liu, Lian

    2017-01-01

    Circulating fetal nucleated cells (CFNCs) in maternal blood offer an ideal source of fetal genomic DNA for noninvasive prenatal diagnostics (NIPD). We developed a class of nanoVelcro microchips to effectively enrich a subcategory of CFNCs, i.e., circulating trophoblasts (cTBs) from maternal blood, which can then be isolated with single-cell resolution by a laser capture microdissection (LCM) technique for downstream genetic testing. We first established a nanoimprinting fabrication process to...

  11. High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions.

    Directory of Open Access Journals (Sweden)

    Tianjiao Chu

    Full Text Available Our goal was to test the hypothesis that inter-individual genomic copy number variation in control samples is a confounding factor in the non-invasive prenatal detection of fetal microdeletions via the sequence-based analysis of maternal plasma DNA. The database of genomic variants (DGV was used to determine the "Genomic Variants Frequency" (GVF for each 50kb region in the human genome. Whole genome sequencing of fifteen karyotypically normal maternal plasma and six CVS DNA controls samples was performed. The coefficient of variation of relative read counts (cv.RTC for these samples was determined for each 50kb region. Maternal plasma from two pregnancies affected with a chromosome 5p microdeletion was also sequenced, and analyzed using the GCREM algorithm. We found strong correlation between high variance in read counts and GVF amongst controls. Consequently we were unable to confirm the presence of the microdeletion via sequencing of maternal plasma samples obtained from two sequential affected pregnancies. Caution should be exercised when performing NIPT for microdeletions. It is vital to develop our understanding of the factors that impact the sensitivity and specificity of these approaches. In particular, benign copy number variation amongst controls is a major confounder, and their effects should be corrected bioinformatically.

  12. Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process.

    Science.gov (United States)

    Murdoch, Blake; Ravitsky, Vardit; Ogbogu, Ubaka; Ali-Khan, Sarah; Bertier, Gabrielle; Birko, Stanislav; Bubela, Tania; De Beer, Jeremy; Dupras, Charles; Ellis, Meika; Granados Moreno, Palmira; Joly, Yann; Kamenova, Kalina; Master, Zubin; Marcon, Alessandro; Paulden, Mike; Rousseau, François; Caulfield, Timothy

    2017-01-01

    Non-invasive prenatal testing (NIPT) is an exciting technology with the potential to provide a variety of clinical benefits, including a reduction in miscarriages, via a decline in invasive testing. However, there is also concern that the economic and near-future clinical benefits of NIPT have been overstated and the potential limitations and harms underplayed. NIPT, therefore, presents an opportunity to explore the ways in which a range of social pressures and policies can influence the translation, implementation, and use of a health care innovation. NIPT is often framed as a potential first tier screen that should be offered to all pregnant women, despite concerns over cost-effectiveness. Multiple forces have contributed to a problematic translational environment in Canada, creating pressure towards first tier implementation. Governments have contributed to commercialization pressure by framing the publicly funded research sector as a potential engine of economic growth. Members of industry have an incentive to frame clinical value as beneficial to the broadest possible cohort in order to maximize market size. Many studies of NIPT were directly funded and performed by private industry in laboratories lacking strong independent oversight. Physicians' fear of potential liability for failing to recommend NIPT may further drive widespread uptake. Broad social endorsement, when combined with these translation pressures, could result in the "routinization" of NIPT, thereby adversely affecting women's reproductive autonomy. Policymakers should demand robust independent evidence of clinical and public health utility relevant to their respective jurisdictions before making decisions regarding public funding for NIPT. Copyright © 2017 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  13. EUROCAT website data on prenatal detection rates of congenital anomalies

    NARCIS (Netherlands)

    Garne, Ester; Dolk, Helen; Loane, Maria; Boyd, Patricia A.

    2010-01-01

    The EUROCAT website www.eurocat-network.eu publishes prenatal detection rates for major congenital anomalies using data from European population-based congenital anomaly registers, covering 28% of the EU population as well as non-EU countries. Data are updated annually. This information can be

  14. EUROCAT website data on prenatal detection rates of congenital anomalies

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Loane, Maria

    2010-01-01

    The EUROCAT website www.eurocat-network.eu publishes prenatal detection rates for major congenital anomalies using data from European population-based congenital anomaly registers, covering 28% of the EU population as well as non-EU countries. Data are updated annually. This information can be us...

  15. Non-invasive prenatal cell-free fetal DNA testing for down syndrome and other chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Darija Strah

    2015-12-01

    Full Text Available Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT is based on the analysis of cell-free fetal DNA from maternal blood. It represents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years.Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing.Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 % and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %. In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 % and sensitivity (95 % confidence interval: 31.00 %–100.00 % turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %.Conclusions: Our results confirm that NIPT represents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal

  16. Noninvasive prenatal testing in routine clinical practice--an audit of NIPT and combined first-trimester screening in an unselected Australian population.

    Science.gov (United States)

    McLennan, Andrew; Palma-Dias, Ricardo; da Silva Costa, Fabricio; Meagher, Simon; Nisbet, Debbie L; Scott, Fergus

    2016-02-01

    There are limited data regarding noninvasive prenatal testing (NIPT) in low-risk populations, and the ideal aneuploidy screening model for a pregnant population has yet to be established. To assess the implementation of NIPT into clinical practice utilising both first- and second-line screening models. Three private practices specialising in obstetric ultrasound and prenatal diagnosis in Australia offered NIPT as a first-line test, ideally followed by combined first-trimester screening (cFTS), or as a second-line test following cFTS, particularly in those with a calculated risk between 1:50 and 1:1000. NIPT screening was performed in 5267 women and as a first-line screening method in 3359 (63.8%). Trisomies 21 and 13 detection was 100% and 88% for trisomy 18. Of cases with known karyotypes, the positive predictive value (PPV) of the test was highest for trisomy 21 (97.7%) and lowest for monosomy X (25%). Ultrasound detection of fetal structural abnormality resulted in the detection of five additional chromosome abnormalities, two of which had high-risk cFTS results. For all chromosomal abnormalities, NIPT alone detected 93.4%, a contingent model detected 81.8% (P = 0.097), and cFTS alone detected 65.9% (P < 0.005). NIPT achieved 100% T21 detection and had a higher DR of all aneuploidy when used as a first-line test. Given the false-positive rate for all aneuploidies, NIPT is an advanced screening test, rather than a diagnostic test. The benefit of additional cFTS was the detection of fetal structural abnormalities and some unusual chromosomal abnormalities. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  17. The value and role of non-invasive prenatal testing in a select South ...

    African Journals Online (AJOL)

    testing, which often leads to inaccuracies in interpretation of the role and value of cfDNA in prenatal screening.[9,10] As a result, several recommendations on the use of cfDNA for prenatal testing have been published.[9,11-13] Adequate data on NIPT only exist for high- risk populations, i.e. pregnant women with a risk of ...

  18. Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions.

    Science.gov (United States)

    van Schendel, Rachèl V; van El, Carla G; Pajkrt, Eva; Henneman, Lidewij; Cornel, Martina C

    2017-09-19

    Since the introduction of non-invasive prenatal testing (NIPT) in 2011, mainly by commercial companies, a growing demand for NIPT from the public and healthcare professionals has been putting pressure on the healthcare systems of various countries. This study identifies the challenges of establishing a responsible implementation of NIPT for aneuploidy in prenatal healthcare, by looking at the Netherlands. A mixed methods approach involving 13 stakeholder interviews, document analysis and (participatory) observations of the Dutch NIPT Consortium meetings were used. The Diffusion of Innovation Theory and a Network of Actors model were used to interpret the findings. Implementation of NIPT was facilitated by several factors. The set-up of a national NIPT Consortium enabled discussion and collaboration between stakeholders. Moreover, it led to the plan to offer NIPT through a nationwide research setting (TRIDENT studies), which created a learning phase for careful implementation. The Dutch legal context was perceived as a delaying factor, but eventually gave room for the parties involved to organise themselves and their practices. This study shows that implementing advanced technologies with profound effects on prenatal care benefit from a learning phase that allows time to carefully evaluate the technical performance and women's experiences and to enable public debate. Such a coordinated learning phase, involving all stakeholders, will stimulate the process of responsible and sustainable implementation.

  19. Cell-Free DNA-Based Non-invasive Prenatal Screening for Common Aneuploidies in a Canadian Province: A Cost-Effectiveness Analysis.

    Science.gov (United States)

    Nshimyumukiza, Léon; Beaumont, Jean-Alexandre; Duplantie, Julie; Langlois, Sylvie; Little, Julian; Audibert, François; McCabe, Christopher; Gekas, Jean; Giguère, Yves; Gagné, Christian; Reinharz, Daniel; Rousseau, François

    2018-01-01

    Yearly, 450 000 pregnant Canadians are eligible for voluntary prenatal screening for trisomy 21. Different screening strategies select approximately 4% of women for invasive fetal chromosome testing. Non-invasive prenatal testing (NIPT) using maternal blood cell-free DNA could reduce those invasive procedures but is expensive. This study evaluated the cost-effectiveness of NIPT strategies compared with conventional strategies. This study used a decision analytic model to estimate the cost-effectiveness of 13 prenatal screening strategies for fetal aneuploidies: six frequently used strategies, universal NIPT, and six strategies incorporating NIPT as a second-tier test. The study considered a virtual cohort of pregnant women of similar size and age as women in Quebec. Model data were obtained from published sources and government databases. The study predicted the number of chromosomal anomalies detected (trisomies 21, 13, and 18), invasive procedures and euploid fetal losses, direct costs, and incremental cost-effectiveness ratios. Of the 13 strategies compared, eight identified fewer cases at a higher cost than at least one of the remaining five strategies. Integrated serum screening with conditional NIPT had the lowest cost, and the cost per case detected was $63 139, with a 90% reduction of invasive procedures. The number of cases identified was improved with four other screening strategies, but with increasing of incremental costs per case (from $61 623 to $1 553 615). Results remained robust, except when NIPT costs and risk cut-offs varied. NIPT as a second-tier test for high-risk women is likely to be cost-effective as compared with screening algorithms not involving NIPT. Copyright © 2018 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  20. Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.

    Science.gov (United States)

    Macher, Hada C; Martinez-Broca, Maria A; Rubio-Calvo, Amalia; Leon-Garcia, Cristina; Conde-Sanchez, Manuel; Costa, Alzenira; Navarro, Elena; Guerrero, Juan M

    2012-01-01

    The multiple endocrine neoplasia type 2A (MEN2A) is a monogenic disorder characterized by an autosomal dominant pattern of inheritance which is characterized by high risk of medullary thyroid carcinoma in all mutation carriers. Although this disorder is classified as a rare disease, the patients affected have a low life quality and a very expensive and continuous treatment. At present, MEN2A is diagnosed by gene sequencing after birth, thus trying to start an early treatment and by reduction of morbidity and mortality. We first evaluated the presence of MEN2A mutation (C634Y) in serum of 25 patients, previously diagnosed by sequencing in peripheral blood leucocytes, using HRM genotyping analysis. In a second step, we used a COLD-PCR approach followed by HRM genotyping analysis for non-invasive prenatal diagnosis of a pregnant woman carrying a fetus with a C634Y mutation. HRM analysis revealed differences in melting curve shapes that correlated with patients diagnosed for MEN2A by gene sequencing analysis with 100% accuracy. Moreover, the pregnant woman carrying the fetus with the C634Y mutation revealed a melting curve shape in agreement with the positive controls in the COLD-PCR study. The mutation was confirmed by sequencing of the COLD-PCR amplification product. In conclusion, we have established a HRM analysis in serum samples as a new primary diagnosis method suitable for the detection of C634Y mutations in MEN2A patients. Simultaneously, we have applied the increase of sensitivity of COLD-PCR assay approach combined with HRM analysis for the non-invasive prenatal diagnosis of C634Y fetal mutations using pregnant women serum.

  1. Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.

    Directory of Open Access Journals (Sweden)

    Hada C Macher

    Full Text Available The multiple endocrine neoplasia type 2A (MEN2A is a monogenic disorder characterized by an autosomal dominant pattern of inheritance which is characterized by high risk of medullary thyroid carcinoma in all mutation carriers. Although this disorder is classified as a rare disease, the patients affected have a low life quality and a very expensive and continuous treatment. At present, MEN2A is diagnosed by gene sequencing after birth, thus trying to start an early treatment and by reduction of morbidity and mortality. We first evaluated the presence of MEN2A mutation (C634Y in serum of 25 patients, previously diagnosed by sequencing in peripheral blood leucocytes, using HRM genotyping analysis. In a second step, we used a COLD-PCR approach followed by HRM genotyping analysis for non-invasive prenatal diagnosis of a pregnant woman carrying a fetus with a C634Y mutation. HRM analysis revealed differences in melting curve shapes that correlated with patients diagnosed for MEN2A by gene sequencing analysis with 100% accuracy. Moreover, the pregnant woman carrying the fetus with the C634Y mutation revealed a melting curve shape in agreement with the positive controls in the COLD-PCR study. The mutation was confirmed by sequencing of the COLD-PCR amplification product. In conclusion, we have established a HRM analysis in serum samples as a new primary diagnosis method suitable for the detection of C634Y mutations in MEN2A patients. Simultaneously, we have applied the increase of sensitivity of COLD-PCR assay approach combined with HRM analysis for the non-invasive prenatal diagnosis of C634Y fetal mutations using pregnant women serum.

  2. Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

    DEFF Research Database (Denmark)

    Xu, Yan; Li, Xuchao; Ge, Hui-Juan

    2015-01-01

    Purpose:This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne muscular dystrophy (DMD) using a newly developed haplotype-based approach.Methods:Eight families at risk for DMD were recruited for this study. Parental haplotypes were constructed using target-region sequencing data...

  3. Prenatal detection of microtia by MRI in a fetus with trisomy 22

    International Nuclear Information System (INIS)

    Milic, Andrea; Blaser, Susan; Robinson, Ashley; Viero, Sandra; Halliday, William; Winsor, Elizabeth; Toi, Ants; Thomas, Micki; Chitayat, David

    2006-01-01

    Trisomy 22 is a rare chromosomal abnormality infrequently detected prenatally. External ear abnormalities, in particular microtia, are often associated with trisomy 22, but prenatal detection of microtia has not been reported in association with trisomy 22. We report a fetus with trisomy 22, with fetal MRI findings of microtia, craniofacial dysmorphism, and polygyria. Fetal MRI is a useful tool for auricular assessment and might have utility in the prenatal detection of chromosomal abnormalities, especially among fetuses with structural anomalies. (orig.)

  4. Antenatal screening for aneuploidy--surveying the current situation and planning for non-invasive prenatal diagnosis in New Zealand.

    Science.gov (United States)

    Eastwood, Ashley; Webster, Dianne; Taylor, Juliet; Mckay, Richard; McEwen, Alison; Sullivan, Jan; Pope-Couston, Rachel; Stone, Peter

    2016-01-29

    To gauge clinical opinion about the current system and possible changes as well as providing a forum for education about Non-Invasive Prenatal Testing (NIPT). A series of workshops for doctors and midwives, supported by the National Screening Unit of the Ministry of Health and the Royal Australian and New Zealand College of Obstetricians and Gynaecologists, were held in the main centres of New Zealand. Following a brief education session, a structured evaluation of current screening and future possibilities was undertaken by questionnaire. One hundred and eight maternity carers participated in 5 workshops. Over 40% identified barriers to current screening. More than 60% would support NIPT in the first trimester. The majority of carers provided their own counselling support for women. The survey has shown general enthusiasm for the introduction of publically funded NIPT into prenatal screening in New Zealand. Barriers to utilisation of the current system have been identified and enhancements to screening performance with guidelines around conditions to be screened for would be supported.

  5. Biomarkers for the detection of prenatal alcohol exposure (PAE)

    DEFF Research Database (Denmark)

    Bjerregaard, Lene Berit Skov; Bager, Heidi; Husby, Steffen

    2017-01-01

    Alcohol exposure during pregnancy can cause adverse effects to the fetus, because it interferes with fetal development, leading to later physical and mental impairment. The most common clinical tool to determine fetal alcohol exposure is maternal self-reporting. However, a more objective and useful...... method is based on the use of biomarkers in biological specimens alone or in combination with maternal self-reporting. This review reports on clinically relevant biomarkers for detection of prenatal alcohol exposure (PAE). A systematic search was performed to ensure a proper overview in existing...... to be applicable for detection of even low levels of alcohol exposure. Meconium is an accessible matrix for determination of FAEEs and EtG, and blood an accessible matrix for determination of PEth....

  6. Noninvasive biological sensor system for detection of drunk driving.

    Science.gov (United States)

    Murata, Kohji; Fujita, Etsunori; Kojima, Shigeyuki; Maeda, Shinitirou; Ogura, Yumi; Kamei, Tsutomu; Tsuji, Toshio; Kaneko, Shigehiko; Yoshizumi, Masao; Suzuki, Nobutaka

    2011-01-01

    Systems capable of monitoring the biological condition of a driver and issuing warnings during instances of drowsiness have recently been studied. Moreover, many researchers have reported that biological signals, such as brain waves, pulsation waves, and heart rate, are different between people who have and have not consumed alcohol. Currently, we are developing a noninvasive system to detect individuals driving under the influence of alcohol by measuring biological signals. We used the frequency time series analysis to attempt to distinguish between normal and intoxicated states of a person as the basis of the sensing system.

  7. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.

    Science.gov (United States)

    Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

    2012-11-01

    Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.

  8. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective

    Science.gov (United States)

    Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

    2012-01-01

    Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods. PMID:22453293

  9. Women's perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions.

    Science.gov (United States)

    Vanstone, Meredith; Cernat, Alexandra; Nisker, Jeff; Schwartz, Lisa

    2018-04-16

    Non-Invasive Prenatal Testing (NIPT) is a technology which provides information about fetal genetic characteristics (including sex) very early in pregnancy by examining fetal DNA obtained from a sample of maternal blood. NIPT is a morally complex technology that has advanced quickly to market with a strong push from industry developers, leaving many areas of uncertainty still to be resolved, and creating a strong need for health policy that reflects women's social and ethical values. We approach the need for ethical policy-making by studying the use of NIPT and emerging policy in the province of Ontario, Canada. Using an adapted version of constructivist grounded theory, we conducted interviews with 38 women who have had personal experiences with NIPT. We used an iterative process of data collection and analysis and a staged coding strategy to conduct a descriptive analysis of ethics issues identified implicitly and explicitly by women who have been affected by this technology. The findings of this paper focus on current ethical issues for women seeking NIPT, including place in the prenatal pathway, health care provider counselling about the test, industry influence on the diffusion of NIPT, consequences of availability of test results. Other issues gain relevance in the context of future policy decisions regarding NIPT, including funding of NIPT and principles that may govern the expansion of the scope of NIPT. These findings are not an exhaustive list of all the potential ethical issues related to NIPT, but rather a representation of the issues which concern women who have personal experience with this test. Women who have had personal experience with NIPT have concerns and priorities which sometimes contrast dramatically with the theoretical ethics literature. These findings suggest the importance of engaging patients in ethical deliberation about morally complex technologies, and point to the need for more deliberative patient engagement work in this area.

  10. Noninvasive detection of macular pigments in the human eye.

    Science.gov (United States)

    Gellermann, Werner; Bernstein, Paul S

    2004-01-01

    There is currently strong interest in developing noninvasive technologies for the detection of macular carotenoid pigments in the human eye. These pigments, consisting of lutein and zeaxanthin, are taken up from the diet and are thought to play an important role in the prevention of age-related macular degeneration, the leading cause of blindness in the elderly in the Western world. It may be possible to prevent or delay the onset of this debilitating disease with suitable dietary intervention strategies. We review the most commonly used detection techniques based on heterochromatic flicker photometry, fundus reflectometry, and autofluorescense techniques and put them in perspective with recently developed more molecule-specific Raman detection methods. (c) 2004 Society of Photo-Optical Instrumentation Engineers.

  11. The Application of Next Generation Sequencing Technology on Noninvasive Prenatal Test

    DEFF Research Database (Denmark)

    Jiang, Hui

    There are nearly 7000 rare diseases that have been reported in the world. Although most of them occur with a frequency of less than one in 2000, in total about 6% of the population suffers from rare diseases. These rare diseases are often caused by changes in genes, which is currently lack of eff...... diseases and monogenetic diseases in a noninvasively manner. The new approach has great potential to be wildly used in the worldwide with the decreasing in sequencing costs, and therefore play an incredible role to prevent rare diseases....

  12. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

    Science.gov (United States)

    Chitty, Lyn S; Mason, Sarah; Barrett, Angela N; McKay, Fiona; Lench, Nicholas; Daley, Rebecca; Jenkins, Lucy A

    2015-07-01

    Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia. PCR-RED was performed in 72 cases and was correct in 88.6%, inconclusive in 7% with one false negative. NGS was performed in 47 cases and was accurate in 96.2% with no inconclusives. Both approaches were used in 27 cases, with NGS giving the correct result in the two cases inconclusive with PCR-RED. NGS provides an accurate, flexible approach to non-invasive prenatal diagnosis of de novo and paternally inherited mutations. It is more sensitive than PCR-RED and is ideal when screening a gene with multiple potential pathogenic mutations. These findings highlight the value of NGS in the development of non-invasive prenatal diagnosis for other monogenic disorders. © 2015 John Wiley & Sons, Ltd.

  13. DNA methylome profiling of maternal peripheral blood and placentas reveal potential fetal DNA markers for non-invasive prenatal testing.

    Science.gov (United States)

    Xiang, Yuqian; Zhang, Junyu; Li, Qiaoli; Zhou, Xinyao; Wang, Teng; Xu, Mingqing; Xia, Shihui; Xing, Qinghe; Wang, Lei; He, Lin; Zhao, Xinzhi

    2014-09-01

    Utilizing epigenetic (DNA methylation) differences to differentiate between maternal peripheral blood (PBL) and fetal (placental) DNA has been a promising strategy for non-invasive prenatal testing (NIPT). However, the differentially methylated regions (DMRs) have yet to be fully ascertained. In the present study, we performed genome-wide comparative methylome analysis between maternal PBL and placental DNA from pregnancies of first trimester by methylated DNA immunoprecipitation-sequencing (MeDIP-Seq) and Infinium HumanMethylation450 BeadChip assays. A total of 36 931 DMRs and 45 804 differentially methylated sites (DMSs) covering the whole genome, exclusive of the Y chromosome, were identified via MeDIP-Seq and Infinium 450k array, respectively, of which 3759 sites in 2188 regions were confirmed by both methods. Not only did we find the previously reported potential fetal DNA markers in our identified DMRs/DMSs but also we verified fully the identified DMRs/DMSs in the validation round by MassARRAY EpiTYPER. The screened potential fetal DNA markers may be used for NIPT on aneuploidies and other chromosomal diseases, such as cri du chat syndrome and velo-cardio-facial syndrome. In addition, these potential markers may have application in the early diagnosis of placental dysfunction, such as pre-eclampsia. © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  14. Talking Points: Women's Information Needs for Informed Decision-Making About Noninvasive Prenatal Testing for Down Syndrome.

    Science.gov (United States)

    Dane, Aimée C; Peterson, Madelyn; Miller, Yvette D

    2018-03-17

    Adequate knowledge is a vital component of informed decision-making; however, we do not know what information women value when making decisions about noninvasive prenatal testing (NIPT). The current study aimed to identify women's information needs for decision-making about NIPT as a first-tier, non-contingent test with out-of-pocket expense and, in turn, inform best practice by specifying the information that should be prioritized when providing pre-test counseling to women in a time-limited scenario or space-limited decision support tool. We asked women (N = 242) in Australia to indicate the importance of knowing 24 information items when making a decision about NIPT and to choose two information items they would most value. Our findings suggest that women value having complete information when making decisions about NIPT. Information about the accuracy of NIPT and the pros and cons of NIPT compared to other screening and invasive tests were perceived to be most important. The findings of this study can be used to maximize the usefulness of time-limited discussions or space-limited decision support tools, but should not be routinely relied upon as a replacement for provision of full and tailored information when feasible.

  15. Clinical experience of laboratory follow-up with noninvasive prenatal testing using cell-free DNA and positive microdeletion results in 349 cases.

    Science.gov (United States)

    Schwartz, S; Kohan, M; Pasion, R; Papenhausen, P R; Platt, L D

    2018-02-01

    Screening via noninvasive prenatal testing (NIPT) involving the analysis of cell-free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laboratory's experience with follow-up of positive NIPT screens for microdeletions. Patients that were screened positive by NIPT for a microdeletion involving 1p, 4p, 5p, 15q, or 22q who underwent diagnostic studies by either chorionic villus sampling or amniocentesis were evaluated. The overall positive predictive value for 349 patients was 9.2%. When a microdeletion was confirmed, 39.3% of the cases had additional abnormal microarray findings. Unrelated abnormal microarray findings were detected in 11.8% of the patients in whom the screen positive microdeletion was not confirmed. Stretches of homozygosity in the microdeletion were frequently associated with a false positive cfDNA microdeletion result. Overall, this report reveals that while cfDNA analysis will screen for microdeletions, the positive predictive value is low; in our series it is 9.2%. Therefore, the patient should be counseled accordingly. Confirmatory diagnostic microarray studies are imperative because of the high percentage of false positives and the frequent additional abnormalities not delineated by cfDNA analysis. © 2018 John Wiley & Sons, Ltd.

  16. Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.

    Science.gov (United States)

    Guissart, Claire; Debant, Vanessa; Desgeorges, Marie; Bareil, Corinne; Raynal, Caroline; Toga, Caroline; Pritchard, Victoria; Koenig, Michel; Claustres, Mireille; Vincent, Marie-Claire

    2015-02-01

    Analysis of circulating cell-free fetal DNA (cffDNA) in maternal plasma is very promising for early diagnosis of monogenic diseases. However, this approach is not yet available for routine use and remains technically challenging because of the low concentration of cffDNA, which is swamped by the overwhelming maternal DNA. To make clinical applications more readily accessible, we propose a new approach based on mutant enrichment with 3'-modified oligonucleotides (MEMO) PCR along with real-time PCR to selectively amplify from the maternal blood the paternally inherited fetal allele that is not present in the maternal genome. The first proof of concept of this strategy was displayed for cystic fibrosis by the accuracy of our detection of the p.Gly542* mutation used as the initial developmental model. Subsequently, a retrospective study of plasmas originating from two pregnant women carrying a fetus with private mutation confirmed the effectiveness of our method. We confirmed the presence of cffDNA in the studied samples by the identification of a tri-allelic DNA profile using a miniSTR kit. This new non-invasive prenatal diagnosis test offers numerous advantages over current methods: it is simple, cost effective, time efficient and does not require complex equipment or bioinformatics settings. Moreover, our assays for different private mutations demonstrate the viability of this approach in clinical settings for monogenic disorders.

  17. Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service.

    Directory of Open Access Journals (Sweden)

    Stephen Morris

    Full Text Available Non-invasive prenatal testing (NIPT for Down's syndrome (DS using cell free fetal DNA in maternal blood has the potential to dramatically alter the way prenatal screening and diagnosis is delivered. Before NIPT can be implemented into routine practice, information is required on its costs and benefits. We investigated the costs and outcomes of NIPT for DS as contingent testing and as first-line testing compared with the current DS screening programme in the UK National Health Service.We used a pre-existing model to evaluate the costs and outcomes associated with NIPT compared with the current DS screening programme. The analysis was based on a hypothetical screening population of 10,000 pregnant women. Model inputs were taken from published sources. The main outcome measures were number of DS cases detected, number of procedure-related miscarriages and total cost.At a screening risk cut-off of 1∶150 NIPT as contingent testing detects slightly fewer DS cases, has fewer procedure-related miscarriages, and costs the same as current DS screening (around UK£280,000 at a cost of £500 per NIPT. As first-line testing NIPT detects more DS cases, has fewer procedure-related miscarriages, and is more expensive than current screening at a cost of £50 per NIPT. When NIPT uptake increases, NIPT detects more DS cases with a small increase in procedure-related miscarriages and costs.NIPT is currently available in the private sector in the UK at a price of £400-£900. If the NHS cost was at the lower end of this range then at a screening risk cut-off of 1∶150 NIPT as contingent testing would be cost neutral or cost saving compared with current DS screening. As first-line testing NIPT is likely to produce more favourable outcomes but at greater cost. Further research is needed to evaluate NIPT under real world conditions.

  18. Study of noninvasive detection of latent fingerprints using UV laser

    Science.gov (United States)

    Li, Hong-xia; Cao, Jing; Niu, Jie-qing; Huang, Yun-gang; Mao, Lin-jie; Chen, Jing-rong

    2011-06-01

    Latent fingerprints present a considerable challenge in forensics, and noninvasive procedure that captures a digital image of the latent fingerprints is significant in the field of criminal investigation. The capability of photography technologies using 266nm UV Nd:YAG solid state laser as excitation light source to provide detailed images of unprocessed latent fingerprints is demonstrated. Unprocessed latent fingerprints were developed on various non-absorbent and absorbing substrates. According to the special absorption, reflection, scattering and fluorescence characterization of the various residues in fingerprints (fatty acid ester, protein, and carbosylic acid salts etc) to the UV light to weaken or eliminate the background disturbance and increase the brightness contrast of fingerprints with the background, and using 266nm UV laser as excitation light source, fresh and old latent fingerprints on the surface of four types of non-absorbent objects as magazine cover, glass, back of cellphone, wood desktop paintwork and two types of absorbing objects as manila envelope, notebook paper were noninvasive detected and appeared through reflection photography and fluorescence photography technologies, and the results meet the fingerprint identification requirements in forensic science.

  19. Routine noninvasive prenatal screening for fetal RHD in plasma of RhD-negative pregnant women-2years of screening experience from Denmark

    DEFF Research Database (Denmark)

    Clausen, F. Banch; Steffensen, R.; Christiansen, M.

    2014-01-01

    Objective: Prenatal and postnatal RhD prophylaxis reduces the risk of RhD immunization in pregnancies of RhD-negative women. Based on the result from prenatal screening for the fetal RHD gene, prenatal RhD prophylaxis in Denmark is targeted to RhD-negative women who carry an RhD-positive fetus...... of newborns in 12,668 pregnancies. Early compliance was assessed for 690 pregnancies. Results: The sensitivity for the detection of fetal RHD was 99.9% (95% CI: 99.7-99.9%). Unnecessary recommendation of prenatal RhD prophylaxis was avoided in 97.3% of the women carrying an RhD-negative fetus. Fetuses...... that were seropositive for RhD were not detected in 11 pregnancies (0.087%). The sample uptake percentage was 84.2%, and the compliance for prenatal anti-D administration was 93.2%. Conclusion: The high sensitivity, maintained over 2years, underlines the reliability of routine prenatal fetal RHD screening...

  20. Non-Invasive Prenatal Testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results

    DEFF Research Database (Denmark)

    Hartwig, Tanja S; Ambye, Louise; Werge, Lene

    2018-01-01

    OBJECTIVES: We have established an open source platform for non-invasive prenatal testing (NIPT) based on massively parallel whole-genome sequencing in a public setting. The objective of this study was to investigate factors of importance for correct interpretation of NIPT results to ensure a high...... sensitivity and specificity. STUDY DESIGN: This investigation is a retrospective case-control study performed in a public NIPT center. The study included 108 aneuploid cases and 165 euploid controls. MPS was performed on circulating cell-free DNA in maternal blood. The pipeline included automated library...

  1. Noninvasive detection of lung cancer by analysis of exhaled breath

    OpenAIRE

    Bajtarevic, Amel; Ager, Clemens; Pienz, Martin; Klieber, Martin; Schwarz, Konrad; Ligor, Magdalena; Ligor, Tomasz; Filipiak, Wojciech; Denz, Hubert; Fiegl, Michael; Hilbe, Wolfgang; Weiss, Wolfgang; Lukas, Peter; Jamnig, Herbert; Hackl, Martin

    2009-01-01

    Abstract Background Lung cancer is one of the leading causes of death in Europe and the western world. At present, diagnosis of lung cancer very often happens late in the course of the disease since inexpensive, non-invasive and sufficiently sensitive and specific screening methods are not available. Even though the CT diagnostic methods are good, it must be assured that "screening benefit outweighs risk, across all individuals screened, not only those with lung cancer". An early non-invasive...

  2. Challenges in the noninvasive detection of body composition using near-infrared spectroscopy

    Directory of Open Access Journals (Sweden)

    Wenliang Chen

    2014-11-01

    Full Text Available Noninvasive detection of body composition plays a significant role in the improvement of life quality and reduction in complications of the patients, and the near-infrared (NIR spectroscopy, with the advantages of painlessness and convenience, is considered as the most promising tool for the online noninvasive monitoring of body composition. However, quite different from other fields of online detection using NIR spectroscopy, such as food safety and environment monitoring, noninvasive detection of body composition demands higher precision of the instruments as well as more rigorousness of measurement conditions. Therefore, new challenges emerge when NIR spectroscopy is applied to the noninvasive detection of body composition, which, in this paper, are first concluded from the aspects of measurement methods, measurement conditions, instrument precision, multi-component influence, individual difference and novel weak-signal extraction method based on our previous research in the cutting-edge field of NIR noninvasive blood glucose detection. Moreover, novel ideas and approaches of our group to solve these problems are introduced, which may provide evidence for the future development of noninvasive blood glucose detection, and further contribute to the noninvasive detection of other body compositions using NIR spectroscopy.

  3. Velamentous Cord Insertion: Significance of Prenatal Detection to Predict Perinatal Complications

    Directory of Open Access Journals (Sweden)

    Junichi Hasegawa

    2006-03-01

    Full Text Available In the maternal and child health statistics of Japan for 2003, perinatal deaths were most frequent in pregnant women with abnormalities of the placenta, umbilical cord, and fetal membrane. Despite advances in perinatal medicine, approximately 2% of low-risk pregnant women still require an emergency cesarean section after the onset of labor. Because it is likely that half of these cases are associated with placental and umbilical cord abnormalities, it is thought that prenatal detection of such abnormalities would reduce the number of emergency cesarean sections in low-risk women. In our previous studies, some abnormalities of the placenta and umbilical cord were associated with abnormalities of cord insertion. Furthermore, we reported that prenatal detection of velamentous cord insertion (VCI reduced the number of emergency cesarean sections in low-risk women. In this review, we describe the prenatal detection of abnormalities of umbilical cord insertion and the management of VCI based on our current clinical data.

  4. Rapid Biolayer Interferometry Measurements of Urinary CXCL9 to Detect Cellular Infiltrates Noninvasively After Kidney Transplantation

    Directory of Open Access Journals (Sweden)

    Ilaria Gandolfini

    2017-11-01

    Discussion: Together, our proof-of-principle results demonstrate that BLI-based urinary CXCL9 detection has potential as a point-of-care noninvasive biomarker to diagnose and guide therapy for ACR in kidney transplantation recipients.

  5. Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening

    DEFF Research Database (Denmark)

    Jørgensen, Ditte E S; Vejlstrup, Niels; Jørgensen, Connie

    2015-01-01

    OBJECTIVES: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS: Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed...

  6. Alteration in follistatin gene expression detected in prenatally androgenized rats.

    Science.gov (United States)

    Salehi Jahromi, Marziyeh; Ramezani Tehrani, Fahimeh; Hill, Jennifer W; Noroozzadeh, Mahsa; Zarkesh, Maryam; Ghasemi, Asghar; Zadeh-Vakili, Azita

    2017-06-01

    Impaired ovarian follicle development, the hallmark of polycystic ovarian syndrome (PCOS), is believed to be due to the changes in expression of related genes such as follistatin (FST). Expression of FST gene and methylation level of its promoter in theca cells from adult female rats, prenatally exposed to androgen excess, during different phases of the estrus cycle was determined and compared with controls. Eight pregnant Wistar rats (experimental group) were treated by subcutaneous injection of 5 mg free testosterone on day 20 of pregnancy, while controls (n = 8) received 500 ml solvent. Based on observed vaginal smear, adult female offspring of mothers were divided into three groups. Levels of serum steroidogenic sexual hormones and gonadotropins, expression and promoter methylation of the FST gene were measured using ELISA, cyber-green real-time PCR and bisulfite sequence PCR (BSP), respectively. Compared to controls, the relative expression of FST gene in the treated group decreased overall by 0.85 fold; despite significant changes in different phases, but no significant differences in methylation of FST promoter. Our results reveal that manifestation of PCOS-like phenotype following prenatal exposure to excess androgen is associated with irregularity in expression of the FST gene during the estrus cycle.

  7. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma

    NARCIS (Netherlands)

    Chitty, L. S.; Griffin, D. R.; Meaney, C.; Barrett, A.; Khalil, A.; Pajkrt, E.; Cole, T. J.

    2011-01-01

    To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in maternal plasma. Data on fetuses with a confirmed

  8. A prenatally detected adrenal cyst treated by adrenal-sparing surgery

    African Journals Online (AJOL)

    A neonatal case of left adrenal cyst detected in utero and successfully treated by adrenal-sparing surgery is presented and discussed with review of the literature. Incidentally discovered prenatal adrenal masses present a diagnostic dilemma. Benign and malignant conditions can present as a fetal suprarenal mass. There is ...

  9. Outcome for Fetuses with Prenatally Detected Congenital Heart Disease and Cardiac Arrhythmias in Taiwan

    Directory of Open Access Journals (Sweden)

    Sheng-Mou Hsiao

    2007-01-01

    Conclusion: Outcome for fetuses with prenatally detected CHD remains poor, with the prognosis negatively influenced by the presence of complex heart defects as well as extracardiac and chromosomal anomalies. However, prognosis is good for fetuses with cardiac arrhythmia, except with long QT syndrome or hydrops fetalis.

  10. Vesico-ureteral reflux in children with prenatally detected hydronephrosis: a systematic review

    NARCIS (Netherlands)

    van Eerde, A. M.; Meutgeert, M. H.; de Jong, T. P. V. M.; Giltay, J. C.

    2007-01-01

    To investigate the value of prenatally detected hydronephrosis (PNH) as a prognostic factor for vesico-ureteral reflux (VUR). The MEDLINE database was searched for articles on PNH and VUR published between 1980 and 2004. A total of 18 studies were identified and reviewed for various aspects. Results

  11. Neonatal and early infancy management of prenatally detected hydronephrosis.

    Science.gov (United States)

    Swords, Kelly A; Peters, Craig A

    2015-09-01

    Hydronephrosis discovered during prenatal ultrasound will often resolve spontaneously; however, it should be evaluated in the postnatal period in a manner commensurate with its risk of renal injury. Early intervention is appropriate in cases of bladder outlet obstruction or the severely obstructed solitary kidney. In most other cases, it is both safe and reasonable to allow the possibility of spontaneous improvement with the intensity of follow-up based on the severity of the hydronephrosis. Clinical decision making should be a shared process between families and caregivers. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  12. Decision-making for non-invasive prenatal testing for Down syndrome: Hong Kong Chinese women's preferences for individual vs relational autonomy.

    Science.gov (United States)

    Lau, J Y C; Yi, H; Ahmed, S

    2016-05-01

    Individual autonomy in antenatal screening is internationally recognized and supported. Policy and practice guidelines in various countries place emphasis on the woman's right to make her own decision and are related to concepts such as self-determination, independence, and self-sufficiency. In contrast, the dominant perspective in Chinese medical ethics suggests that the family is pivotal in making medical decisions, hence providing support for relational autonomy. This study explored Hong Kong Chinese pregnant women's preferences for individual vs relational autonomy for non-invasive prenatal testing (NIPT) for Down syndrome. A qualitative study was carried out using semi-structured interviews with 36 women who had undertaken NIPT in Hong Kong. The findings show that most Hong Kong Chinese women valued aspects of both relational and individual autonomy in decision-making for NIPT. Women expected support from doctors as experts on the topic and wanted to involve their husband in decision-making while retaining control over the outcome. Somewhat surprisingly, the findings do not provide support for the involvement of family members in decision-making for NIPT. The adequacy of current interpretations of autonomy in prenatal testing policies as an individual approach needs discussion, where policy developers need to find a balance between individual and relational approaches. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Noninvasive detection of temozolomide in brain tumor xenografts by magnetic resonance spectroscopy

    DEFF Research Database (Denmark)

    Kato, Y.; Holm, David Alberg; Okollie, B.

    2010-01-01

    demonstrate partial breakdown of the BBB/BTB and good vascularization in U87MG xenografts. A [C-13] TMZ peak was detected at 3.9 ppm by HMQC from a selected volume of about 0.15 cm(3) within the brain tumor with HMQC pulse sequences. This study clearly demonstrates the noninvasive detection of [C-13]TMZ...

  14. Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure.

    Science.gov (United States)

    Suttie, Michael; Wetherill, Leah; Jacobson, Sandra W; Jacobson, Joseph L; Hoyme, H Eugene; Sowell, Elizabeth R; Coles, Claire; Wozniak, Jeffrey R; Riley, Edward P; Jones, Kenneth L; Foroud, Tatiana; Hammond, Peter

    2017-08-01

    Our objective is to help clinicians detect the facial effects of prenatal alcohol exposure by developing computer-based tools for screening facial form. All 415 individuals considered were evaluated by expert dysmorphologists and categorized as (i) healthy control (HC), (ii) fetal alcohol syndrome (FAS), or (iii) heavily prenatally alcohol exposed (HE) but not clinically diagnosable as FAS; 3D facial photographs were used to build models of facial form to support discrimination studies. Surface curvature-based delineations of facial form were introduced. (i) Facial growth in FAS, HE, and control subgroups is similar in both cohorts. (ii) Cohort consistency of agreement between clinical diagnosis and HC-FAS facial form classification is lower for midline facial regions and higher for nonmidline regions. (iii) Specific HC-FAS differences within and between the cohorts include: for HC, a smoother philtrum in Cape Coloured individuals; for FAS, a smoother philtrum in Caucasians; for control-FAS philtrum difference, greater homogeneity in Caucasians; for control-FAS face difference, greater homogeneity in Cape Coloured individuals. (iv) Curvature changes in facial profile induced by prenatal alcohol exposure are more homogeneous and greater in Cape Coloureds than in Caucasians. (v) The Caucasian HE subset divides into clusters with control-like and FAS-like facial dysmorphism. The Cape Coloured HE subset is similarly divided for nonmidline facial regions but not clearly for midline structures. (vi) The Cape Coloured HE subset with control-like facial dysmorphism shows orbital hypertelorism. Facial curvature assists the recognition of the effects of prenatal alcohol exposure and helps explain why different facial regions result in inconsistent control-FAS discrimination rates in disparate ethnic groups. Heavy prenatal alcohol exposure can give rise to orbital hypertelorism, supporting a long-standing suggestion that prenatal alcohol exposure at a particular time causes

  15. Karyotyping or rapid aneuploidy detection in prenatal diagnosis? The different views of users and providers of prenatal care

    NARCIS (Netherlands)

    Boormans, E. M. A.; Birnie, E.; Bilardo, C. M.; Oepkes, D.; Bonsel, G. J.; van Lith, J. M. M.

    2009-01-01

    Developments in prenatal diagnosis raise the question which test strategy should be implemented. However, preferences of women and caregivers are underexposed. This study investigates what kind of prenatal test pregnant women and caregivers prefer and if differences between the groups exist, using

  16. Left coronary arterial blood flow: Noninvasive detection by Doppler US

    International Nuclear Information System (INIS)

    Gramiak, R.; Holen, J.; Moss, A.J.; Gutierrez, O.H.; Picone, A.L.; Roe, S.A.

    1986-01-01

    Continuous wave (CW) and pulsed Doppler ultrasound studies with spectral analysis were used to detect the left coronary arterial blood flow in patients who were undergoing routine echocardiography. The pulmonary artery is a stable ultrasonic landmark from which detection of the blood flow can be effected. The left coronary artery can be distinguished by its blood flow toward the cardiac apex and by specific, functional flow features. Flow patterns vary among the left main, circumflex, and anterior descending arteries; patterns also vary with respiration cycles. In the present study, coronary arterial blood flow was detected in 58 of 70 patients (83%). Findings were validated by selectively injecting an agitated saline contrast medium into the left coronary artery and, in another study, by comparing human Doppler phasic flow waveforms with electromagnetic flowmeter recordings obtained in dogs

  17. Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

    Science.gov (United States)

    Li, Lu; Douville, Christopher; Wang, Yuxuan; Cohen, Joshua David; Taheri, Diana; Silliman, Natalie; Schaefer, Joy; Ptak, Janine; Dobbyn, Lisa; Papoli, Maria; Kinde, Isaac; Afsari, Bahman; Tregnago, Aline C; Bezerra, Stephania M; VandenBussche, Christopher; Fujita, Kazutoshi; Ertoy, Dilek; Cunha, Isabela W; Yu, Lijia; Bivalacqua, Trinity J; Grollman, Arthur P; Diaz, Luis A; Karchin, Rachel; Danilova, Ludmila; Huang, Chao-Yuan; Shun, Chia-Tung; Turesky, Robert J; Yun, Byeong Hwa; Rosenquist, Thomas A; Pu, Yeong-Shiau; Hruban, Ralph H; Tomasetti, Cristian; Papadopoulos, Nickolas; Kinzler, Ken W

    2018-01-01

    Current non-invasive approaches for detection of urothelial cancers are suboptimal. We developed a test to detect urothelial neoplasms using DNA recovered from cells shed into urine. UroSEEK incorporates massive parallel sequencing assays for mutations in 11 genes and copy number changes on 39 chromosome arms. In 570 patients at risk for bladder cancer (BC), UroSEEK was positive in 83% of those who developed BC. Combined with cytology, UroSEEK detected 95% of patients who developed BC. Of 56 patients with upper tract urothelial cancer, 75% tested positive by UroSEEK, including 79% of those with non-invasive tumors. UroSEEK detected genetic abnormalities in 68% of urines obtained from BC patients under surveillance who demonstrated clinical evidence of recurrence. The advantages of UroSEEK over cytology were evident in low-grade BCs; UroSEEK detected 67% of cases whereas cytology detected none. These results establish the foundation for a new non-invasive approach for detection of urothelial cancer. PMID:29557778

  18. A prenatally detected adrenal cyst treated by adrenal-sparing ...

    African Journals Online (AJOL)

    Ahmet Dursun and Munevver Ho ¸sgo¨ r. A neonatal case of left adrenal cyst detected in utero and ... Correspondence to Munevver Ho ¸sgör, MD, PhD, Department II of Pediatric. Surgery, Dr Behcet Uz Children's Hospital, Koruturk Mh. ..... Radiology 1986; 161:631–633. 13 Erbil Y, Salmasliog˘lu A, Barbaros U, Bozbora A, ...

  19. Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Ozge Ozalp Yuregir

    2012-02-01

    Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

  20. Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

    Science.gov (United States)

    Drury, Suzanne; Mason, Sarah; McKay, Fiona; Lo, Kitty; Boustred, Christopher; Jenkins, Lucy; Chitty, Lyn S

    2016-01-01

    Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches. Validation and diagnostic implementation for NIPD of congenital adrenal hyperplasia (CAH) is further complicated by presence of a pseudogene that requires a different approach. We have used an assay targeting approximately 6700 heterozygous SNPs around the CAH gene (CYP21A2) to construct the high-risk parental haplotypes and tested this approach in five cases, showing that inheritance of the parental alleles can be correctly identified using NIPD. We are evaluating various measures of the fetal fraction to help determine inheritance of parental mutations. We are currently exploring the utility of an NIPD multi-disorder panel for autosomal recessive disease, to make testing more widely applicable to families with a variety of serious genetic conditions.

  1. Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand.

    Science.gov (United States)

    Filoche, Sara; Cram, Fiona; Lawton, Bev; Beard, Angela; Stone, Peter

    2017-10-04

    Non-invasive prenatal testing (NIPT) is a relatively new screen for congenital conditions - specifically, common fetal aneuploidies including Down Syndrome. The test is based on isolating freely circulating fragments of fetal-placental DNA that is present in the mother's blood. NIPT has a superior clinical performance compared to current screening, and has been available privately in Aotearoa New Zealand for the last 4 years. The proposed implementation of NIPT as a publicly funded service may widen the inequity in access to optional antenatal screening that already exists in this country. This paper discusses precautions that can be taken at the health system, organisation, and personnel levels to ensure that access to NIPT is equitable, that services are culturally responsive, and women's informed choice is promoted and protected. The adoption of NIPT into publicly funded services is an example of how genetic screening is becoming mainstreamed into health services; as such our approach may also have relevance around the introduction of other genetic and genomic screening initiatives.

  2. The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform.

    Directory of Open Access Journals (Sweden)

    Young Joo Jeon

    Full Text Available OBJECTIVE: Recent non-invasive prenatal testing (NIPT technologies are based on next-generation sequencing (NGS. NGS allows rapid and effective clinical diagnoses to be determined with two common sequencing systems: Illumina and Ion Torrent platforms. The majority of NIPT technology is associated with Illumina platform. We investigated whether fetal trisomy 18 and 21 were sensitively and specifically detectable by semiconductor sequencer: Ion Proton. METHODS: From March 2012 to October 2013, we enrolled 155 pregnant women with fetuses who were diagnosed as high risk of fetal defects at Xiamen Maternal & Child Health Care Hospital (Xiamen, Fujian, China. Adapter-ligated DNA libraries were analyzed by the Ion Proton™ System (Life Technologies, Grand Island, NY, USA with an average 0.3× sequencing coverage per nucleotide. Average total raw reads per sample was 6.5 million and mean rate of uniquely mapped reads was 59.0%. The results of this study were derived from BWA mapping. Z-score was used for fetal trisomy 18 and 21 detection. RESULTS: Interactive dot diagrams showed the minimal z-score values to discriminate negative versus positive cases of fetal trisomy 18 and 21. For fetal trisomy 18, the minimal z-score value of 2.459 showed 100% positive predictive and negative predictive values. The minimal z-score of 2.566 was used to classify negative versus positive cases of fetal trisomy 21. CONCLUSION: These results provide the evidence that fetal trisomy 18 and 21 detection can be performed with semiconductor sequencer. Our data also suggest that a prospective study should be performed with a larger cohort of clinically diverse obstetrics patients.

  3. Application of proteomics for prenatal diagnosis of Down syndrome ...

    African Journals Online (AJOL)

    use

    2011-12-14

    Dec 14, 2011 ... Proteome Organization (HUPO) in 2001, proteomic developed rapidly ... reports showed the hopes of the development of effective non-invasive ... This systematic review and meta-analysis was conducted according to a protocol ..... long-term culture for a case of trisomy 18 detected in CVS. Prenat. Diagn.

  4. Cell-free nucleic acids as noninvasive biomarkers for colorectal cancer detection

    KAUST Repository

    Mansour, Hicham

    2014-08-27

    Cell-free nucleic acids (CFNA) have been reported by several authors in blood, stool, and urine of patients with colorectal cancer (CRC). These genetic biomarkers can be an indication of neoplastic colorectal epithelial cells, and can thus potentially be used as noninvasive tests for the detection of the disease in CRC patients and monitor their staging, without the need to use heavier and invasive tools. In a number of test-trials, these genetic tests have shown the advantage of non-invasiveness, making them well accepted by most of the patients, without major side effects. They have also shown a promising sensitivity and specificity in the detection of malignant and premalignant neoplasms. Moreover, costs for performing such tests are very low. Several studies reported and confirmed the proof of the principle for these genetic tests for screening, diagnosis, and prognosis; the main challenge of translating this approach from research to clinical laboratory is the validation from large and long-term randomized trials to prove sustainable high sensitivity and specificity. In this paper, we present a review on the noninvasive genetics biomarkers for CRC detection described in the literature and the challenges that can be encountered for validation processes.

  5. Cell-free nucleic acids as noninvasive biomarkers for colorectal cancer detection

    KAUST Repository

    Mansour, Hicham

    2014-01-01

    Cell-free nucleic acids (CFNA) have been reported by several authors in blood, stool, and urine of patients with colorectal cancer (CRC). These genetic biomarkers can be an indication of neoplastic colorectal epithelial cells, and can thus potentially be used as noninvasive tests for the detection of the disease in CRC patients and monitor their staging, without the need to use heavier and invasive tools. In a number of test-trials, these genetic tests have shown the advantage of non-invasiveness, making them well accepted by most of the patients, without major side effects. They have also shown a promising sensitivity and specificity in the detection of malignant and premalignant neoplasms. Moreover, costs for performing such tests are very low. Several studies reported and confirmed the proof of the principle for these genetic tests for screening, diagnosis, and prognosis; the main challenge of translating this approach from research to clinical laboratory is the validation from large and long-term randomized trials to prove sustainable high sensitivity and specificity. In this paper, we present a review on the noninvasive genetics biomarkers for CRC detection described in the literature and the challenges that can be encountered for validation processes.

  6. Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study.

    Science.gov (United States)

    Oxenford, Kerry; Daley, Rebecca; Lewis, Celine; Hill, Melissa; Chitty, Lyn S

    2017-04-27

    The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of this study was to develop and evaluate a training package for health professionals to support the introduction of NIPT into clinical practice. Training on NIPT was offered to health professionals, primarily midwives, involved in Down syndrome screening and testing in eight hospitals located in England and Scotland as part of a research study evaluating the implementation of NIPT in the UK National Health Service. Training was evaluated using a mixed methods approach that included quantitative questionnaires at three time points and post-training qualitative interviews. The questionnaires measured confidence, self-perceived knowledge and actual knowledge about NIPT for Down syndrome. Interviews explored opinions about the training and experiences of offering NIPT. The training provided to the health professionals was found to positively impact on their confidence in discussing NIPT with women in their clinic, and both their perceived and actual knowledge and understanding of NIPT was improved. Knowledge remained weak in four areas; cell-free fetal DNA levels increase with gestation; turnaround time for NIPT results; cell-free fetal DNA is placental in origin; and NIPT false positive rate. Training materials, including a lesson plan, PowerPoint presentation and written factsheet on NIPT, have been developed and evaluated for use in educating midwives and supporting the introduction of NIPT. Implementation of training should include a greater focus on the areas where knowledge remained low. Some groups of midwives will need additional training or support to optimise their confidence in discussing NIPT with women.

  7. Non-invasive electrocardiogram detection of in vivo zebrafish embryos using electric potential sensors

    Science.gov (United States)

    Rendon-Morales, E.; Prance, R. J.; Prance, H.; Aviles-Espinosa, R.

    2015-11-01

    In this letter, we report the continuous detection of the cardiac electrical activity in embryonic zebrafish using a non-invasive approach. We present a portable and cost-effective platform based on the electric potential sensing technology, to monitor in vivo electrocardiogram activity from the zebrafish heart. This proof of principle demonstration shows how electrocardiogram measurements from the embryonic zebrafish may become accessible by using electric field detection. We present preliminary results using the prototype, which enables the acquisition of electrophysiological signals from in vivo 3 and 5 days-post-fertilization zebrafish embryos. The recorded waveforms show electrocardiogram traces including detailed features such as QRS complex, P and T waves.

  8. Non-invasive brain stimulation in the detection of deception: scientific challenges and ethical consequences.

    Science.gov (United States)

    Luber, Bruce; Fisher, Carl; Appelbaum, Paul S; Ploesser, Marcus; Lisanby, Sarah H

    2009-01-01

    Tools for noninvasive stimulation of the brain, such as transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), have provided new insights in the study of brain-behavior relationships due to their ability to directly alter cortical activity. In particular, TMS and tDCS have proven to be useful tools for establishing causal relationships between behavioral and brain imaging measures. As such, there has been interest in whether these tools may represent novel technologies for deception detection by altering a person's ability to engage brain networks involved in conscious deceit. Investigation of deceptive behavior using noninvasive brain stimulation is at an early stage. Here we review the existing literature on the application of noninvasive brain stimulation in the study of deception. Whether such approaches could be usefully applied to the detection of deception by altering a person's ability to engage brain networks involved in conscious deceit remains to be validated. Ethical and legal consequences of the development of such a technology are discussed. Copyright 2009 John Wiley & Sons, Ltd.

  9. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

    Science.gov (United States)

    Petersen, Andrea K; Cheung, Sau Wai; Smith, Janice L; Bi, Weimin; Ward, Patricia A; Peacock, Sandra; Braxton, Alicia; Van Den Veyver, Ignatia B; Breman, Amy M

    2017-12-01

    Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management. The objective of this study was to determine the positive predictive value and false-positive rates for different chromosomal abnormalities identified by cell-free fetal DNA screening using a large data set of diagnostic testing results on invasive samples submitted to the laboratory for confirmatory studies. We tested 712 patient samples sent to our laboratory to confirm a cell-free fetal DNA screening result, indicating high risk for a chromosome abnormality. We compiled data from all cases in which the indication for confirmatory testing was a positive cell-free fetal DNA screen, including the common trisomies, sex chromosomal aneuploidies, microdeletion syndromes, and other large genome-wide copy number abnormalities. Testing modalities included fluorescence in situ hybridization, G-banded karyotype, and/or chromosomal microarray analysis performed on chorionic villus samples, amniotic fluid, or postnatally obtained blood samples. Positive predictive values and false-positive rates were calculated from tabulated data. The positive predictive values for trisomy 13, 18, and 21 were consistent with previous reports at 45%, 76%, and 84%, respectively. For the microdeletion syndrome regions, positive predictive values ranged from 0% for detection of Cri-du-Chat syndrome and Prader-Willi/Angelman syndrome to 14% for 1p36 deletion

  10. Toward noninvasive detection and monitoring of malaria with broadband diffuse optical spectroscopy

    Science.gov (United States)

    Campbell, Chris; Tromberg, Bruce J.; O'Sullivan, Thomas D.

    2018-02-01

    Despite numerous advances, malaria continues to kill nearly half a million people globally every year. New analytical methods and diagnostics are critical to understanding how treatments under development affect the lifecycle of malaria parasites. A biomarker that has been gaining interest is the "malaria pigment" hemozoin. This byproduct of hemoglobin digestion by the parasite has a unique spectral signature but is difficult to differentiate from hemoglobin and other tissue chromophores. Hemozoin can be detected in blood samples, but only utilizing approaches that require specialized training and facilities. Diffuse optical spectroscopy (DOS) is a noninvasive sensing technique that is sensitive to near-infrared absorption and scattering and capable of probing centimeter-deep volumes of tissue in vivo. DOS is relatively low-cost, does not require specialized training and thus potentially suitable for use in low-resource settings. In this work, we assess the potential of DOS to detect and quantify the presence of hemozoin noninvasively and at physiologically relevant levels. We suspended synthetic hemozoin in Intralipid-based tissue-simulating phantoms in order to mimic malaria infection in multiply-scattering tissue. Using a fiber probe that combines frequency-domain and continuous-wave broadband DOS (650-1000 nm), we detected hemozoin concentrations below 250 ng/ml, which corresponds to parasitemia sensitivities comparable to modern rapid diagnostic tests. We used the experimental variability to simulate and estimate the sensitivity of DOS to hemozoin in tissue that includes hemoglobin, water, and lipid under various tissue oxygen saturation levels. The results indicate that with increased precision, it may be possible to detect Hz noninvasively with DOS.

  11. The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing : A randomised controlled trial

    NARCIS (Netherlands)

    Beulen, Lean; Van Den Berg, Michelle; Faas, Brigitte Hw; Feenstra, Ilse; Hageman, Michiel; Van Vugt, John Mg; Bekker, Mireille N.

    2016-01-01

    Early in pregnancy women and their partners face the complex decision on whether or not to participate in prenatal testing for fetal chromosomal abnormalities. Several studies show that the majority of pregnant women currently do not make informed decisions regarding prenatal testing. As the range

  12. UWB based low-cost and non-invasive practical breast cancer early detection

    Science.gov (United States)

    Vijayasarveswari, V.; Khatun, S.; Fakir, M. M.; Jusoh, M.; Ali, S.

    2017-03-01

    Breast cancer is one of the main causes of women death worldwide. Breast tumor is an early stage of cancer that locates in cells of a human breast. As there is no remedy, early detection is crucial. Towards this, Ultra-Wideband (UWB) is a prominent candidate. It is a wireless communication technology which can achieve high bandwidth with low power utilization. UWB is suitable to be used for short range communication systems including breast cancer detection since it is secure, non-invasive and human health friendly. This paper presents the low-cost and non-invasive early breast cancer detection strategy using UWB sensor (or antenna). Emphasis is given here to detect breast tumor in 2D and 3D environments. The developed system consisted of hardware and software. Hardware included UWB transceiver and a pair of home-made directional sensor/antenna. The software included feed-forward back propagation Neural Network (NN) module to detect the tumor existence, size and location along with soft interface between software and hardware. Forward scattering technique was used by placing two sensors diagonally opposite sides of a breast phantom. UWB pulses were transmitted from one side of phantom and received from other side, controlled by the software interface in PC environment. Collected received signals were then fed into the NN module for training, testing and validation. The system exhibited detection efficiency on tumor existence, location (x, y, z), and size were approximately 100%, (78.17%, 70.66%, 92.46%), 85.86% respectively. The proposed UWB based early breast cancer detection system could be more practical with low-cost, user friendly and non-harmful features. This project may help users to monitor their breast health regularly at their home.

  13. Noninvasive detection of regional myocardial perfusion abnormality with /sup 201/Tl and /sup 81/Rb

    Energy Technology Data Exchange (ETDEWEB)

    Narita, M; Usami, M; Kurihara, T; Kawararadani, H; Kanao, K

    1977-05-01

    Myocardial scintigrams were performed at rest and during exercise using /sup 201/Tl and /sup 81/Rb. Patients underwent graded ergometer exercise stress tests. In normals, myocardial images were horse-shoe or O-shaped and concentration of radionuclide was relatively uniform throughout the myocardium. In 13 patients with old myocardial infarctions, and abnormal Q waves, regional myocardial perfusion defects (cold area) were detected. Their locations correlated with sites of the abnormal Q waves. Two patients had no abnormal Q waves at the examination, but their scintigrams showed cold areas, the locations of which coincided with coronary angiographic findings. Exercise stress ECG and stress scintigrams were performed. Myocardial perfusion defects, which developed from exercise stress, were detected in 9 of 10 positive exercise ECG patients, 2 of 4 equivocal exercise ECG patients, and 2 of 10 negative exercise ECG patients. These 2 patients (exercise ECG (-), stress scintigram (+)) had typical angina. Findings of exercise stress scintigrams coincided better with clinical findings than did those of exercise ECG. These scintigraphic methods appear to be excellent for detection of noninvasive coronary heart disease noninvasively.

  14. Non-invasive optical detection of HBV based on serum surface-enhanced Raman spectroscopy

    Science.gov (United States)

    Zheng, Zuci; Wang, Qiwen; Weng, Cuncheng; Lin, Xueliang; Lin, Yao; Feng, Shangyuan

    2016-10-01

    An optical method of surface-enhanced Raman spectroscopy (SERS) was developed for non-invasive detection of hepatitis B surface virus (HBV). Hepatitis B virus surface antigen (HBsAg) is an established serological marker that is routinely used for the diagnosis of acute or chronic hepatitis B virus(HBV) infection. Utilizing SERS to analyze blood serum for detecting HBV has not been reported in previous literature. SERS measurements were performed on two groups of serum samples: one group for 50 HBV patients and the other group for 50 healthy volunteers. Blood serum samples are collected from healthy control subjects and patients diagnosed with HBV. Furthermore, principal components analysis (PCA) combined with linear discriminant analysis (LDA) were employed to differentiate HBV patients from healthy volunteer and achieved sensitivity of 80.0% and specificity of 74.0%. This exploratory work demonstrates that SERS serum analysis combined with PCA-LDA has tremendous potential for the non-invasive detection of HBV.

  15. Noninvasive presymptomatic detection of Cercospora beticola infection and identification of early metabolic responses in sugar beet

    Directory of Open Access Journals (Sweden)

    Hans-Peter Mock

    2016-09-01

    Full Text Available Cercospora beticola is an economically significant fungal pathogen of sugar beet, and is the causative pathogen of Cercospora leaf spot. Selected host genotypes with contrasting degree of susceptibility to the disease have been exploited to characterize the patterns of metabolite responses to fungal infection, and to devise a pre-symptomatic, non-invasive method of detecting the presence of the pathogen. Sugar beet genotypes were analyzed for metabolite profiles and hyperspectral signatures. Correlation of data matrices from both approaches facilitated identification of candidates for metabolic markers. Hyperspectral imaging was highly predictive with a classification accuracy of 98.5-99.9 % in detecting C. beticola. Metabolite analysis revealed metabolites altered by the host as part of a successful defence response: these were L-DOPA, 12-hydroxyjasmonic acid 12-O-β-D-glucoside, pantothenic acid and 5-O-feruloylquinic acid. The accumulation of glucosylvitexin in the resistant cultivar suggests it acts as a constitutively-produced protectant. The study establishes a proof-of-concept for an unbiased, presymptomatic and non-invasive detection system for the presence of C. beticola. The test needs to be validated with a larger set of genotypes, to be scalable to the level of a crop improvement program, aiming to speed up the selection for resistant cultivars of sugar beet. Untargeted metabolic profiling is a valuable tool to identify metabolites which correlate with hyperspectral data.

  16. Novel Noninvasive Brain Disease Detection System Using a Facial Image Sensor

    Directory of Open Access Journals (Sweden)

    Ting Shu

    2017-12-01

    Full Text Available Brain disease including any conditions or disabilities that affect the brain is fast becoming a leading cause of death. The traditional diagnostic methods of brain disease are time-consuming, inconvenient and non-patient friendly. As more and more individuals undergo examinations to determine if they suffer from any form of brain disease, developing noninvasive, efficient, and patient friendly detection systems will be beneficial. Therefore, in this paper, we propose a novel noninvasive brain disease detection system based on the analysis of facial colors. The system consists of four components. A facial image is first captured through a specialized sensor, where four facial key blocks are next located automatically from the various facial regions. Color features are extracted from each block to form a feature vector for classification via the Probabilistic Collaborative based Classifier. To thoroughly test the system and its performance, seven facial key block combinations were experimented. The best result was achieved using the second facial key block, where it showed that the Probabilistic Collaborative based Classifier is the most suitable. The overall performance of the proposed system achieves an accuracy −95%, a sensitivity −94.33%, a specificity −95.67%, and an average processing time (for one sample of <1 min at brain disease detection.

  17. Non-invasive method for screening and early detection of breast tumors using thermal field analysis

    Directory of Open Access Journals (Sweden)

    O. Drosu

    2009-10-01

    Full Text Available The paper refers to general presentation of international and European evaluation regarding breast cancer incidence and mortality as well as recommendations for prevention, screening, detection and treatment.The past years international research development in biomedical engineering has put a particular emphasis on the thermography use in breast pathology diagnosis and its main advantages, such as: an early diagnose of the breast cancer, in that stage when the mammography or ultrasounds can not easily detect the changes of the tissue; a totally non-invasive interaction with human body; very low costs and possibilities for the women to do a self thermographic test.We also present some important results of our research within the field of breast tumor detection using the numerical analysis of the thermal inverse problem.

  18. Grizzly Bear Noninvasive Genetic Tagging Surveys: Estimating the Magnitude of Missed Detections.

    Directory of Open Access Journals (Sweden)

    Jason T Fisher

    Full Text Available Sound wildlife conservation decisions require sound information, and scientists increasingly rely on remotely collected data over large spatial scales, such as noninvasive genetic tagging (NGT. Grizzly bears (Ursus arctos, for example, are difficult to study at population scales except with noninvasive data, and NGT via hair trapping informs management over much of grizzly bears' range. Considerable statistical effort has gone into estimating sources of heterogeneity, but detection error-arising when a visiting bear fails to leave a hair sample-has not been independently estimated. We used camera traps to survey grizzly bear occurrence at fixed hair traps and multi-method hierarchical occupancy models to estimate the probability that a visiting bear actually leaves a hair sample with viable DNA. We surveyed grizzly bears via hair trapping and camera trapping for 8 monthly surveys at 50 (2012 and 76 (2013 sites in the Rocky Mountains of Alberta, Canada. We used multi-method occupancy models to estimate site occupancy, probability of detection, and conditional occupancy at a hair trap. We tested the prediction that detection error in NGT studies could be induced by temporal variability within season, leading to underestimation of occupancy. NGT via hair trapping consistently underestimated grizzly bear occupancy at a site when compared to camera trapping. At best occupancy was underestimated by 50%; at worst, by 95%. Probability of false absence was reduced through successive surveys, but this mainly accounts for error imparted by movement among repeated surveys, not necessarily missed detections by extant bears. The implications of missed detections and biased occupancy estimates for density estimation-which form the crux of management plans-require consideration. We suggest hair-trap NGT studies should estimate and correct detection error using independent survey methods such as cameras, to ensure the reliability of the data upon which species

  19. Grizzly Bear Noninvasive Genetic Tagging Surveys: Estimating the Magnitude of Missed Detections.

    Science.gov (United States)

    Fisher, Jason T; Heim, Nicole; Code, Sandra; Paczkowski, John

    2016-01-01

    Sound wildlife conservation decisions require sound information, and scientists increasingly rely on remotely collected data over large spatial scales, such as noninvasive genetic tagging (NGT). Grizzly bears (Ursus arctos), for example, are difficult to study at population scales except with noninvasive data, and NGT via hair trapping informs management over much of grizzly bears' range. Considerable statistical effort has gone into estimating sources of heterogeneity, but detection error-arising when a visiting bear fails to leave a hair sample-has not been independently estimated. We used camera traps to survey grizzly bear occurrence at fixed hair traps and multi-method hierarchical occupancy models to estimate the probability that a visiting bear actually leaves a hair sample with viable DNA. We surveyed grizzly bears via hair trapping and camera trapping for 8 monthly surveys at 50 (2012) and 76 (2013) sites in the Rocky Mountains of Alberta, Canada. We used multi-method occupancy models to estimate site occupancy, probability of detection, and conditional occupancy at a hair trap. We tested the prediction that detection error in NGT studies could be induced by temporal variability within season, leading to underestimation of occupancy. NGT via hair trapping consistently underestimated grizzly bear occupancy at a site when compared to camera trapping. At best occupancy was underestimated by 50%; at worst, by 95%. Probability of false absence was reduced through successive surveys, but this mainly accounts for error imparted by movement among repeated surveys, not necessarily missed detections by extant bears. The implications of missed detections and biased occupancy estimates for density estimation-which form the crux of management plans-require consideration. We suggest hair-trap NGT studies should estimate and correct detection error using independent survey methods such as cameras, to ensure the reliability of the data upon which species management and

  20. Characterisation of a novel transmission Raman spectroscopy platform for non-invasive detection of breast micro-calcifications

    Science.gov (United States)

    Ghita, Adrian; Matousek, Pavel; Stone, Nick

    2018-02-01

    Our work focuses on the development of a medical Raman spectroscopy based platform to non-invasively detect and determine in-vivo molecular information deep inside biological tissues by monitoring the chemical composition of breast calcifications. The ultimate goal is to replace a needle biopsy which typically follows the detection of an abnormality in mammographic images. Here we report the non-invasive detection of calcium oxalate monohydrate in tissue through 40 mm of phantom tissues using our recently developed advanced Raman instrument complementing our previous detection of calcium hydroxyapatite through this thickness of tissue. The ability to detect these two key types of calcifications opens avenues for the development of non-invasive in-vivo breast cancer diagnostic tool in the future.

  1. Cell-free fetal DNA in maternal plasma and noninvasive prenatal diagnosis DNA fetal libre en el plasma materno y diagnóstico prenatal no invasivo DNA livre fetal em plasma materno e diagnóstico pré-natal não invasivo

    Directory of Open Access Journals (Sweden)

    Ester Silveira Ramos

    2006-12-01

    Full Text Available The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells detected in the maternal circulation have also been shown to be implicated in autoimmune diseases and to represent a potential source of stem cells. On the other hand, with the introduction of a technology that detects the fetal sex as early as at 6-8 weeks of gestation, there is the possibility of early abortion based on sex selection for social purposes. This implies an ethical discussion about the question. The introduction of new noninvasive techniques of prenatal diagnosis and the knowledge of the Nursing Team regarding new methodologies can be of great benefit to the mother and her children, and can help the Genetic Counseling of the families.La naturaleza no invasiva de la investigación del DNA fetal en la circulación materna representa una ventaja importante con relación a los métodos convencionales de diagnóstico prenatal. El uso de esta metodología implica la determinación del sexo fetal y el diagnóstico, el tratamiento intra-útero y la evaluación del pronóstico en muchas enfermedades. Las células fetales detectadas en la circulación maternal también pueden ser implicadas en enfermedades autoinmunes y representar una fuente potencial de células madre. Por otra parte, con la introducción de una tecnología que detecte el sexo fetal entre 6-8 semanas de gestación, existe la posibilidad de aborto precoz basada en la selección del sexo para los propósitos sociales. Esto implica una discusión ética previa sobre este problema. La introducción de nuevas técnicas no invasivas de diagnóstico prenatal y el conocimiento del Equipo de Enfermería con respecto a las nuevas metodolog

  2. Detection of Methylated Circulating DNA as Noninvasive Biomarkers for Breast Cancer Diagnosis

    Science.gov (United States)

    Cheuk, Isabella Wai Yin; Shin, Vivian Yvonne

    2017-01-01

    Internationally, breast cancer is the most common female cancer, and is induced by a combination of environmental, genetic, and epigenetic risk factors. Despite the advancement of imaging techniques, invasive sampling of breast epithelial cells is the only definitive diagnostic procedure for patients with breast cancer. To date, molecular biomarkers with high sensitivity and specificity for the screening and early detection of breast cancer are lacking. Recent evidence suggests that the detection of methylated circulating cell-free DNA in the peripheral blood of patients with cancer may be a promising quantitative and noninvasive method for cancer diagnosis. Methylation detection based on a multi-gene panel, rather than on the methylation status of a single gene, may be used to increase the sensitivity and specificity of breast cancer screening. In this review, the results of 14 relevant studies, investigating the efficacy of cell-free DNA methylation screening for breast cancer diagnosis, have been summarized. The genetic risk factors for breast cancer, the methods used for breast cancer detection, and the techniques and limitations related to the detection of cell-free DNA methylation status, have also been reviewed and discussed. From this review, we conclude that the analysis of peripheral blood or other samples to detect differentially methylated cell-free DNA is a promising technique for use in clinical settings, and may improve the sensitivity of screening for both, early detection and disease relapse, and thus improve the future prognosis of patients with breast cancer. PMID:28382090

  3. Deconstructing autofluorescence: non-invasive detection and monitoring of biochemistry in cells and tissues (Conference Presentation)

    Science.gov (United States)

    Goldys, Ewa M.; Gosnell, Martin E.; Anwer, Ayad G.; Cassano, Juan C.; Sue, Carolyn M.; Mahbub, Saabah B.; Pernichery, Sandeep M.; Inglis, David W.; Adhikary, Partho P.; Jazayeri, Jalal A.; Cahill, Michael A.; Saad, Sonia; Pollock, Carol; Sutton-Mcdowall, Melanie L.; Thompson, Jeremy G.

    2016-03-01

    Automated and unbiased methods of non-invasive cell monitoring able to deal with complex biological heterogeneity are fundamentally important for biology and medicine. Label-free cell imaging provides information about endogenous fluorescent metabolites, enzymes and cofactors in cells. However extracting high content information from imaging of native fluorescence has been hitherto impossible. Here, we quantitatively characterise cell populations in different tissue types, live or fixed, by using novel image processing and a simple multispectral upgrade of a wide-field fluorescence microscope. Multispectral intrinsic fluorescence imaging was applied to patient olfactory neurosphere-derived cells, cell model of a human metabolic disease MELAS (mitochondrial myopathy, encephalomyopathy, lactic acidosis, stroke-like syndrome). By using an endogenous source of contrast, subtle metabolic variations have been detected between living cells in their full morphological context which made it possible to distinguish healthy from diseased cells before and after therapy. Cellular maps of native fluorophores, flavins, bound and free NADH and retinoids unveiled subtle metabolic signatures and helped uncover significant cell subpopulations, in particular a subpopulation with compromised mitochondrial function. The versatility of our method is further illustrated by detecting genetic mutations in cancer, non-invasive monitoring of CD90 expression, label-free tracking of stem cell differentiation, identifying stem cell subpopulations with varying functional characteristics, tissue diagnostics in diabetes, and assessing the condition of preimplantation embryos. Our optimal discrimination approach enables statistical hypothesis testing and intuitive visualisations where previously undetectable differences become clearly apparent.

  4. Regional sympathetic denervation after myocardial infarction in humans detected noninvasively using I-123-metaiodobenzylguanidine

    Energy Technology Data Exchange (ETDEWEB)

    Stanton, M.S.; Tuli, M.M.; Radtke, N.L.; Heger, J.J.; Miles, W.M.; Mock, B.H.; Burt, R.W.; Wellman, H.N.; Zipes, D.P. (Indiana Univ. School of Medicine, IN (USA))

    1989-11-15

    Transmural myocardial infarction in dogs produces denervation of sympathetic nerves in viable myocardium apical to the infarct that may be arrhythmogenic. It is unknown whether sympathetic denervation occurs in humans. The purpose of this study was to use iodine-123-metaiodobenzylguanidine (MIBG), a radiolabeled guanethidine analog that is actively taken up by sympathetic nerve terminals, to image noninvasively the cardiac sympathetic nerves in patients with and without ventricular arrhythmias after myocardial infarction. Results showed that 10 of 12 patients with spontaneous ventricular tachyarrhythmias after myocardial infarction exhibited regions of thallium-201 uptake indicating viable perfused myocardium, with no MIBG uptake. Such a finding is consistent with sympathetic denervation. One patient had frequent episodes of nonsustained ventricular tachycardia induced at exercise testing that was eliminated by beta-adrenoceptor blockade. Eleven of the 12 patients had ventricular tachycardia induced at electrophysiologic study and metoprolol never prevented induction. Sympathetic denervation was also detected in two of seven postinfarction patients without ventricular arrhythmias. Normal control subjects had no regions lacking MIBG uptake. This study provides evidence that regional sympathetic denervation occurs in humans after myocardial infarction and can be detected noninvasively by comparing MIBG and thallium-201 images. Although the presence of sympathetic denervation may be related to the onset of spontaneous ventricular tachyarrhythmias in some patients, it does not appear to be related to sustained ventricular tachycardia induced at electrophysiologic study.

  5. Potential of non-invasive esophagus cancer detection based on urine surface-enhanced Raman spectroscopy

    Science.gov (United States)

    Huang, Shaohua; Wang, Lan; Chen, Weisheng; Feng, Shangyuan; Lin, Juqiang; Huang, Zufang; Chen, Guannan; Li, Buhong; Chen, Rong

    2014-11-01

    Non-invasive esophagus cancer detection based on urine surface-enhanced Raman spectroscopy (SERS) analysis was presented. Urine SERS spectra were measured on esophagus cancer patients (n = 56) and healthy volunteers (n = 36) for control analysis. Tentative assignments of the urine SERS spectra indicated some interesting esophagus cancer-specific biomolecular changes, including a decrease in the relative content of urea and an increase in the percentage of uric acid in the urine of esophagus cancer patients compared to that of healthy subjects. Principal component analysis (PCA) combined with linear discriminant analysis (LDA) was employed to analyze and differentiate the SERS spectra between normal and esophagus cancer urine. The diagnostic algorithms utilizing a multivariate analysis method achieved a diagnostic sensitivity of 89.3% and specificity of 83.3% for separating esophagus cancer samples from normal urine samples. These results from the explorative work suggested that silver nano particle-based urine SERS analysis coupled with PCA-LDA multivariate analysis has potential for non-invasive detection of esophagus cancer.

  6. Potential of non-invasive esophagus cancer detection based on urine surface-enhanced Raman spectroscopy

    International Nuclear Information System (INIS)

    Huang, Shaohua; Wang, Lan; Feng, Shangyuan; Lin, Juqiang; Huang, Zufang; Chen, Guannan; Li, Buhong; Chen, Rong; Chen, Weisheng

    2014-01-01

    Non-invasive esophagus cancer detection based on urine surface-enhanced Raman spectroscopy (SERS) analysis was presented. Urine SERS spectra were measured on esophagus cancer patients (n = 56) and healthy volunteers (n = 36) for control analysis. Tentative assignments of the urine SERS spectra indicated some interesting esophagus cancer-specific biomolecular changes, including a decrease in the relative content of urea and an increase in the percentage of uric acid in the urine of esophagus cancer patients compared to that of healthy subjects. Principal component analysis (PCA) combined with linear discriminant analysis (LDA) was employed to analyze and differentiate the SERS spectra between normal and esophagus cancer urine. The diagnostic algorithms utilizing a multivariate analysis method achieved a diagnostic sensitivity of 89.3% and specificity of 83.3% for separating esophagus cancer samples from normal urine samples. These results from the explorative work suggested that silver nano particle-based urine SERS analysis coupled with PCA–LDA multivariate analysis has potential for non-invasive detection of esophagus cancer. (letter)

  7. [Identification of an ideal noninvasive method to detect A3243G gene mutation in MELAS syndrome].

    Science.gov (United States)

    Ma, Yi-nan; Fang, Fang; Yang, Yan-ling; Zhang, Ying; Wang, Song-tao; Xu, Yu-feng; Pei, Pei; Yuan, Yun; Bu, Ding-fang; Qi, Yu

    2008-12-16

    To identify a better non-invasive method to detect the carrier of mitochondrial A3243G mutation, a cause of mitochondrial encephalopathy-lactic acidosis-stroke like episode (MELAS) syndrome. DNA was extracted from the peripheral blood, urine, hair follicle, and saliva of 25 MELAS syndrome patients carrying A3243G mutation and their mothers and other maternal relatives, 33 persons in number, and the muscle tissues from 5 patients obtained by biopsy. A3243G mutation was detected by PCR-RFLP method, and the A3243G mutation ratio was identified by measuring the density of each band and calculation with the software AlphaEase 5.0. A3243G mutations were detected in all tissues of the 25 MELAS patients. The A3243G mutation ratio in urine was 62% +/- 9%, significantly higher than that in the blood [(36% +/- 10%), t = -11.13, P < 0.01]. A3243G mutations were detected in at least one tissue of the 28 maternal relatives. The A3243G mutation rates in their urine samples was 33.0% (5.0% - 70.4%), significantly higher than that in their blood samples [8.0% (0 - 33.3%), z = -4.197, P < 0.01]. There was no significant difference in A3243G mutation ratio among the samples of hair follicle, saliva, and blood. The A3243G mutation ratio in urine is significantly higher than those in blood samples of the patients and their maternal relatives. A noninvasive method, A3243G mutation ratio analysis of urine is superior to that in blood.

  8. A novel non-invasive detection method for the FGFR3 gene mutation in maternal plasma for a fetal achondroplasia diagnosis based on signal amplification by hemin-MOFs/PtNPs.

    Science.gov (United States)

    Chen, Jun; Yu, Chao; Zhao, Yilin; Niu, Yazhen; Zhang, Lei; Yu, Yujie; Wu, Jing; He, Junlin

    2017-05-15

    The small amount of cell-free fetal DNA (cffDNA) can be a useful biomarker for early non-invasive prenatal diagnosis (NIPD) of achondroplasia. In this study, a novel non-invasive electrochemical DNA sensor for ultrasensitive detecting FGFR3 mutation gene, a pathogenic gene of achondroplasia, based on biocatalytic signal materials and the biotin-streptavidin system are presented. Notably encapsulation of hemin in metal-organic frameworks-based materials (hemin-MOFs) and platinum nanoparticles (PtNPs) were used to prepare hemin-MOFs/PtNPs composites via a one-beaker-one-step reduction. We utilized hemin-MOFs/PtNPs for signal amplification because the promising hemin-MOFs/PtNPs nanomaterial has remarkable ability of catalyze H 2 O 2 as well as excellent conductivity. To further amplify the electrochemical signal, reduced graphene oxide-tetraethylene pentamine (rGO-TEPA), gold nanoparticles and streptavidin were selected for modification of the electrode to enhance the conductivity and immobilize more biotin-modified capture probe (Bio-CP) through the high specificity and superior affinity between streptavidin and biotin. The electrochemical signal was primarily derived from the synergistic catalysis of H 2 O 2 by hemin and PtNPs and recorded by Chronoamperometry. Under the optimal conditions, this newly designed biosensor exhibited sensitive detection of FGFR3 from 0.1fM to 1nM with a low detection limit of 0.033fM (S/N=3). We proposed that this ultrasensitive biosensor is useful for the early non-invasive prenatal diagnosis of achondroplasia. Copyright © 2016 Elsevier B.V. All rights reserved.

  9. Value of magnetic resonance imaging for the noninvasive detection of stenosis in coronary artery bypass grafts and recipient coronary arteries

    NARCIS (Netherlands)

    Langerak, Susan E.; Vliegen, Hubert W.; Jukema, J. Wouter; Kunz, Patrik; Zwinderman, Aeilko H.; Lamb, Hildo J.; van der Wall, Ernst E.; de Roos, Albert

    2003-01-01

    BACKGROUND: Magnetic resonance imaging (MRI) is a potential noninvasive diagnostic tool to detect coronary artery bypass graft stenosis, but its value in clinical practice remains to be established. We investigated the value of MRI in detecting stenotic grafts, including recipient vessels. METHODS

  10. L-cysteine capped lanthanum hydroxide nanostructures for non-invasive detection of oral cancer biomarker.

    Science.gov (United States)

    Tiwari, Sachchidanand; Gupta, Pramod K; Bagbi, Yana; Sarkar, Tamal; Solanki, Pratima R

    2017-03-15

    In this paper, we present the result of studies related to the in situ synthesis of amino acid (L-Cysteine) capped lanthanum hydroxide nanoparticles [Cys-La(OH) 3 NPs] towards the fabrication of efficient immunosensor for non-invasive detection of oral cancer. The characterization of Cys-La(OH) 3 NPs was carried out by different techniques including X-ray diffraction, scanning electron microscopy, transmission electron microscopy, fourier transform infrared spectroscopy and electrochemical techniques. These Cys-La(OH) 3 NPs were electrophoretically deposited onto an indium-tin-oxide glass substrate and used for immobilization of anti-cytokeratin fragment-21-1 (anti-Cyfra-21-1) for the electrochemical detection of Cyfra-21-1. This immunosensor shows a broad detection range of 0.001-10.2ngmL -1 , the low detection limit of 0.001ngmL -1 , and high sensitivity of 12.044µA (ng per mL cm -2 ) -1 with a response time of 5min. This immunosensor was found to be more advanced in terms of high sensitivity and low detection limit as compared to previously reported biosensors and commercially available ELISA kit (Kinesis DX). Copyright © 2016 Elsevier B.V. All rights reserved.

  11. Recent developments in the food quality detected by non-invasive nuclear magnetic resonance technology.

    Science.gov (United States)

    Fan, Kai; Zhang, Min

    2018-02-16

    Nuclear magnetic resonance (NMR) is a rapid, accurate and non-invasive technology and widely used to detect the quality of food, particularly to fruits and vegetables, meat and aquatic products. This review is a survey of recent developments in experimental results for the quality of food on various NMR technologies in processing and storage over the past decade. Following a discussion of the quality discrimination and classification of food, analysis of food compositions and detection of physical, chemical, structural and microbiological properties of food are outlined. Owing to high cost, low detection limit and sensitivity, the professional knowledge involved and the safety issues related to the maintenance of the magnetic field, so far the practical applications are limited to detect small range of food. In order to promote applications for a broader range of foods further research and development efforts are needed to overcome the limitations of NMR in the detection process. The needs and opportunities for future research and developments are outlined.

  12. Non-invasive optical detection of esophagus cancer based on urine surface-enhanced Raman spectroscopy

    Science.gov (United States)

    Huang, Shaohua; Wang, Lan; Chen, Weiwei; Lin, Duo; Huang, Lingling; Wu, Shanshan; Feng, Shangyuan; Chen, Rong

    2014-09-01

    A surface-enhanced Raman spectroscopy (SERS) approach was utilized for urine biochemical analysis with the aim to develop a label-free and non-invasive optical diagnostic method for esophagus cancer detection. SERS spectrums were acquired from 31 normal urine samples and 47 malignant esophagus cancer (EC) urine samples. Tentative assignments of urine SERS bands demonstrated esophagus cancer specific changes, including an increase in the relative amounts of urea and a decrease in the percentage of uric acid in the urine of normal compared with EC. The empirical algorithm integrated with linear discriminant analysis (LDA) were employed to identify some important urine SERS bands for differentiation between healthy subjects and EC urine. The empirical diagnostic approach based on the ratio of the SERS peak intensity at 527 to 1002 cm-1 and 725 to 1002 cm-1 coupled with LDA yielded a diagnostic sensitivity of 72.3% and specificity of 96.8%, respectively. The area under the receive operating characteristic (ROC) curve was 0.954, which further evaluate the performance of the diagnostic algorithm based on the ratio of the SERS peak intensity combined with LDA analysis. This work demonstrated that the urine SERS spectra associated with empirical algorithm has potential for noninvasive diagnosis of esophagus cancer.

  13. Noninvasive detection of coronary thrombi with 111In platelets: concise communication

    International Nuclear Information System (INIS)

    Bergmann, S.R.; Lerch, R.A.; Mathias, C.J.; Sobel, B.E.; Welch, M.J.

    1983-01-01

    The need for rapid, definitive identification of coronary thrombosis has been intensified by the advent of thrombolytic therapy and by interest in the role of thrombosis in the etiology of coronary artery disease. To determine whether platelet thrombi can be detected noninvasively with 111 In platelets, a method was developed in which /sup 99m/Tc-tagged red blood cells were used to correct for activity within the blood attributable to platelets circulating but not associated with thrombus. In 18 dogs coronary thrombi were induced closed-chest with a copper coil introduced into the coronary artery. 111 In platelets and /sup 99m/Tc RBCs were administered either before or 1 hr after induction of thrombus, and serial scintigrams obtained. Coronary thrombus was identified readily in the processed scintigrams. In six dogs, thrombolysis was achieved with intracoronary streptokinase. In each case serial scintigraphy demonstrated resolution of the clot. The dual radiotracer technique should permit serial noninvasive delineation of the temporal relationship between platelet deposition and coronary heart disease in patients, and should facilitate the evaluation of interventions designed to prevent platelet aggregation or to lyse existing thrombi

  14. Noninvasive detection of rejection of transplanted hearts with indium-111-labeled lymphocytes

    International Nuclear Information System (INIS)

    Eisen, H.J.; Eisenberg, S.B.; Saffitz, J.E.; Bolman, R.M. III; Sobel, B.E.; Bergmann, S.R.

    1987-01-01

    To determine whether cardiac transplant rejection can be detected noninvasively with indium-111 ( 111 In)-labeled lymphocytes, we studied 11 dogs with thoracic heterotopic cardiac transplants without immunosuppression and five dogs with transplants treated with cyclosporine (10 mg/kg/day) and prednisone (1 mg/kg/day). All were evaluated sequentially with gamma scintigraphy after administration of 150 to 350 muCi of autologous 111 In-lymphocytes. Technetium-99m-labeled red blood cells (1 to 3 mCi) were used for correction of radioactivity in the blood pool attributable to circulating labeled lymphocytes. Lymphocyte infiltration was quantified as the ratio of indium in the myocardium of the transplant or native heart compared with that in blood (indium excess, IE). Results were correlated with mechanical and electrical activity of allografts and with histologic findings in sequential biopsy specimens. In untreated dogs (n = 11), IE was 15.5 +/- 7.0 (SD) in transplanted hearts undergoing rejection and 0.4 +/- 1.1 in native hearts on the day before animals were killed. In dogs treated with cyclosporine and prednisone (n = 5), IE was minimal in allografts during the course of immunosuppression (0.8 +/- 0.4) and increased to 22.9 +/- 11.1 after immunosuppression was stopped. Scintigraphic criteria of rejection (IE greater than 2 SD above that in native hearts) correlated with results of biopsies indicative of rejection and appeared before electrophysiologic or mechanical manifestations of dysfunction. Thus infiltration of labeled lymphocytes in allografts, indicative of rejection, is detectable noninvasively by gamma scintigraphy and provides a sensitive approach potentially applicable to clinical monitoring for early detection of rejection and guidance for titration of immunosuppressive measures

  15. Noninvasive detection of inhomogeneities in turbid media with time-resolved log-slope analysis

    International Nuclear Information System (INIS)

    Wan, S.K.; Guo Zhixiong; Kumar, Sunil; Aber, Janice; Garetz, B.A.

    2004-01-01

    Detecting foreign objects embedded in turbid media using noninvasive optical tomography techniques is of great importance in many practical applications, such as in biomedical imaging and diagnosis, safety inspection on aircrafts and submarines, and LIDAR techniques. In this paper we develop a novel optical tomography approach based on slope analysis of time-resolved back-scattered signals collected at the medium boundaries where the light source is an ultrafast, short-pulse laser. As the optical field induced by the laser-pulse propagates, the detected temporal signals are influenced by the optical properties of the medium traversed. The detected temporal signatures therefore contain information that can indicate the presence of an inhomogeneity as well as its size and location relative to the laser source and detection systems. The log-slope analysis of the time-resolved back-scattered intensity is shown to be an effective method for extracting the information contained in the signal. The technique is validated by experimental results and by Monte Carlo simulations

  16. A Review of Non-Invasive Techniques to Detect and Predict Localised Muscle Fatigue

    Directory of Open Access Journals (Sweden)

    Mohamed R. Al-Mulla

    2011-03-01

    Full Text Available Muscle fatigue is an established area of research and various types of muscle fatigue have been investigated in order to fully understand the condition. This paper gives an overview of the various non-invasive techniques available for use in automated fatigue detection, such as mechanomyography, electromyography, near-infrared spectroscopy and ultrasound for both isometric and non-isometric contractions. Various signal analysis methods are compared by illustrating their applicability in real-time settings. This paper will be of interest to researchers who wish to select the most appropriate methodology for research on muscle fatigue detection or prediction, or for the development of devices that can be used in, e.g., sports scenarios to improve performance or prevent injury. To date, research on localised muscle fatigue focuses mainly on the clinical side. There is very little research carried out on the implementation of detecting/predicting fatigue using an autonomous system, although recent research on automating the process of localised muscle fatigue detection/prediction shows promising results.

  17. A Review of Non-Invasive Techniques to Detect and Predict Localised Muscle Fatigue

    Science.gov (United States)

    Al-Mulla, Mohamed R.; Sepulveda, Francisco; Colley, Martin

    2011-01-01

    Muscle fatigue is an established area of research and various types of muscle fatigue have been investigated in order to fully understand the condition. This paper gives an overview of the various non-invasive techniques available for use in automated fatigue detection, such as mechanomyography, electromyography, near-infrared spectroscopy and ultrasound for both isometric and non-isometric contractions. Various signal analysis methods are compared by illustrating their applicability in real-time settings. This paper will be of interest to researchers who wish to select the most appropriate methodology for research on muscle fatigue detection or prediction, or for the development of devices that can be used in, e.g., sports scenarios to improve performance or prevent injury. To date, research on localised muscle fatigue focuses mainly on the clinical side. There is very little research carried out on the implementation of detecting/predicting fatigue using an autonomous system, although recent research on automating the process of localised muscle fatigue detection/prediction shows promising results. PMID:22163810

  18. Noninvasive detection of change in skeletal muscle oxygenation during incremental exercise with near-infrared spectroscopy

    Science.gov (United States)

    Liu, Fang; Luo, Qingming; Xu, Guodong; Li, Pengcheng

    2003-12-01

    Near infrared spectroscopy (NIRS) has been developed as a non-invasive method to assess O2 delivery, O2 consumption and blood flow, in diverse local muscle groups at rest and during exercise. The aim of this study was to investigate local O2 consumption in exercising muscle by use of near-infrared spectroscopy (NIRS). Ten elite athletes of different sport items were tested in rest and during step incremental load exercise. Local variations of quadriceps muscles were investigated with our wireless NIRS blood oxygen monitor system. The results show that the changes of blood oxygen relate on the sport items, type of muscle, kinetic capacity et al. These results indicate that NIRS is a potential useful tool to detect local muscle oxygenation and blood flow profiles; therefore it might be easily applied for evaluating the effect of athletes training.

  19. Drug detection in breath: non-invasive assessment of illicit or pharmaceutical drugs.

    Science.gov (United States)

    Trefz, Phillip; Kamysek, Svend; Fuchs, Patricia; Sukul, Pritam; Schubert, Jochen K; Miekisch, Wolfram

    2017-03-20

    Breath analysis not only holds great potential for the development of new non-invasive diagnostic methods, but also for the identification and follow up of drug levels in breath. This is of interest for both, forensic and medical science. On the one hand, the detection of drugs of abuse in exhaled breath-similar to the well-known breath alcohol tests-would be highly desirable as an alternative to blood or urine analysis in situations such as police controls for drugged driving. The non-invasive detection of drugs and their metabolites is thus of great interest in forensic science, especially since marijuana is becoming legalized in certain parts of the US and the EU. The detection and monitoring of medical drugs in exhaled breath without the need of drawing blood samples on the other hand, is of high relevance in the clinical environment. This could facilitate a more precise medication and enable therapy control without any burden to the patient. Furthermore, it could be a step towards personalized medicine. This review gives an overview of the current state of drug detection in breath, including both volatile and non-volatile substances. The review is divided into two sections. The first section deals with qualitative detection of drugs (drugs of abuse), while the second is related to quantitative drug detection (medical drugs). Chances and limitations are discussed for both aspects. The detection of the intravenous anesthetic propofol is presented as a detailed example that demonstrates the potential, requirements, pitfalls and limitations of therapeutic drug monitoring by means of breath analysis.

  20. Non-Invasive Detection of Lung Inflammation by Near-Infrared Fluorescence Imaging Using Bimodal Liposomes.

    Science.gov (United States)

    Desu, Hari R; Wood, George C; Thoma, Laura A

    2016-01-01

    Acute lung injury (ALI) and its more severe form, acute respiratory distress syndrome results in respiratory obstruction and severe lung inflammation. Critical characteristics of ALI are alveolar edema, infiltration of leukocytes (neutrophils and monocytes), release of pro-inflammatory cytokines and chemokines into broncho-alveolar lavage fluid, and activation of integrin receptors. The purpose of the study was to demonstrate non-invasive detection of lung inflammation using integrin receptor targeted fluorescence liposomes. An inflammation similar to that observed in ALI was elicited in rodents by intra-tracheal instillation of interleukin-1beta (IL-1beta). Cyclic arginine glycine-(D)-aspartic acid-peptide (cRGD-peptide) grafted fluorescence liposomes were administered to ALI induced male Sprague-Dawley rats for targeting lung integrin receptors. Near-infrared fluorescence imaging (NIRFI) was applied for visualization and quantitation of lung inflammation. NIRFI signals were correlated with inflammatory cellular and biochemical markers of lungs. A positive correlation was observed between NIRF signals and lung inflammation markers. Compared to control group, an intense NIRF signal was observed in ALI induced rats in the window 6-24 h post-IL-1beta instillation. Interaction of integrin receptors with targeted liposomes was assumed to contribute to intense NIRF signal. RT-PCR studies showed an elevated lung expression of alphavbeta5 integrin receptors, 12 h post-IL-1beta instillation. In vitro studies demonstrated integrin receptor specificity of targeted liposomes. These targeted liposomes showed binding to alphavbeta5 integrin receptors expressed on alveolar cells. Non-invasive detection of lung inflammation was demonstrated using a combination of integrin receptor targeting and NIRFI.

  1. Noninvasive, optoacoustic detection and characterization of intra- and extracranial hematomas and cerebral hypoxia

    Science.gov (United States)

    Petrov, Andrey; Prough, Donald S.; Petrov, Yuriy; Petrov, Irene Y.; Robertson, Claudia S.; Asokan, Vasantha; Agbor, Adaeze; Esenaliev, Rinat O.

    2015-03-01

    Early diagnosis of intracranial hematomas is necessary to improve outcome in patients with traumatic brain injury (TBI). CT and MRI can diagnose intracranial hematomas, but cannot be used until the patient arrives at a major healthcare facility, resulting in delayed diagnosis. Near infrared spectroscopy may suggest the presence of unilateral intracranial hematomas, but provides minimal information on hematoma type and location due to limitations associated with strong light scattering. We have used optoacoustics (which combines high endogenous optical contrast with the resolution of ultrasound) to diagnose hematomas and monitor cerebral oxygenation. We performed animal and clinical studies on detection and characterization of hematomas and on monitoring cerebral hypoxia by probing the superior sagittal sinus (SSS). Recently, we built a medical grade, multi-wavelength, OPO-based optoacoustic system tunable in the near infrared spectral range. We developed new patient interfaces for noninvasive, transcranial measurements in the transmission mode in the presence of dense hair and used it in patients with TBI. The optoacoustic system was capable of detecting and characterizing intra- and extracranial hematomas. SSS blood oxygenation was measured as well with the new interface. The obtained results indicate that the optoacoustic system in the transmission mode provides detection and characterization of hematomas in TBI patients, as well as cerebral venous blood oxygenation monitoring. The transmission mode approach can be used for optoacoustic brain imaging, tomography, and mapping in humans.

  2. [Noninvasive detection of hematocrit and the mean corpuscular hemoglobin concentration levels by Vis-NIR spectroscopy].

    Science.gov (United States)

    Zhao, Jing; Lin, Ling; Lu, Xiao-Zuo; Li, Gang

    2014-03-01

    Hematocrit (HCT) and mean hemoglobin concentration(MCHC) play a very important role in preventing cardiovascular disease and anemia. A method was developed on the basis of spectroscopy to detect HCT and MCHC non-invasively and accurately. The anatomical study showed that the blood rheology abnormalities and blood viscosity's changes can cause the changes of tongue, so there is a certain correlation between tongue and blood components. Reflectance spectrums from the tongue tips of 240 volunteers were collected, then the tongue pictures were captured and the biochemical analysis results were recorded at the same time. The 240 samples were separated into two parts: calibration sample and test sample. Spectra were then subjected to a partial least squares regression (PLSR) analysis to develop mathematics models for predicting HCT levels. The correlation between the data and prediction of HCT and MCHC yielded calibration samples value of 0.998 and 0.938. HCT and MCHC levels of test samples predicted by this model from Visible-Near infrared spectra provided a coefficient of determination in prediction of 0.979 and 0.883 with an average relative error of prediction of 1.65% and 1.88%, a root mean square error of prediction of 4.066 and 4.139. From the experiment results we can see that the model which was built before can better predict the HCT and MCHC, and the results also showed that spectrometry method may provide a promising approach to the noninvasive measurement of human HCT and MCHC with a combination of PLSR analysis.

  3. Characterization of fetal cells from the maternal circulation by microarray gene expression analysis - Could the extravillous trophoblasts be a target for future cell-based non-invasive prenatal diagnosis?

    DEFF Research Database (Denmark)

    Hatt, Lotte; Brinch, Marie; Singh, Ripudaman

    2014-01-01

    stem cell microarray analysis. Results: 39 genes were identified as candidates for unique fetal cell markers. More than half of these are genes known to be expressed in the placenta, especially in extravillous trophoblasts (EVTs). Immunohistochemical staining of placental tissue confirmed CD105......Introduction: Circulating fetal cells in maternal blood provide a tool for risk-free, non-invasive prenatal diagnosis. However, fetal cells in the maternal circulation are scarce, and to effectively isolate enough of them for reliable diagnostics, it is crucial to know which fetal cell type......(s) should be targeted. Materials and Methods: Fetal cells were enriched from maternal blood by magnetic-activated cell sorting using the endothelial cell marker CD105 and identified by XY fluorescence in situ hybridization. Expression pattern was compared between fetal cells and maternal blood cells using...

  4. Multi-channel non-invasive fetal electrocardiography detection using wavelet decomposition

    Science.gov (United States)

    Almeida, Javier; Ruano, Josué; Corredor, Germán.; Romo-Bucheli, David; Navarro-Vargas, José Ricardo; Romero, Eduardo

    2017-11-01

    Non-invasive fetal electrocardiography (fECG) has attracted the medical community because of the importance of fetal monitoring. However, its implementation in clinical practice is challenging: the fetal signal has a low Signal- to-Noise-Ratio and several signal sources are present in the maternal abdominal electrocardiography (AECG). This paper presents a novel method to detect the fetal signal from a multi-channel maternal AECG. The method begins by applying filters and signal detrending the AECG signals. Afterwards, the maternal QRS complexes are identified and subtracted. The residual signals are used to detect the fetal QRS complex. Intervals of these signals are analyzed by using a wavelet decomposition. The resulting representation feds a previously trained Random Forest (RF) classifier that identifies signal intervals associated to fetal QRS complex. The method was evaluated on a public available dataset: the Physionet2013 challenge. A set of 50 maternal AECG records were used to train the RF classifier. The evaluation was carried out in signals intervals extracted from additional 25 maternal AECG. The proposed method yielded an 83:77% accuracy in the fetal QRS complex classification task.

  5. Noninvasive Detection of Inflammation-Associated Colon Cancer in a Mouse Model

    Directory of Open Access Journals (Sweden)

    Aaron C. Ericsson

    2010-12-01

    Full Text Available Helicobacter bilis-infected Smad3-/- mice represent an attractive model of inflammation-associated colon cancer. Most infected mice develop mucinous adenocarcinoma (MUC by 6 weeks post inoculation (PI; however, approximately one third do not progress to MUC. The ability to predict the development of MUC in mice used in therapeutic studies would confer a considerable saving of time and money. In addition, the inadvertent use of mice without MUC may confound therapeutic studies by making treatments seem falsely efficacious. We assessed both magnetic resonance imaging (MRI and fecal biomarkers in Helicobacter- and sham-inoculated mice as methods of noninvasively detecting MUC before the predicted onset of disease. Non-contrast-enhanced MRI was able to detect lesions in 58% of mice with histologically confirmed MUC; however, serial imaging sessions produced inconsistent results. MRI was also a labor- and time-intensive technique requiring anesthesia. Alternatively, inflammatory biomarkers isolated from feces at early time points were correlated to later histologic lesions. Fecal expression of interleukin 1β, macrophage inflammatory protein 1α, and regulated on activation, normal T-cell expressed, and secreted at 3 weeks PI correlated significantly with lesion severity at 9 weeks PI. For each biomarker, receiver-operator characteristic curves were also generated, and all three biomarkers performed well at 1 to 3 weeks PI, indicating that the development of MUC can be predicted based on the early expression of certain inflammatory mediators in feces.

  6. Non-Invasive Detection of Anastomotic Leakage Following Esophageal and Pancreatic Surgery by Urinary Analysis.

    Science.gov (United States)

    Plat, Victor D; van Gaal, Nora; Covington, James A; Neal, Matthew; de Meij, Tim G J; van der Peet, Donald L; Zonderhuis, Babs; Kazemier, Geert; de Boer, Nanne K H; Daams, Freek

    2018-06-15

    Esophagectomy or pancreaticoduodenectomy is the standard surgical approach for patients with tumors of the esophagus or pancreatic head. Postoperative mortality is strongly correlated with the occurrence of anastomotic leakage (AL). Delay in diagnosis leads to delay in treatment, which ratifies the need for development of novel and accurate non-invasive diagnostic tests for detection of AL. Urinary volatile organic compounds (VOCs) reflect the metabolic status of an individual, which is associated with a systemic immunological response. The aim of this study was to determine the diagnostic accuracy of urinary VOCs to detect AL after esophagectomy or pancreaticoduodenectomy. In the present study, urinary VOCs of 63 patients after esophagectomy (n = 31) or pancreaticoduodenectomy (n = 32) were analyzed by means of field asymmetric ion mobility spectrometry. AL was defined according to international study groups. AL was observed in 15 patients (24%). Urinary VOCs of patients with AL after pancreaticoduodenectomy could be distinguished from uncomplicated controls, area under the curve 0.85 (95% CI 0.76-0.93), sensitivity 76%, and specificity 77%. However, this was not observed following esophagectomy, area under the curve 0.51 (95% CI 0.37-0.65). In our study population AL following pancreaticoduodenectomy could be discriminated from uncomplicated controls by means of urinary VOC analysis, NTC03203434. © 2018 The Author(s) Published by S. Karger AG, Basel.

  7. Non-invasive MRI detection of individual pellets in the human stomach.

    Science.gov (United States)

    Knörgen, Manfred; Spielmann, Rolf Peter; Abdalla, Ahmed; Metz, Hendrik; Mäder, Karsten

    2010-01-01

    MRI is a powerful and non-invasive method to follow the fate of oral drug delivery systems in humans. Until now, most MRI studies focused on monolithic dosage forms (tablets and capsules). Small-sized multi-particulate drug delivery systems are very difficult to detect due to the poor differentiation between the delivery system and the food. A new approach was developed to overcome the described difficulties and permit the selective imaging of small multi-particulate dosage forms within the stomach. We took advantage of the different sensitivities to susceptibility artefacts of T(2)-weighted spin-echo sequences and T(2)-weighted gradient echo pulse sequences. Using a combination of both methods within a breath hold followed by a specific mathematical image analysis involving co-registration, motion correction, voxel-by-voxel comparison of the maps from different pulse sequences and graphic 2D-/3D-presentation, we were able to obtain pictures with a high sensitivity due to susceptibility effects caused by a 1% magnetite load. By means of the new imaging sequence, single pellets as small as 1mm can be detected with high selectivity within surrounding heterogeneous food in the human stomach. The developed method greatly expands the use of MRI to study the fate of oral multi-particulate drug delivery systems and their food dependency in men. Copyright 2009 Elsevier B.V. All rights reserved.

  8. Imperfect pathogen detection from non-invasive skin swabs biases disease inference

    Science.gov (United States)

    DiRenzo, Graziella V.; Grant, Evan H. Campbell; Longo, Ana; Che-Castaldo, Christian; Zamudio, Kelly R.; Lips, Karen

    2018-01-01

    1. Conservation managers rely on accurate estimates of disease parameters, such as pathogen prevalence and infection intensity, to assess disease status of a host population. However, these disease metrics may be biased if low-level infection intensities are missed by sampling methods or laboratory diagnostic tests. These false negatives underestimate pathogen prevalence and overestimate mean infection intensity of infected individuals. 2. Our objectives were two-fold. First, we quantified false negative error rates of Batrachochytrium dendrobatidis on non-invasive skin swabs collected from an amphibian community in El Copé, Panama. We swabbed amphibians twice in sequence, and we used a recently developed hierarchical Bayesian estimator to assess disease status of the population. Second, we developed a novel hierarchical Bayesian model to simultaneously account for imperfect pathogen detection from field sampling and laboratory diagnostic testing. We evaluated the performance of the model using simulations and varying sampling design to quantify the magnitude of bias in estimates of pathogen prevalence and infection intensity. 3. We show that Bd detection probability from skin swabs was related to host infection intensity, where Bd infections information in advance, we advocate that the most cautious approach is to assume all errors are possible and to accommodate them by adjusting sampling designs. The modeling framework presented here improves the accuracy in estimating pathogen prevalence and infection intensity.

  9. An economic evaluation of second-trimester genetic ultrasonography for prenatal detection of down syndrome.

    Science.gov (United States)

    Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T; Knuppel, R A

    1998-11-01

    The objective of this study was to perform an economic evaluation of second-trimester genetic ultrasonography for prenatal detection of Down syndrome. More specifically, we sought to determine the following: (1) the diagnostic accuracy requirements (from the cost-benefit point of view) of genetic ultrasonography versus genetic amniocentesis for women at increased risk for fetal Down syndrome and (2) the possible economic impact of second-trimester genetic ultrasonography for the US population on the basis of the ultrasonographic accuracies reported in previously published studies. A cost-benefit equation was developed from the hypothesis that the cost of universal genetic amniocentesis of patients at increased risk for carrying a fetus with Down syndrome should be at least equal to the cost of universal genetic ultrasonography with amniocentesis used only for those with abnormal ultrasonographic results. The main components of the equation included the diagnostic accuracy of genetic ultrasonography (sensitivity and specificity for detecting Down syndrome), the costs of the amniocentesis package and genetic ultrasonography, and the lifetime cost of Down syndrome cases not detected by the genetic ultrasonography. After appropriate manipulation of the equation a graph was constructed, representing the balance between sensitivity and false-positive rate of genetic ultrasonography; this was used to examine the accuracy of previously published studies from the cost-benefit point of view. Sensitivity analyses included individual risks for Down syndrome ranging from 1:261 (risk of a 35-year-old at 18 weeks' gestation) to 1:44 (risk of a 44-year-old at 18 weeks' gestation). This economic evaluation was conducted from the societal perspective. Genetic ultrasonography was found to be economically beneficial only if the overall sensitivity for detecting Down syndrome was >74%. Even then, the cost-benefit ratio depended on the corresponding false-positive rate. Of the 7

  10. Non-Invasive Electrical Impedance Tomography for Multi-Scale Detection of Liver Fat Content

    Science.gov (United States)

    Luo, Yuan; Abiri, Parinaz; Zhang, Shell; Chang, Chih-Chiang; Kaboodrangi, Amir H.; Li, Rongsong; Sahib, Ashish K.; Bui, Alex; Kumar, Rajesh; Woo, Mary; Li, Zhaoping; Packard, René R. Sevag; Tai, Yu-Chong; Hsiai, Tzung K.

    2018-01-01

    Introduction: Obesity is associated with an increased risk of nonalcoholic fatty liver disease (NAFLD). While Magnetic Resonance Imaging (MRI) is a non-invasive gold standard to detect fatty liver, we demonstrate a low-cost and portable electrical impedance tomography (EIT) approach with circumferential abdominal electrodes for liver conductivity measurements. Methods and Results: A finite element model (FEM) was established to simulate decremental liver conductivity in response to incremental liver lipid content. To validate the FEM simulation, we performed EIT imaging on an ex vivo porcine liver in a non-conductive tank with 32 circumferentially-embedded electrodes, demonstrating a high-resolution output given a priori information on location and geometry. To further examine EIT capacity in fatty liver detection, we performed EIT measurements in age- and gender-matched New Zealand White rabbits (3 on normal, 3 on high-fat diets). Liver conductivity values were significantly distinct following the high-fat diet (p = 0.003 vs. normal diet, n=3), accompanied by histopathological evidence of hepatic fat accumulation. We further assessed EIT imaging in human subjects with MRI quantification for fat volume fraction based on Dixon procedures, demonstrating average liver conductivity of 0.331 S/m for subjects with low Body-Mass Index (BMI 25 kg/m²). Conclusion: We provide both the theoretical and experimental framework for a multi-scale EIT strategy to detect liver lipid content. Our preliminary studies pave the way to enhance the spatial resolution of EIT as a marker for fatty liver disease and metabolic syndrome. PMID:29556346

  11. Noninvasive Digital Detection of Fetal DNA in Plasma of 4-Week-Pregnant Women following In Vitro Fertilization and Embryo Transfer.

    Directory of Open Access Journals (Sweden)

    Bedri Karakas

    Full Text Available The discovery of cell-free fetal DNA (cfDNA circulating in the maternal blood has provided new opportunities for noninvasive prenatal diagnosis (NIPD. However, the extremely low levels of cfDNA within a high background of the maternal DNA in maternal circulation necessitate highly sensitive molecular techniques for its reliable use in NIPD. In this proof of principle study, we evaluated the earliest possible detection of cfDNA in the maternal plasma by a bead-based emulsion PCR technology known as BEAMing (beads, emulsion, amplification, magnetics. Blood samples were collected from in vitro fertilization (IVF patients at 2 to 6 weeks following embryo transfer (i.e., 4 to 8 week pregnancies and plasma DNA was extracted. The genomic regions of both X and Y chromosome-specific sequences (AMELX and AMELY were concurrently amplified in two sequential PCRs; first by conventional PCR then by BEAMing. The positive beads either for AMELX or AMELY gene sequences were counted by a flow cytometer. Our results showed that the pregnancies yielding boys had significantly higher plasma AMELY gene fractions (0.512 ± 0.221 than the ones yielding girls (0.028 ± 0.003 or non-pregnant women (0.020 ± 0.005, P= 0.0059. Here, we clearly demonstrated that the BEAMing technique is capable of reliably detecting cfDNA in the blood circulation of 4-week-pregnant women, which is only two weeks after the embryo transfer. BEAMing technique can also be used to early detect fetal DNA alterations in other pregnancy-associated disorders.

  12. Magnetic resonance imaging goes postmortem: noninvasive detection and assessment of myocardial infarction by postmortem MRI

    International Nuclear Information System (INIS)

    Jackowski, Christian; Warntjes, Marcel J.B.; Persson, Anders; Berge, Johan; Baer, Walter

    2011-01-01

    To investigate the performance of postmortem magnetic resonance imaging (pmMRI) in identification and characterization of lethal myocardial infarction in a non-invasive manner on human corpses. Before forensic autopsy, 20 human forensic corpses were examined on a 1.5-T system for the presence of myocardial infarction. Short axis, transversal and longitudinal long axis images (T1-weighted; T2-weighted; PD-weighted) were acquired in situ. In subsequent autopsy, the section technique was adapted to short axis images. Histological investigations were conducted to confirm autopsy and/or radiological diagnoses. Nineteen myocardial lesions were detected and age staged with pmMRI, of which 13 were histologically confirmed (chronic, subacute and acute). Six lesions interpreted as peracute by pmMRI showed no macroscopic or histological finding. Five of the six peracute lesions correlated well to coronary pathology, and one case displayed a severe hypertrophic alteration. pmMRI reliably demonstrates chronic, subacute and acute myocardial infarction in situ. In peracute cases pmMRI may display ischemic lesions undetectable at autopsy and routine histology. pmMRI has the potential to substantiate autopsy and to counteract the loss of reliable information on causes of death due to the recent disappearance of the clinical autopsy. (orig.)

  13. Towards non-invasive diagnostic techniques for early detection of acute renal transplant rejection: A review

    Directory of Open Access Journals (Sweden)

    Elizabeth Hollis

    2017-03-01

    Full Text Available The kidney is a very important complicated filtering organ of the body. When the kidney reaches stage 5 chronic kidney disease, end stage renal failure, the preeminent therapy is renal transplantation. Although it is the best form of treatment, lack of kidney donors is still challenging. Therefore, all efforts should be employed to prolong the survival rate of the transplanted kidney. However, graft dysfunction (e.g., acute rejection is one of the serious barriers to long term kidney transplant survival. Currently, graft dysfunction’s gold standard of diagnosis is renal biopsy. Although renal biopsy is helpful, it is not preferred due to its invasive nature, high morbidity rates, and expensiveness. Therefore, noninvasive imaging techniques have become the subject of extensive research and interest, giving a strong promise to replace, or at least to decrease, biopsy usage in diagnosing graft dysfunction. This survey will discuss not only the current diagnosis and treatment of graft dysfunction but also the state-of-the-art imaging techniques in detecting acute renal transplant rejection.

  14. Non-invasive detection of periodontal disease using diffuse reflectance spectroscopy: a clinical study

    Science.gov (United States)

    Prasanth, Chandra Sekhar; Betsy, Joseph; Subhash, Narayanan; Jayanthi, Jayaraj L.; Prasanthila, Janam

    2012-03-01

    In clinical diagnostic procedures, gingival inflammation is considered as the initial stage of periodontal breakdown. This is often detected clinically by bleeding on probing as it is an objective measure of inflammation. Since conventional diagnostic procedures have several inherent drawbacks, development of novel non-invasive diagnostic techniques assumes significance. This clinical study was carried out in 15 healthy volunteers and 25 patients to demonstrate the applicability of diffuse reflectance (DR) spectroscopy for quantification and discrimination of various stages of inflammatory conditions in periodontal disease. The DR spectra of diseased lesions recorded using a point monitoring system consisting of a tungsten halogen lamp and a fiber-optic spectrometer showed oxygenated hemoglobin absorption dips at 545 and 575 nm. Mean DR spectra on normalization shows marked differences between healthy and different stages of gingival inflammation. Among the various DR intensity ratios investigated, involving oxy Hb absorption peaks, the R620/R575 ratio was found to be a good parameter of gingival inflammation. In order to screen the entire diseased area and its surroundings instantaneously, DR images were recorded with an EMCCD camera at 620 and 575 nm. We have observed that using the DR image intensity ratio R620/R575 mild inflammatory tissues could be discriminated from healthy with a sensitivity of 92% and specificity of 93%, and from moderate with a sensitivity of 83% and specificity of 96%. The sensitivity and specificity obtained between moderate and severe inflammation are 82% and 76% respectively.

  15. A new approach for low-cost noninvasive detection of asymptomatic heart disease at rest.

    Science.gov (United States)

    DeMarzo, Arthur P; Calvin, James E

    2007-01-01

    It would be useful to have an inexpensive, noninvasive point-of-care test for early detection of asymptomatic heart disease. This study used impedance cardiography (ICG) in a new way to assess heart function that did not use stroke volume or cardiac output. There is a model of the ICG dZ/dt waveform that may be used as a template to represent normal heart function. The hypothesis was that a dZ/dt waveform which deviates from that template should indicate heart dysfunction and therefore heart disease. The objective was to assess the accuracy of this new ICG approach, using echocardiography as the standard. Thirty-four outpatients undergoing echocardiographic testing were tested by ICG while sitting upright and supine. All patients had no symptoms or history of a structural or functional heart disorder. Echocardiographic testing showed 17 patients with abnormalities and 17 as normal. ICG testing yielded 16 true positives for heart dysfunction with 1 false negative (sensitivity = 94%) and 17 true negatives with no false positives (specificity = 100%). Considering that the cost, technical skill, and time required for this ICG test are comparable to those of an electrocardiograph, this new approach has potential as a point-of-care screening test for asymptomatic heart disease.

  16. A study on new method of noninvasive esophageal venous pressure measurement based on the airflow and laser detection technology.

    Science.gov (United States)

    Hu, Chenghuan; Huang, Feizhou; Zhang, Rui; Zhu, Shaihong; Nie, Wanpin; Liu, Xunyang; Liu, Yinglong; Li, Peng

    2015-01-01

    Using optics combined with automatic control and computer real-time image detection technology, a novel noninvasive method of noncontact pressure manometry was developed based on the airflow and laser detection technology in this study. The new esophageal venous pressure measurement system was tested in-vitro experiments. A stable and adjustable pulse stream was produced from a self-developed pump and a laser emitting apparatus could generate optical signals which can be captured by image acquisition and analysis system program. A synchronization system simultaneous measured the changes of air pressure and the deformation of the vein wall to capture the vascular deformation while simultaneously record the current pressure value. The results of this study indicated that the pressure values tested by the new method have good correlation with the actual pressure value in animal experiments. The new method of noninvasive pressure measurement based on the airflow and laser detection technology is accurate, feasible, repeatable and has a good application prospects.

  17. Comparison of fatty liver index with noninvasive methods for steatosis detection and quantification

    Science.gov (United States)

    Zelber-Sagi, Shira; Webb, Muriel; Assy, Nimer; Blendis, Laurie; Yeshua, Hanny; Leshno, Moshe; Ratziu, Vlad; Halpern, Zamir; Oren, Ran; Santo, Erwin

    2013-01-01

    AIM: To compare noninvasive methods presently used for steatosis detection and quantification in nonalcoholic fatty liver disease (NAFLD). METHODS: Cross-sectional study of subjects from the general population, a subgroup from the First Israeli National Health Survey, without excessive alcohol consumption or viral hepatitis. All subjects underwent anthropometric measurements and fasting blood tests. Evaluation of liver fat was performed using four noninvasive methods: the SteatoTest; the fatty liver index (FLI); regular abdominal ultrasound (AUS); and the hepatorenal ultrasound index (HRI). Two of the noninvasive methods have been validated vs liver biopsy and were considered as the reference methods: the HRI, the ratio between the median brightness level of the liver and right kidney cortex; and the SteatoTest, a biochemical surrogate marker of liver steatosis. The FLI is calculated by an algorithm based on triglycerides, body mass index, γ-glutamyl-transpeptidase and waist circumference, that has been validated only vs AUS. FLI fatty liver. RESULTS: Three hundred and thirty-eight volunteers met the inclusion and exclusion criteria and had valid tests. The prevalence rate of NAFLD was 31.1% according to AUS. The FLI was very strongly correlated with SteatoTest (r = 0.91, P fatty liver by SteatoTest (≥ S2) and by FLI (≥ 60) was 0.74, which represented good agreement. The sensitivity of FLI vs SteatoTest was 85.5%, specificity 92.6%, positive predictive value (PPV) 74.7%, and negative predictive value (NPV) 96.1%. Most subjects (84.2%) with FLI fatty liver by HRI (≥ 1.5) and by FLI (≥ 60) was 0.43, which represented only moderate agreement. The sensitivity of FLI vs HRI was 56.3%, specificity 86.5%, PPV 57.0%, and NPV 86.1%. The diagnostic accuracy of FLI for steatosis > 5%, as predicted by SteatoTest, yielded an area under the receiver operating characteristic curve (AUROC) of 0.97 (95% CI: 0.95-0.98). The diagnostic accuracy of FLI for steatosis > 5%, as

  18. [Alternative biological materials to detect prenatal exposure to drugs of abuse in the third trimester of pregnancy].

    Science.gov (United States)

    García-Serra, J; Ramis, J; Simó, S; Joya, X; Pichini, S; Vall, O; García-Algar, O

    2012-11-01

    Detection of prenatal drug abuse exposure is essential to ensure an appropriate monitoring of affected children. A maternal questionnaire is not an efficient screening tool. The usefulness of maternal hair and meconium as biological materials to assess this exposure has been described in last few years. The aim of this study was to compare both these alternative biological materials for prenatal drug exposure detection in the third trimester of pregnancy, in order to assess its use as a screening tool. Between January and March 2010, samples of maternal hair and meconium from 107 mother-infant dyads were collected in Can Misses Hospital, Ibiza. The presence of opiates, cocaine, cannabis, and amphetamines, was determined in both materials, using standard chromatographic techniques. Maternal hair analysis showed a 15.9% positivity for drugs of abuse (17 cases): 11 cannabis, 7 cocaine, 1 cannabis and ecstasy, and 1 cannabis and cocaine. Only one mother reported cannabis consumption and another one, cocaine. Of the 7 cocaine positive cases in hair, 6 were confirmed in meconium analysis, while of 11 cannabis positive cases, only 3 were confirmed in meconium. Two different consumer profiles were defined: cocaine consumers and cannabis consumers (with only 2 cases of multiple drug use). The highest level of cocaine ever published was detected (1.582ng/g) in one case. This study reveals a high prevalence of drug abuse in this cohort during pregnancy. Improved screening methods may optimize prevention and monitoring of exposed infants. Maternal hair seems to be more sensitive than meconium to detect prenatal exposure to cannabis during the third trimester, so it might become a good screening tool. Copyright © 2011 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  19. Automated cerebellar segmentation: Validation and application to detect smaller volumes in children prenatally exposed to alcohol

    Directory of Open Access Journals (Sweden)

    Valerie A. Cardenas

    2014-01-01

    Discussion: These results demonstrate excellent reliability and validity of automated cerebellar volume and mid-sagittal area measurements, compared to manual measurements. These data also illustrate that this new technology for automatically delineating the cerebellum leads to conclusions regarding the effects of prenatal alcohol exposure on the cerebellum consistent with prior studies that used labor intensive manual delineation, even with a very small sample.

  20. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

    DEFF Research Database (Denmark)

    Boyd, Patricia Anne; Loane, Maria; Garne, Ester

    2011-01-01

    This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries ...

  1. Noninvasive detection of macrophages in atherosclerotic lesions by computed tomography enhanced with PEGylated gold nanoparticles

    Directory of Open Access Journals (Sweden)

    Qin J

    2014-12-01

    Full Text Available Jinbao Qin,1,* Chen Peng,2,* Binghui Zhao,2,* Kaichuang Ye,1 Fukang Yuan,1 Zhiyou Peng,1 Xinrui Yang,1 Lijia Huang,1 Mier Jiang,1 Qinghua Zhao,3 Guangyu Tang,2 Xinwu Lu1,4 1Department of Vascular Surgery, Shanghai Ninth People’s Hospital Affiliated to Shanghai JiaoTong University, School of Medicine; 2Department of Radiology, Shanghai Tenth People’s Hospital Affiliated to Tongji University, School of Medicine; 3Department of Orthopaedics, Shanghai First People’s Hospital, School of Medicine, Shanghai Jiao Tong University; 4Vascular Center of Shanghai JiaoTong University, Shanghai, People’s Republic of China *These authors contributed equally to this work Abstract: Macrophages are becoming increasingly significant in the progression of atherosclerosis (AS. Molecular imaging of macrophages may improve the detection and characterization of AS. In this study, dendrimer-entrapped gold nanoparticles (Au DENPs with polyethylene glycol (PEG and fluorescein isothiocyanate (FI coatings were designed, tested, and applied as contrast agents for the enhanced computed tomography (CT imaging of macrophages in atherosclerotic lesions. Cell counting kit-8 assay, fluorescence microscopy, silver staining, and transmission electron microscopy revealed that the FI-functionalized Au DENPs are noncytotoxic at high concentrations (3.0 µM and can be efficiently taken up by murine macrophages in vitro. These nanoparticles were administered to apolipoprotein E knockout mice as AS models, which demonstrated that the macrophage burden in atherosclerotic areas can be tracked noninvasively and dynamically three-dimensionally in live animals using micro-CT. Our findings suggest that the designed PEGylated gold nanoparticles are promising biocompatible nanoprobes for the CT imaging of macrophages in atherosclerotic lesions and will provide new insights into the pathophysiology of AS and other concerned inflammatory diseases. Keywords: atherosclerosis, CT, in vivo

  2. A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability.

    Science.gov (United States)

    Rigola, Maria A; Baena, Neus; Català, Vicenç; Lozano, Iris; Gabau, Elisabet; Guitart, Miriam; Fuster, Carmen

    2015-01-01

    Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis. Molecular cytogenetic methods defined the size of the inversion as 11.7 Mb and excluded other unbalanced chromosomal alterations in the patients. Our findings suggest that intellectual disability is caused by dysfunction, disruption, or position effects of genes located at or near the breakpoints involved in this inversion. © 2015 S. Karger AG, Basel.

  3. Applications in Bioastronautics and Bioinformatics: Early Radiation Cataracts Detected by Noninvasive, Quantitative, and Remote Means

    Science.gov (United States)

    Ansari, Rafat R.; King, James F.; Giblin, Frank J.

    2000-01-01

    (transparent) to several micrometers (cloudy). Ansari and Datiles have shown that DLS can detect cataracts at least two to three orders of magnitude earlier noninvasively and quantitatively than the best imaging (Scheimpflug) techniques in clinical use today (ref. 3).

  4. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    DEFF Research Database (Denmark)

    Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

    2004-01-01

    OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...... individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (SPG4) was completely sequenced. RESULTS: A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified...... in the affected father and in the fetal DNA. CONCLUSIONS: This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4). In addition, we report a novel SPG4-combined small insertion/deletion mutation in exon 5, which may be the first SPG4 mutational hot spot....

  5. Pyrophosphate scintigraphy and other non-invasive methods in the detection of cardiac involvement in some systemic connective tissue diseases

    Energy Technology Data Exchange (ETDEWEB)

    Duska, F.; Bradna, P.; Pospisil, M.; Kubicek, J.; Vizda, J.; Kafka, P.; Palicka, V.; Mazurova, Y.

    1987-02-01

    Thirteen patients with systemic lupus erythematosus, 8 patients with polymyositis, and 6 patients with spondylitis ankylopoetica (Bechterew's disease) underwent clinical cardiologic examination and scintigraphy of the myocardium (/sup 99m/Tc-pyrophosphate), ECG, echocardiography, polygraphy, and their blood pressure was taken. The aim of the study was to ascertain how such a combination of non-invasive examinations can help in recognizing a cardiac involvement. In systemic lupus erythematosus cases one or more positive findings were revealed in 9 patients (69%), in 4 patients all examinations were negative (31%). Four patients (50%) with polymyosits had positive findings. In patients with spondylitis ankylopoetica positive findings occurred in 2 cases (33%). The study has shown that a combination of non-invasive cardiologic methods increases the probability of detecting cardiac involvement in systemic connective tissue diseases.

  6. Pyrophosphate scintigraphy and other non-invasive methods in the detection of cardiac involvement in some systemic connective tissue diseases

    Energy Technology Data Exchange (ETDEWEB)

    Duska, F; Bradna, P; Pospisil, M; Kubicek, J; Vizda, J; Kafka, P; Palicka, V; Mazurova, Y

    1987-02-01

    Thirteen patients with systemic lupus erythematosus, 8 patients with polymyositis, and 6 patients with spondylitis ankylopoetica (Bechterew's disease) underwent clinical cardiologic examination and scintigraphy of the myocardium (/sup 99m/Tc-pyrophosphate), ECG, echocardiography, polygraphy, and their blood pressure was taken. The aim of the study was to ascertain how such a combination of non-invasive examinations can help in recognizing a cardiac involvement. In systemic lupus erythematosus cases one or more positive findings were revealed in 9 patients (69%), in 4 patients all examinations were negative (31%). Four patients (50%) with polymyosits had positive findings. In patients with spondylitis ankylopoetica positive findings occurred in 2 cases (33%). The study has shown that a combination of non-invasive cardiologic methods increases the probability of detecting cardiac involvement in systemic connective tissue diseases.

  7. A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH

    DEFF Research Database (Denmark)

    Becher, Naja; Gjørup, Vibike; Christensen, Rikke

    2012-01-01

    A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH......A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH...

  8. Detection of Volatile Compounds Emitted from Nasal Secretions and Serum: Towards Non-Invasive Identification of Diseased Cattle Biomarkers

    Directory of Open Access Journals (Sweden)

    Devin L. Maurer

    2018-03-01

    Full Text Available Non-invasive diagnostics and finding biomarkers of disease in humans have been a very active research area. Some of the analytical technologies used for finding biomarkers of human disease are finding their use in livestock. Non-invasive sample collection from diseased cattle using breath and headspace of fecal samples have been reported. In this work, we explore the use of volatile organic compounds (VOCs emitted from bovine nasal secretions and serum for finding biomarkers for bovine respiratory disease (BRD. One hundred nasal swabs and 100 serum samples (n = 50 for both ‘sick’ and ‘healthy’ were collected at the time of treatment for suspected BRD. Solid-phase microextraction (SPME was used to collect headspace samples that were analyzed using gas chromatography-mass spectrometry (GC-MS. It was possible to separate sick cattle using non-invasive analyses of nasal swabs and also serum samples by analyzing and comparing volatiles emitted from each group of samples. Four volatile compounds were found to be statistically significantly different between ‘sick’ and ‘normal’ cattle nasal swabs samples. Five volatile compounds were found to be significantly different between ‘sick’ and ‘normal’ cattle serum samples, with phenol being the common marker. Future studies are warranted to improve the extraction efficiency targeting VOCs preliminarily identified in this study. These findings bring us closer to the long-term goal of real-time, animal-side detection and separation of sick cattle.

  9. Noninvasive murine glioma detection improved following photobleaching of skin PpIX fluorescence

    Science.gov (United States)

    Gibbs-Strauss, Summer L.; Davis, Scott C.; O'Hara, Julia A.; Hoopes, P. Jack; Hasan, Tayyaba; Pogue, Brian W.

    2008-02-01

    Aminolevulinic Acid (ALA) is a prodrug which can be administered to cells, animals or patients after which it is transformed via the Heme synthesis pathway into the fluorescent molecule Protoporphyrin IX (PpIX). PpIX has been shown to be useful as both a photosensitizer for photodynamic therapy (PDT) and as a fluorescence imaging contrast agent. The ALA-PpIX system not only provides contrast for fluorescence imaging but also gives information about the metabolic activity of the imaged tissue and thus could be useful for monitoring cancer therapy. In the current study skin photobleaching was examined to determine if PpIX fluorescence contrast in malignant brain tumors could be better visualized noninvasively. Red light photobleaching decreased skin PpIX fluorescence and increased the ability to noninvasively quantify PpIX fluorescence in murine gliomas, as in vivo measurements of mean PpIX fluorescence more closely matched ex vivo quantification following skin photobleaching. Three doses of blue light photobleaching (4 J/cm2, 8 J/cm2 and 12 J/cm2) were tested and determined to give similar levels of skin photobleaching as well as a similar window of decreased skin PpIX fluorescence for noninvasive fluorescence imaging following the photobleaching dose administration.

  10. Prenatal Tests

    Science.gov (United States)

    ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Report Cards Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  11. Non-invasive optical detection of glucose in cell culture nutrient medium

    Science.gov (United States)

    Cote, Gerald L.

    1993-01-01

    The objective of the proposed research was to begin the development of a non-invasive optical sensor for measuring glucose concentration in the output medium of cell cultures grown in a unique NASA bioreactor referred to as an integrated rotating-wall vessel (IRWV). The input, a bovine serum based nutrient media, has a known glucose concentration. The cells within the bioreactor digest a portion of the glucose. Thus, the non-invasive optical sensor is needed to monitor the decrease in glucose due to cellular consumption since the critical parameters for sustained cellular productivity are glucose and pH. Previous glucose sensing techniques have used chemical reactions to quantify the glucose concentration. Chemical reactions, however, cannot provide for continuous, real time, non-invasive measurement as is required in this application. Our effort while in the fellowship program was focused on the design, optical setup, and testing of one bench top prototype non-invasive optical sensor using a mid-infrared absorption spectroscopy technique. Glucose has a fundamental vibrational absorption peak in the mid-infrared wavelength range at 9.6 micron. Preliminary absorption data using a CO2 laser were collected at this wavelength for water based glucose solutions at different concentrations and one bovine serum based nutrient medium (GTSF) with added glucose. The results showed near linear absorption responses for the glucose-in-water data with resolutions as high at 108 mg/dl and as low as 10 mg/dl. The nutrient medium had a resolution of 291 mg/dl. The variability of the results was due mainly to thermal and polarization drifts of the laser while the decrease in sensitivity to glucose in the nutrient medium was expected due to the increase in the number of confounders present in the nutrient medium. A multispectral approach needs to be used to compensate for these confounders. The CO2 laser used for these studies was wavelength tunable (9.2 to 10.8 micrometers), however

  12. Maternal serum protein profile and immune response protein subunits as markers for non-invasive prenatal diagnosis of trisomy 21, 18, and 13

    KAUST Repository

    Narasimhan, Kothandaraman

    2013-02-01

    Objectives: To use proteomics to identify and characterize proteins in maternal serum from patients at high-risk for fetal trisomy 21, trisomy 18, and trisomy 13 on the basis of ultrasound and maternal serum triple tests. Methods: We performed a comprehensive proteomic analysis on 23 trisomy cases and 85 normal cases during the early second trimester of pregnancy. Protein profiling along with conventional sodium dodecyl sulfate polyacrylamide gel electrophoresis/Tandem mass spectrometry analysis was carried out to characterize proteins associated with each trisomy condition and later validated using Western blot. Results: Protein profiling approach using surface enhanced laser desorption/ionization time-of-flight mass (SELDI-TOF/MS) spectrometry resulted in the identification of 37 unique hydrophobic proteomic features for three trisomy conditions. Using sodium dodecyl sulfate polyacrylamide gel electrophoresis followed by Matrix Assisted Laser Desorption Ionization - Time of Flight/Time of Flight (MALDI-TOF/TOF) and western blot, glyco proteins such as alpha-1-antitrypsin, apolipoprotein E, apolipoprotein H, and serum carrier protein transthyretin were identified as potential maternal serum markers for fetal trisomy condition. The identified proteins showed differential expression at the subunit level. Conclusions: Maternal serum protein profiling using proteomics may allow non-invasive diagnostic testing for the most common trisomies and may complement ultrasound-based methods to more accurately determine pregnancies with fetal aneuploidies. © 2013 John Wiley & Sons, Ltd.

  13. Innovative Design of a Laparoscopic Probe for Non-Invasive Intraoperative Detection of Small Endoluminal Digestive Tumours

    Directory of Open Access Journals (Sweden)

    Bogdan Mocan

    2015-12-01

    Full Text Available The present paper highlights the design methodology, the prototype development and the ex-vivo testing of a sensing laparoscopic probe that could be used by surgeons and by surgeon’s assistive robotic systems for detection of small endoluminal digestive tumours. The proposed design framework guides the decision-makers towards a superior balance between quality, efficiency and surgical procedure issues in medical instruments development. A prototype of the sensitive laparoscopic probe for non-invasive intraoperative detection of small endoluminal digestive tumours was developed. The prototype was tested in ex-vivo experimental conditions – open and laparoscopic surgery. The results reveals that the developed prototype is easy to use, adequate and efficient in precise detection of small endoluminal digestive tumours in-between 60÷85% of cases.

  14. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome

    DEFF Research Database (Denmark)

    Boyd, P A; Devigan, C; Khoshnood, B

    2008-01-01

    tube defects (NTDs) using the EUROCAT database. MAIN OUTCOME MEASURES: Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. RESULTS: Ten of the 18 countries had a national country-wide policy for Down...... cases. Six of the 18 countries had a legal gestational age limit for TOPFA, and in two countries, termination of pregnancy was illegal at any gestation. CONCLUSIONS: There are large differences in screening policies between countries in Europe. These, as well as organisational and cultural factors...

  15. The role of non-invasive biomarkers in detecting acute respiratory effects of traffic-related air pollution.

    Science.gov (United States)

    Scarpa, M C; Kulkarni, N; Maestrelli, P

    2014-09-01

    The role of non-invasive methods in the investigation of acute effects of traffic-related air pollution is not clearly established. We evaluated the usefulness of non-invasive biomarkers in detecting acute air pollution effects according to the age of participants, the disease status, their sensitivity compared with lung function tests and their specificity for a type of pollutant. Search terms lead to 535 titles, among them 128 had potentially relevant abstracts. Sixtynine full papers were reviewed, while 59 articles were excluded as they did not meet the selection criteria. Methods used to assess short-term effects of air pollution included analysis of nasal lavage (NAL) for the upper airways, and induced sputum (IS), exhaled breath condensate (EBC) and exhaled nitric oxide (FeNO) for central and lower airways. There is strong evidence that FeNO evaluation is useful independently from subject age, while IS analysis is suitable almost for adults. Biomarker changes are generally observed upon pollutant exposure irrespective of the disease status of the participants. None of the biomarkers identified are specific for a type of pollutant exposure. Based on experimental exposure studies, there is moderate evidence that IS analysis is more sensitive than lung function tests, whereas this is not the case for biomarkers obtained by NAL or EBC. Cells and some cytokines (IL-6, IL-8 and myeloperoxidase) have been measured both in the upper respiratory tract (NAL) and in the lower airways (IS). Overall, the response to traffic exposure seems different in the two compartments. In conclusion, this survey of current literature displays the complexity of this research field, highlights the significance of short-term studies on traffic pollution and gives important tips when planning studies to detect acute respiratory effects of air pollution in a non-invasive way. © 2014 John Wiley & Sons Ltd.

  16. Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Yau, Mabel; Khattab, Ahmed; New, Maria I

    2016-06-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

    Science.gov (United States)

    Chitty, L S; Griffin, D R; Meaney, C; Barrett, A; Khalil, A; Pajkrt, E; Cole, T J

    2011-03-01

    To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in maternal plasma. Data on fetuses with a confirmed diagnosis of achondroplasia were obtained from our databases, records reviewed, sonographic features and measurements determined and charts of fetal size constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies. Cases referred to our regional genetics laboratory for molecular diagnosis using cell-free fetal DNA were identified and results reviewed. Twenty-six cases were scanned in our unit. Fetal size charts showed that femur length was usually on or below the 3(rd) centile by 25 weeks' gestation, and always below the 3(rd) by 30 weeks. Head circumference was above the 50(th) centile, increasing to above the 95(th) when compared with normal for the majority of fetuses. The abdominal circumference was also increased but to a lesser extent. Commonly reported sonographic features were bowing of the femora, frontal bossing, short fingers, a small chest and polyhydramnios. Analysis of cell-free fetal DNA in six pregnancies confirmed the presence of the c.1138G > A mutation in the FGRF3 gene in four cases with achondroplasia, but not the two subsequently found to be growth restricted. These data should improve the accuracy of diagnosis of achondroplasia based on sonographic findings, and have implications for targeted molecular confirmation that can reliably and safely be carried out using cell-free fetal DNA. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

  18. Uroepithelial thickening improves detection of vesicoureteral reflux in infants with prenatal hydronephrosis.

    Science.gov (United States)

    Gordon, Zachary N; McLeod, Daryl J; Ching, Christina B; Herz, Daniel B; Bates, D Gregory; Becknell, Brian; Alpert, Seth A

    2016-08-01

    Postnatal evaluation of prenatal hydronephrosis (PNH) often includes a voiding cystourethrogram (VCUG) for VUR assessment. Despite limited supporting data, VCUG is currently recommended if postnatal renal and bladder ultrasound (RBUS) reveals moderate/severe hydronephrosis (HN) or hydroureter (HU). Recent studies have shown VUR is more accurately diagnosed by using certain sonographic findings as criteria for obtaining VCUG. Uroepithelial thickening (UET) of the renal pelvis is a finding associated with high-grade vesicoureteral reflux (HGVUR); however, the clinical significance of UET with PNH has not been studied. We sought to determine if the presence of UET implies increased risk for VUR, and to investigate whether UET can improve the test characteristics of RBUS for VUR. We retrospectively analyzed postnatal RBUS and VCUG findings in infants ≤30 days undergoing evaluation for "prenatal hydronephrosis" over an 11-year period. We used logistic regression to identify factors associated with VUR. Test characteristics of RBUS for HGVUR were compared based on the presence of UET and two criteria sets to define abnormal RBUS. Criteria set 1 consisted of HN SFU grade 3-4 and/or HU; criteria set 2 was defined by the presence of two of following: UET, HU, duplication, and/or renal dysmorphia. Of 135 patients, 39 (29%) had VUR, of whom 16 (41%) had HGVUR. UET was significantly associated with VUR (p < 0.001), and the sensitivity for HGVUR based on UET alone was 94%. On multivariable analysis, UET, HU, duplication, and renal dysmorphia remained significant independent predictors of HGVUR. Compared to criteria 1, using criteria 2 resulted in 43 fewer VCUGs, and significant improvement in sensitivity and specificity for HGVUR (Table). Consistent with previous studies, HN alone on postnatal RBUS has little value in predicting the presence or severity of VUR. This study is the largest known series to evaluate UET in the setting of PNH, and our results demonstrate that UET

  19. Non-invasive detection of murals with pulsed terahertz reflected imaging system

    Science.gov (United States)

    Yuan, Minjie; Sun, Wenfeng; Wang, Xinke; Ye, Jiasheng; Wang, Sen; Zhang, Qunxi; Zhang, Yan

    2015-11-01

    Pulsed terahertz reflected imaging technology has been expected to have great potential for the non-invasive analysis of artworks. In this paper, three types of defects hidden in the plaster used to simulate the cases of defects in the murals, have been investigated by a pulsed terahertz reflected imaging system. These preset defects include a circular groove, a cross-shaped slit and a piece of "Y-type" metal plate built in the plaster. With the terahertz reflective tomography, information about defects has been determined involving the thickness from the surface of sample to the built-in defect, the profile and distribution of the defect. Additionally, three-dimensional analyses have been performed in order to reveal the internal structure of defects. Terahertz reflective imaging can be applied to the defect investigation of the murals.

  20. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

    Science.gov (United States)

    Olney, R S; Hoyme, H E; Roche, F; Ferguson, K; Hintz, S; Madan, A

    2001-11-01

    Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia. Copyright 2001 Wiley-Liss, Inc.

  1. Prenatal screening: current practice, new developments, ethical challenges.

    Science.gov (United States)

    de Jong, Antina; Maya, Idit; van Lith, Jan M M

    2015-01-01

    Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. © 2014 John Wiley & Sons Ltd.

  2. A prospective clinical trial to compare the performance of dried blood spots prenatal screening for Down's syndrome with conventional non-invasive testing technology.

    Science.gov (United States)

    Hu, Huiying; Jiang, Yulin; Zhang, Minghui; Liu, Shanying; Hao, Na; Zhou, Jing; Liu, Juntao; Zhang, Xiaojin; Ma, Liangkun

    2017-03-01

    To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down's syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down's syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples. Partial high-risk pregnant women identified by primary blood testing (n = 38) were also subject to the secondary cfDNA screening. Diagnostic amniocentesis was utilized to confirm the screening results. The true positive rate for Down's syndrome detection was 100% for both blood screening methods; however, the false-positive rate was 3.0% for DBS and 4.0% for serum screening, respectively. DBS correlated well with serum screening on Down's syndrome detection. Three out of 38 primary high-risk women displayed chromosomal abnormalities by cfDNA analysis, which were confirmed by amniocentesis. Either the true detection rate or the false-positive rate for Down's syndrome between DBS and the serum test is comparable. In addition, blood primary screening aligned with secondary cfDNA analysis, a "before and after" two-tier screening strategy, can massively decrease the false-positive rate, which, then, dramatically reduces the demand for invasive diagnostic operation. Impact statement Children born with Down's syndrome display a wide range of mental and physical disability. Currently, there is no effective treatment to ease the burden and anxiety of the Down's syndrome family and the surrounding society. This study is to evaluate the efficiency of dried blood spots against serum screening for Down's syndrome and to construct a two-tier strategy by topping up the fetal

  3. Prenatal detection of structural cardiac defects and presence of associated anomalies: a retrospective observational study of 1262 fetal echocardiograms.

    Science.gov (United States)

    Mone, Fionnuala; Walsh, Colin; Mulcahy, Cecelia; McMahon, Colin J; Farrell, Sinead; MacTiernan, Aoife; Segurado, Ricardo; Mahony, Rhona; Higgins, Shane; Carroll, Stephen; McParland, Peter; McAuliffe, Fionnuala M

    2015-06-01

    The aim of this study is to document the detection of fetal congenital heart defect (CHD) in relation to the following: (1) indication for referral, (2) chromosomal and (3) extracardiac abnormalities. All fetal echocardiograms performed in our institution from 2007 to 2011 were reviewed retrospectively. Indication for referral, cardiac diagnosis based on the World Health Organization International Classification of Diseases tenth revision criteria and the presence of chromosomal and extracardiac defects were recorded. Of 1262 echocardiograms, 287 (22.7%) had CHD. Abnormal anatomy scan in pregnancies originally considered to be at low risk of CHD was the best indicator for detecting CHD (91.2% of positive cardiac diagnoses), compared with other indications of family history (5.6%) or maternal medical disorder (3.1%). Congenital anomalies of the cardiac septa comprised the largest category (n = 89), within which atrioventricular septal defects were the most common anomaly (n = 36). Invasive prenatal testing was performed for 126 of 287 cases, of which 44% (n = 55) had a chromosomal abnormality. Of 232 fetuses without chromosomal abnormalities, 31% had an extracardiac defect (n = 76). Most CHDs occur in pregnancies regarded to be at low risk, highlighting the importance of a routine midtrimester fetal anatomy scan. Frequent association of fetal CHD and chromosomal and extracardiac pathology emphasises the importance of thorough evaluation of any fetus with CHD. © 2015 John Wiley & Sons, Ltd.

  4. Exhaled Breath Markers for Nonimaging and Noninvasive Measures for Detection of Multiple Sclerosis.

    Science.gov (United States)

    Broza, Yoav Y; Har-Shai, Lior; Jeries, Raneen; Cancilla, John C; Glass-Marmor, Lea; Lejbkowicz, Izabella; Torrecilla, José S; Yao, Xuelin; Feng, Xinliang; Narita, Akimitsu; Müllen, Klaus; Miller, Ariel; Haick, Hossam

    2017-11-15

    Multiple sclerosis (MS) is the most common chronic neurological disease affecting young adults. MS diagnosis is based on clinical characteristics and confirmed by examination of the cerebrospinal fluids (CSF) or by magnetic resonance imaging (MRI) of the brain or spinal cord or both. However, neither of the current diagnostic procedures are adequate as a routine tool to determine disease state. Thus, diagnostic biomarkers are needed. In the current study, a novel approach that could meet these expectations is presented. The approach is based on noninvasive analysis of volatile organic compounds (VOCs) in breath. Exhaled breath was collected from 204 participants, 146 MS and 58 healthy control individuals. Analysis was performed by gas-chromatography mass-spectrometry (GC-MS) and nanomaterial-based sensor array. Predictive models were derived from the sensors, using artificial neural networks (ANNs). GC-MS analysis revealed significant differences in VOC abundance between MS patients and controls. Sensor data analysis on training sets was able to discriminate in binary comparisons between MS patients and controls with accuracies up to 90%. Blinded sets showed 95% positive predictive value (PPV) between MS-remission and control, 100% sensitivity with 100% negative predictive value (NPV) between MS not-treated (NT) and control, and 86% NPV between relapse and control. Possible links between VOC biomarkers and the MS pathogenesis were established. Preliminary results suggest the applicability of a new nanotechnology-based method for MS diagnostics.

  5. Quantitative muscle hardness as a noninvasive means for detecting patients at risk of compartment syndromes

    International Nuclear Information System (INIS)

    Steinberg, Bruce; Riel, Ryan; Armitage, Marshal; Berrey, Hudson

    2011-01-01

    The purpose of this project was to study the efficacy of quantitative muscle hardness (QH) curve analysis for noninvasive measurement of muscle compartment interstitial pressure (IMP), and to eliminate the need for a comparison normal QH measurement to determine a pathologic reading. Elevation of IMP may lead to limb compartment syndrome, which may result in irreversible dysfunction, chronic pain and contracture. Two studies were performed by two separate independent examiners on male volunteers, where IMP measurements and QH curves were obtained. QH curves were divided into three parts comparing the third part to the second part using the coefficient of determination (R 2 ). In 205 limb compartments, there were 1432 comparison readings of the IMP versus R 2 . Using receiver operator characteristic curve analysis for all data from both studies, an R 2 cutoff of 0.974 best corresponded to a pathologic IMP of 50 mmHg. For both sets of data and for each compartment tested, the mean IMP values were statistically different (t-test: P < 0.0001) for the group with R 2 values less than 0.974 compared to the group of R 2 values greater than or equal to 0.974. In addition, a pressure prediction model was formulated with a strong overall correlation coefficient of 0.78. The data of this study support that QH analysis is potentially useful for the monitoring of IMP elevation in compartment syndrome

  6. Non-invasive paper-based microfluidic device for ultra-low detection of urea through enzyme catalysis

    Science.gov (United States)

    Suresh, Vignesh; Qunya, Ong; Kanta, Bera Lakshmi; Yuh, Lee Yeong; Chong, Karen S. L.

    2018-03-01

    This work describes the design, fabrication and characterization of a paper-based microfluidic device for ultra-low detection of urea through enzyme catalysis. The microfluidic system comprises an entry port, a fluidic channel, a reaction zone and two electrodes (contacts). Wax printing was used to create fluidic channels on the surface of a chromatography paper. Pre-conceptualized designs of the fluidic channel are wax-printed on the paper substrate while the electrodes are screen-printed. The paper printed with wax is heated to cause the wax reflow along the thickness of the paper that selectively creates hydrophilic and hydrophobic zones inside the paper. Urease immobilized in the reaction zone catalyses urea into releasing ions and, thereby, generating a current flow between the electrodes. A measure of current with respect to time at a fixed potential enables the detection of urea. The methodology enabled urea concentration down to 1 pM to be detected. The significance of this work lies in the use of simple and inexpensive paper-based substrates to achieve detection of ultra-low concentrations of analytes such as urea. The process is non-invasive and employs a less cumbersome two-electrode assembly.

  7. Improved non-invasive Optical Coherence Tomography detection of different engineered nanoparticles in food-mimicking matrices.

    Science.gov (United States)

    Grombe, Ringo; Kirsten, Lars; Mehner, Mirko; Linsinger, Thomas P J; Koch, Edmund

    2016-12-01

    Food industry and regulators require fast and reliable analytical methods for quality control. This especially counts for the detection of engineered nanomaterials (ENMs) in food products. Respective EU regulation is in force, but the development of appropriate methods is still underway. This paper updates the scope of Optical Coherence Tomography (OCT) for ENM/food matrix analysis. A range of nanomaterials and composites - Au@SiO2, Ag, Ag@SiO2 and SiO2 - in a simplified food matrix was investigated. The earlier finding of linear dependencies between concentration in the dispersion and light responses could be reproduced. Being able to analyse non-invasively for a relevant industrial compound such as SiO2, makes OCT an excellent candidate for screening purposes. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. A novel mouse model for multiple myeloma (MOPC315.BM that allows noninvasive spatiotemporal detection of osteolytic disease.

    Directory of Open Access Journals (Sweden)

    Peter O Hofgaard

    Full Text Available Multiple myeloma (MM is a lethal human cancer characterized by a clonal expansion of malignant plasma cells in bone marrow. Mouse models of human MM are technically challenging and do not always recapitulate human disease. Therefore, new mouse models for MM are needed. Mineral-oil induced plasmacytomas (MOPC develop in the peritoneal cavity of oil-injected BALB/c mice. However, MOPC typically grow extramedullary and are considered poor models of human MM. Here we describe an in vivo-selected MOPC315 variant, called MOPC315.BM, which can be maintained in vitro. When injected i.v. into BALB/c mice, MOPC315.BM cells exhibit tropism for bone marrow. As few as 10(4 MOPC315.BM cells injected i.v. induced paraplegia, a sign of spinal cord compression, in all mice within 3-4 weeks. MOPC315.BM cells were stably transfected with either firefly luciferase (MOPC315.BM.Luc or DsRed (MOPC315.BM.DsRed for studies using noninvasive imaging. MOPC315.BM.Luc cells were detected in the tibiofemoral region already 1 hour after i.v. injection. Bone foci developed progressively, and as of day 5, MM cells were detected in multiple sites in the axial skeleton. Additionally, the spleen (a hematopoietic organ in the mouse was invariably affected. Luminescent signals correlated with serum myeloma protein concentration, allowing for easy tracking of tumor load with noninvasive imaging. Affected mice developed osteolytic lesions. The MOPC315.BM model employs a common strain of immunocompetent mice (BALB/c and replicates many characteristics of human MM. The model should be suitable for studies of bone marrow tropism, development of osteolytic lesions, drug testing, and immunotherapy in MM.

  9. Label-free SPR detection of gluten peptides in urine for non-invasive celiac disease follow-up.

    Science.gov (United States)

    Soler, Maria; Estevez, M-Carmen; Moreno, Maria de Lourdes; Cebolla, Angel; Lechuga, Laura M

    2016-05-15

    Motivated by the necessity of new and efficient methods for dietary gluten control of celiac patients, we have developed a simple and highly sensitive SPR biosensor for the detection of gluten peptides in urine. The sensing methodology enables rapid and label-free quantification of the gluten immunogenic peptides (GIP) by using G12 mAb. The overall performance of the biosensor has been in-depth optimized and evaluated in terms of sensitivity, selectivity and reproducibility, reaching a limit of detection of 0.33 ng mL(-1). Besides, the robustness and stability of the methodology permit the continuous use of the biosensor for more than 100 cycles with excellent repeatability. Special efforts have been focused on preventing and minimizing possible interferences coming from urine matrix enabling a direct analysis in this fluid without requiring extraction or purification procedures. Our SPR biosensor has proven to detect and identify gluten consumption by evaluating urine samples from healthy and celiac individuals with different dietary gluten conditions. This novel biosensor methodology represents a novel approach to quantify the digested gluten peptides in human urine with outstanding sensitivity in a rapid and non-invasive manner. Our technique should be considered as a promising opportunity to develop Point-of-Care (POC) devices for an efficient, simple and accurate gluten free diet (GFD) monitoring as well as therapy follow-up of celiac disease patients. Copyright © 2015 Elsevier B.V. All rights reserved.

  10. Noninvasive detection of hepatic lipidosis in dairy cows with calibrated ultrasonographic image analysis.

    Science.gov (United States)

    Starke, A; Haudum, A; Weijers, G; Herzog, K; Wohlsein, P; Beyerbach, M; de Korte, C L; Thijssen, J M; Rehage, J

    2010-07-01

    =100mg of TAG/g of FW), and 0.97 (or=100mg of TAG/g of FW). The CAUS methodology and software for digitally analyzing liver ultrasonographic images is considered feasible for noninvasive screening of fatty liver in dairy herd health programs. Using the single parameter linear regression equation might be ideal for practical applications. Copyright (c) 2010 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  11. Rapid noninvasive detection of experimental atherosclerotic lesions with novel 99mTc-labeled diadenosine tetraphosphates

    Science.gov (United States)

    Elmaleh, David R.; Narula, Jagat; Babich, John W.; Petrov, Artiom; Fischman, Alan J.; Khaw, Ban-An; Rapaport, Eliezer; Zamecnik, Paul C.

    1998-01-01

    The development of a noninvasive imaging procedure for identifying atherosclerotic lesions is extremely important for the clinical management of patients with coronary artery and peripheral vascular disease. Although numerous radiopharmaceuticals have been proposed for this purpose, none has demonstrated the diagnostic accuracy required to replace invasive angiography. In this report, we used the radiolabeled purine analog, 99mTc diadenosine tetraphosphate (Ap4A; AppppA, P1,P4-di(adenosine-5′)-tetraphosphate) and its analogue 99mTc AppCHClppA for imaging experimental atherosclerotic lesions in New Zealand White rabbits. Serial gamma camera images were obtained after intravenous injection of the radiolabeled dinucleotides. After acquiring the final images, the animals were sacrificed, ex vivo images of the aortas were recorded, and biodistribution was measured. 99mTc-Ap4A and 99mTc AppCHClppA accumulated rapidly in atherosclerotic abdominal aorta, and lesions were clearly visible within 30 min after injection in all animals that were studied. Both radiopharmaceuticals were retained in the lesions for 3 hr, and the peak lesion to normal vessel ratio was 7.4 to 1. Neither of the purine analogs showed significant accumulation in the abdominal aorta of normal (control) rabbits. The excised aortas showed lesion patterns that were highly correlated with the in vivo and ex vivo imaging results. The present study demonstrates that purine receptors are up-regulated in experimental atherosclerotic lesions and 99mTc-labeled purine analogs have potential for rapid noninvasive detection of plaque formation. PMID:9435254

  12. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Francesca Romana Grati

    2014-07-01

    Full Text Available Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS of a prenatal diagnosis laboratory the following items are discussed: (i The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM; (ii The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-direct preparation or long term culture; and (v The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS.

  13. Exercise, stress or what. The non-invasive detection of latent coronary artery disease

    International Nuclear Information System (INIS)

    Coltart, J.; Robinson, P.S.

    1978-01-01

    This communication discusses the methods of detecting latent coronary artery disease in an entirely asymptomatic individual with no previous symptoms or signs suggestive of coronary artery disease. Isotope techniques are being increasingly employed in the detection and assessment of coronary artery disease in that they may enable the confirmation of the presence of ischaemia, the extent and location of the underlying coronary artery disease and the effect of ischaemia on overall and regional left ventricular function. Three groups of techniques are commonly employed: 1. assessment of myocardial perfusion; 2. labelling of acute myocardial infarction; 3. overall and regional left ventricular function studies. Isotopes of potassium were initially studied, and, despite technical problems with imaging, 43 K has proved a useful agent in that over a range of coronary flow rates from normal to severely reduced flow, myocardial uptake parallels myocardial blood flow. Myocardial perfusion imaging should enhance the sensitivity and specificity of exercise testing in the symptomatic population and should also be helpful in the asymptomatic population although data on such populations are as yet extremely limited. Acute infarct labelling has little relevance to the very early detection of coronary artery disease. Assessment of overall and regional left ventricular function using gated blood pool scanning at rest and possibly also during exercise has potentially very wide applications in ischaemic heart disease and in combination with myocardial perfusion scanning in the assessment of symptomatic ischaemic heart disease and the detection of ischaemia and coronary artery disease in the asymptomatic population. (Auth.)

  14. Discordant non-invasive prenatal testing (NIPT)

    DEFF Research Database (Denmark)

    Hartwig, Tanja Schlaikjaer; Ambye, Louise; Sørensen, Steen

    2017-01-01

    biological or technical explanation for the discordant result. The included cases represent only a minor part of the true number of false positive or false negative NIPT cases identified in fetal medicine clinics around the world. To ensure knowledge exchange and transparency of NIPT between laboratories, we...... suggest a systematic recording of discordant NIPT results, as well as a quality assurance by external quality control and accreditation. © 2017 John Wiley & Sons, Ltd....

  15. Urinary high molecular weight matrix metalloproteinases as non-invasive biomarker for detection of bladder cancer

    OpenAIRE

    Mohammed, Mohammed A; Seleim, Manar F; Abdalla, Mohga S; Sharada, Hayat M; Abdel Wahab, Abdel Hady A

    2013-01-01

    Background Matrix Metalloproteinases (MMPs) are key molecules for tumor growth, invasion and metastasis. Over-expression of different MMPs in tumor tissues can disturb the homeostasis and increase the level of various body fluids. Many MMPs including high molecular weights (HMWs) were detected in the urine of prostate and bladder cancer patients. Our aim here is to assess the usefulness of HMW MMPs as non invasive biomarkers in bilharzial bladder cancer in Egyptian patients. Methods The activ...

  16. Non-invasive method for in vivo detection of chlorophyll precursors

    DEFF Research Database (Denmark)

    Kristiansen, Kim Anker; Khrouchtchova, Anastassia; Stenbæk, Anne

    2009-01-01

    Traditionally chlorophyll (Chl) and Chl precursors have been studied in vitro or in leaf tissue at low temperature. These methods are destructive and make it impossible to work with the same individual plant later on. In this paper we present a method for in vivo detection of Chl and its precursors...... is compared to current methods. Furthermore, we report on optimization of the spectral scanning method with the aim to minimize the excitation light-evoked photo-conversion of the chlorophyll precursors....

  17. Noninvasive Characterization of Indeterminate Pulmonary Nodules Detected on Chest High-Resolution Computed Tomography

    Science.gov (United States)

    2017-10-01

    Chest High- Resolution Computed Tomography 5b. GRANT NUMBER W81XWH-15-1-0110 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Fabien Maldonado 5d. PROJECT...Selection of cancer cases and controls, flowcharts : Screen-detected lung cancers (N=649) Adenocarcinomas (N=353) Squamous cell carcinomas (N=136...during the process, and I hope everyone has a nice weekend! Best, Liz …… Elizabeth S. Moses, Ph.D. | Scientific Program Manager, DECAMP Boston

  18. Noninvasive detection of coronary artery bypass graft patency by intravenous electron beam computed tomographic angiography.

    Science.gov (United States)

    Yamakami, Shoji; Toyama, Junji; Okamoto, Mitsuhiro; Matsushita, Toyoaki; Murakami, Yoshimasa; Ogata, Masaki; Ito, Shigenori; Fukutomi, Tatsuya; Okayama, Naotsuka; Itoh, Makoto

    2003-11-01

    This study evaluates the usefullness of intravenous electron beam computed tomographic angiography (EBA) for the detection of coronary artery bypass graft patency in 43 patients (33 men and 10 women, mean age, 65 years) who had coronary artery bypass graft surgery. EBA was performed a few days before selective bypass graft angiography (SGA). Forty axial cross-sections of angiographic images of the heart were acquired consecutively by an electrocardiographic trigger signal at 40% of the RR interval, which corresponds to the end-systolic phase. EBA data were reconstructed as a three-dimensional shaded surface display of the heart and bypass grafts. Detectability of the patency of bypass gratis was evaluated, taking selective angiographic images of the bypass grafts as a gold standard. One hundred and nine grafts (96%) out of 114 grafts were subjected to evaluation: 37 grafts were left internal mammary artery grafts (LIMA), 7 were right internal mammary artery grafts (RIMA), 6 were gastroepiploic artery grafts (GEA), 7 were free gastroepiploic artery grafts with venous drainage (free-GEA), 7 were radial artery grafts (RAG), and 45 were saphenous vein gratis (SVG). The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of EBA were 98%, 100%, 100%, 91%, and 98%, respectively. EBA sampled at the end-systolic period was determined to be useful for the detection of coronary artery bypass graft patency and occlusion.

  19. Validation of a simplified carbon-14-urea breath test for routine use for detecting Helicobacter pylori noninvasively

    International Nuclear Information System (INIS)

    Henze, E.; Malfertheiner, P.; Clausen, M.; Burkhardt, H.; Adam, W.E.

    1990-01-01

    A carbon-14 ( 14 C) urea breath test for detecting Helicobacter pylori with multiple breath sampling was developed. Carbon-14-urea (110 kBq) administered orally to 18 normal subjects and to 82 patients with Helicobacter infection. The exhaled 14 C-labeled CO 2 was trapped at 10-min intervals for 90 min. The total 14 C activity exhaled over 90 min was integrated and expressed in %activity of the total dose given. In normals, a mean of 0.59% +/- 0.24% was measured, resulting in an upper limit of normal of 1.07%. In 82 patients, a sensitivity of 90.2%, a specificity of 83.8%, and a positive predictive value of 90.2% was found. The single probes at intervals of 40-60 min correlated best with the integrated result, with r ranging from 0.986 to 0.990. The test's diagnostic accuracy did not change at all when reevaluated with the 40-, 50-, or 60-min sample data alone. Thus, the 14 C-urea breath test can be applied routinely as a noninvasive, low-cost and one-sample test with high diagnostic accuracy in detecting Helicobacter pylori colonization

  20. Noninvasive detection of coronary abnormalities in pediatric patients with Kawassaki disease using multi-slice spiral CT

    International Nuclear Information System (INIS)

    Hou Yang; Guo Wenli; Yue Yong; Chen Liying; Guo Qiyong; Yu Xianyi; Wang Hong

    2006-01-01

    Objective: To evaluate the feasibility and value of detecting coronary artery lesions in Kawasaki disease using multi-slice computed tomography (MSCT). Methods: Thirty-four pediatric patients underwent 16-slice or 64-slice CT coronary, angiography. 18 patients were also examined with 2 dimension echocardiography (2DE). In all cases, visibility of coronary artery segment was recorded. The diameter of the LCA, RCA were measured in MSCTA and compared with 2DE. Correlation coefficient of dimension and coincidence rate of two methods were calculated. Results: Coronary artery lesions were found in 14 patients (22 branches) of the 34 cases with KD on MSCT. Six cases were dialated, 3 cases were dialated with aneurysms, 2 cases had aneurysms without dialation. Coronary artery stenosis in 1 eases, calcification in 2 cases. Three cases had multiple aneurysms with the presence of alternate stenosis that made the artery a bead-like appearance. CC of LM and RCA were 0.85, 0.91, respectively (P>0.05). Three coronary artery aneurysm in the distal RCA was missed by 2DE. MSCT could not detect slight or moderate mitral regurgitation in 2 patients and artery wall thickening in 5 patients. Conclusion: MSCT would be an effective complementary or alternative method for CDEC to evaluate coronary artery lesions non-invasively in pediatric patients with Kawasaki disease. (authors)

  1. Diagnostic value of Gd-EOB-DTPA-enhanced MR cholangiography in non-invasive detection of postoperative bile leakage.

    Science.gov (United States)

    Kul, Melahat; Erden, Ayşe; Düşünceli Atman, Ebru

    2017-04-01

    To assess the diagnostic value of dynamic T 1 weighted (T1w) gadolinium ethoxybenzyl diethylenetriamine penta-acetic acid (Gd-EOB-DTPA)-enhanced MR cholangiography (MRC) for the detection of active bile leaks. A total of 28 patients with suspected biliary leakage who underwent routine T 2 weighted (T2w) MRC and T1w GD-EOB-DTPA-enhanced MRC at our institution from February 2013 to June 2016 were included in this study. The image sets were retrospectively analyzed in consensus by three radiologists. T1w Gd-EOB-DTPA-enhanced MRC findings were correlated with clinical data, follow-up examinations and findings of invasive/surgical procedures. Patients with positive bile leak findings in Gd-EOB-DTPA-enhanced MRC were divided into hepatobiliary phase (HBP) (20-30 min) and delayed phase (DP) (60-390 min) group according to elapsed time between Gd-EOB-DTPA injection and initial bile leak findings in MRC images. These groups were compared in terms of laboratory test results (total bilirubin, liver enzymes) and the presence of bile duct dilatation in T2w MRC images. In each patient, visualization of bile ducts was sufficient in the HBP. The accuracy, sensitivity and specificity of dynamic Gd-EOB-DTPA-enhanced T1w MRC in the detection of biliary leaks were 92.9%, 90.5% and 100%, respectively (p  0.05). Three patients, each of them in DP group, showed normal laboratory test results and bile duct diameters. Dynamic T1w Gd-EOB-DTPA-enhanced MRC is a useful non-invasive diagnostic tool to detect bile leak. Advances in knowledge: Prolonged DP imaging may be required for bile leak detection even if visualization of biliary tree is sufficient in HBP and liver function tests, total bilirubin levels and bile duct diameters are normal.

  2. In-situ non-invasive device for early detection of fouling in aquatic systems

    KAUST Repository

    Fortunato, Luca

    2017-01-05

    An in-situ, non-destructive sensor device, system and method are provided to detect or assess fouling at a very early stage of development. They can be used to detect or assess fouling on a surface of an aquatic system. They can be used to obtain a depth profile of the fouling. Data concerning the depth profile can be extracted and used to assess the fouling on the surface, in one or more aspects, the method can include providing an optical tomography spectrometer; optically positioning the optical tomography spectrometer in association with a surface of an area to be assessed for fouling in an aqueous system; irradiating the surface; acquiring, from irradiating the surface, a plurality of signals as a function of a distance from the surface at different times; extracting data from the signals as a function of the distance to obtain a depth profile of the surface at the different times; and determining a change in the depth profile between the different times to assess fouling on the surface.

  3. Non-invasive Detection of Human Body Liquor Intake Based on Optical Biosensor

    Directory of Open Access Journals (Sweden)

    Abaoag Christian Jhoart

    2018-01-01

    Full Text Available Alcohol-related incidents are increasing despite the implementation of RA 10586, the Anti-Drunk or Drugged Driving Act of 2013. Conventionally, blood alcohol content (BAC is tested by gas chromatography or breathalyzers. This work aims to design and fabricate a paper-strip based sensor for the detection of alcohol using saliva as biomedium. The sensor will act as an alternative alcohol detection platform, which will provide low cost analysis of BAC. Different tests were undergone using p-nitrophenol, PNP, as recognition element, which include stability, repeatability, and sensitivity. In order to establish the change of PNP in the presence of alcohol, a UV-Vis spectrophotometer was used. For stability and repeatability, an RSD of 1.24% and 4.61% were obtained, respectively. Furthermore, the sensitivity to alcohol concentration was found to have an R2 value equal to 0.987. For the paper-strip application, 10 mm x 60 mm optical sensing membrane (OSM with immobilized PNP was prepared. It is analysed through the use of digital image captured by a smartphone camera. The RGB values are then measured using the ImageJ software application. The stability, repeatability, and sensitivity of biosensor are 1.85% RSD, 2.23% RSD, and 0.9731 coefficient of linearity, respectively. This method is a promising alternative to breathalyzer.

  4. Prenatal Tests

    Science.gov (United States)

    ... tests are considered routine — that is, almost all pregnant women receiving prenatal care get them. They include things like checking urine (pee) levels for protein, sugar, or signs of infection. Other non-routine ...

  5. Noninvasive fetal QRS detection using an echo state network and dynamic programming.

    Science.gov (United States)

    Lukoševičius, Mantas; Marozas, Vaidotas

    2014-08-01

    We address a classical fetal QRS detection problem from abdominal ECG recordings with a data-driven statistical machine learning approach. Our goal is to have a powerful, yet conceptually clean, solution. There are two novel key components at the heart of our approach: an echo state recurrent neural network that is trained to indicate fetal QRS complexes, and several increasingly sophisticated versions of statistics-based dynamic programming algorithms, which are derived from and rooted in probability theory. We also employ a standard technique for preprocessing and removing maternal ECG complexes from the signals, but do not take this as the main focus of this work. The proposed approach is quite generic and can be extended to other types of signals and annotations. Open-source code is provided.

  6. Noninvasive fetal QRS detection using an echo state network and dynamic programming

    International Nuclear Information System (INIS)

    Lukoševičius, Mantas; Marozas, Vaidotas

    2014-01-01

    We address a classical fetal QRS detection problem from abdominal ECG recordings with a data-driven statistical machine learning approach. Our goal is to have a powerful, yet conceptually clean, solution. There are two novel key components at the heart of our approach: an echo state recurrent neural network that is trained to indicate fetal QRS complexes, and several increasingly sophisticated versions of statistics-based dynamic programming algorithms, which are derived from and rooted in probability theory. We also employ a standard technique for preprocessing and removing maternal ECG complexes from the signals, but do not take this as the main focus of this work. The proposed approach is quite generic and can be extended to other types of signals and annotations. Open-source code is provided. (paper)

  7. The non-invasive detection of intracranial aneurysms: are neuroradiologists any better than other observers?

    Energy Technology Data Exchange (ETDEWEB)

    White, Philip M. [University Department of Neurosurgery and Department of Neuroradiology, Institute of Neurological Sciences, Southern General Hospital, Glasgow G52 4TF (United Kingdom); Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU (United Kingdom); Wardlaw, Joanna M. [Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU (United Kingdom); Lindsay, Kenneth W.; Sloss, Stuart; Teasdale, Evelyn M. [University Department of Neurosurgery and Department of Neuroradiology, Institute of Neurological Sciences, Southern General Hospital, Glasgow G52 4TF (United Kingdom); Patel, Dilip K.B. [Department of Radiology, Royal Infirmary of Edinburgh, Lauriston Place, Edinburgh EH4 2XU (United Kingdom)

    2003-02-01

    Can non-neuroradiologists detect intracranial aneurysms as well as neuroradiologists, using CT and MR angiography? Sixty patients undergoing intra-arterial digital subtraction angiography (IADSA) to detect aneurysms also underwent computed tomographic angiography (CTA) and time-of-flight magnetic resonance angiography (MRA). Consensus review of IADSA by two neuroradiologists was the reference standard. Two neuroradiologists, a neurosurgeon, a neuroradiographer and a general radiologist blinded to IADSA, plain CT and clinical data, independently reviewed hard-copy base and reconstructed maximum intensity projection images of the CTA and MRA studies. Thirty patients had a total of 63 aneurysms, 71.4% were {<=}5 mm in size. Compared with IADSA, mean accuracy per patient for neuroradiologists was CTA 0.87 (95% CI 0.75-0.94), and MRA 0.82 (0.70-0.90); for the other observers it was CTA 0.81 (0.75-0.86), and MRA 0.78 (0.71-0.84). Sensitivity per aneurysm for neuroradiologists was CTA 0.63 (0.50-0.75), and MRA 0.43 (0.6-0.74); for the other observers it was CTA 0.52 (0.44-0.59), and MRA 0.38 (0.31-0.45). Differences between readers and modalities were not statistically significant. Agreement with IADSA was ''good'' for neuroradiologists: kappa 0.73 for CTA, and 0.63 for MRA. For the other observers, agreement with IADSA was ''moderate'': kappa 0.59 for CTA, and 0.56 for MRA. Neuroradiologists performed consistently better than the other observers, although differences did not reach statistical significance. (orig.)

  8. Magnetization Transfer Magnetic Resonance Imaging Noninvasively Detects Renal Fibrosis in Swine Atherosclerotic Renal Artery Stenosis at 3.0 T.

    Science.gov (United States)

    Jiang, Kai; Ferguson, Christopher M; Woollard, John R; Zhu, Xiangyang; Lerman, Lilach O

    2017-11-01

    Renal fibrosis is a useful biomarker for diagnosis and evaluation of therapeutic interventions of renal diseases but often requires invasive testing. Magnetization transfer magnetic resonance imaging (MT-MRI), which evaluates the presence of macromolecules, offers a noninvasive tool to probe renal fibrosis in murine renal artery stenosis (RAS) at 16.4 T. In this study, we aimed to identify appropriate imaging parameters for collagen detection at 3.0 T MRI and to test the utility of MT-MRI in measuring renal fibrosis in a swine model of atherosclerotic RAS (ARAS). To select the appropriate offset frequency, an MT-MRI study was performed on a phantom containing 0% to 40% collagen I and III with offset frequencies from -1600 to +1600 Hz and other MT parameters empirically set as pulse width at 16 milliseconds and flip angle at 800 degrees. Then selected MT parameters were used in vivo on pigs 12 weeks after sham (n = 8) or RAS (n = 10) surgeries. The ARAS pigs were fed with high-cholesterol diet to induce atherosclerosis. The MT ratio (MTR) was compared with ex vivo renal fibrosis measured using Sirius-red staining. Offset frequencies at 600 and 1000 Hz were selected for collagen detection without direct saturation of free water signal, and subsequently applied in vivo. The ARAS kidneys showed mild cortical and medullary fibrosis by Sirius-red staining. The cortical and medullary MTRs at 600 and 1000 Hz were both increased. Renal fibrosis measured ex vivo showed good linear correlations with MTR at 600 (cortex: Pearson correlation coefficient r = 0.87, P 3.0 T. Therefore, MT-MRI may potentially be clinically applicable and useful for detection and monitoring of renal pathology in subjects with RAS.

  9. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Sandra García-Herrero

    2014-01-01

    Full Text Available The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF or chorionic villus (CV samples based on BACs-on-Beads (BoBs technology and to compare the results with classical karyotyping by Giemsa banding (G-banding of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  10. An economic evaluation of first-trimester genetic sonography for prenatal detection of Down syndrome.

    Science.gov (United States)

    Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T

    1998-04-01

    To determine 1) the diagnostic accuracy requirements of first-trimester genetic sonography from the cost-benefit point of view and 2) the economic impact of first-trimester genetic sonography for the United States on the basis of the accuracy of previously published studies. A cost-benefit equation was developed on the basis of the hypothesis that the cost of chorionic villus sampling (CVS) in pregnant women with advanced maternal age (at least 35 years old) should be at least equal to the cost of genetic sonography with CVS used only for those with abnormal ultrasound results. The components of the equation included the diagnostic accuracy of genetic ultrasound (sensitivity and specificity for detecting Down syndrome), the costs of the CVS package and genetic ultrasound, and the lifetime cost of Down syndrome cases. First-trimester genetic sonography was found to be beneficial if the overall sensitivity for detecting Down syndrome was greater than 70%, and even then, the cost-benefit ratio depended on the corresponding false-positive rate. The required minimum ultrasound sensitivity varied according to the maternal age-specific prevalence of Down syndrome and ranged between 40% (for women 35 years old) to 96% (for women 44 years old). Of eight published cohorts using nuchal translucency thickness for genetic sonography, five had accuracies of genetic ultrasound compatible with net benefits. The benefits of first-trimester genetic sonography depend on its diagnostic accuracy. First-trimester genetic sonography has the potential for annual savings of 22 million dollars in the United States.

  11. Non-Invasive Detection of Respiration and Heart Rate with a Vehicle Seat Sensor.

    Science.gov (United States)

    Wusk, Grace; Gabler, Hampton

    2018-05-08

    This study demonstrates the feasibility of using a seat sensor designed for occupant classification from a production passenger vehicle to measure an occupant’s respiration rate (RR) and heart rate (HR) in a laboratory setting. Relaying occupant vital signs after a crash could improve emergency response by adding a direct measure of the occupant state to an Advanced Automatic Collision Notification (AACN) system. Data was collected from eleven participants with body weights ranging from 42 to 91 kg using a Ford Mustang passenger seat and seat sensor. Using a ballistocardiography (BCG) approach, the data was processed by time domain filtering and frequency domain analysis using the fast Fourier transform to yield RR and HR in a 1-min sliding window. Resting rates over the 30-min data collection and continuous RR and HR signals were compared to laboratory physiological instruments using the Bland-Altman approach. Differences between the seat sensor and reference sensor were within 5 breaths per minute for resting RR and within 15 beats per minute for resting HR. The time series comparisons for RR and HR were promising with the frequency analysis technique outperforming the peak detection technique. However, future work is necessary for more accurate and reliable real-time monitoring of RR and HR outside the laboratory setting.

  12. Detection of Melanoma Metastases in Resected Human Lymph Nodes by Noninvasive Multispectral Photoacoustic Imaging

    Directory of Open Access Journals (Sweden)

    Gerrit Cornelis Langhout

    2014-01-01

    Full Text Available Objective. Sentinel node biopsy in patients with cutaneous melanoma improves staging, provides prognostic information, and leads to an increased survival in node-positive patients. However, frozen section analysis of the sentinel node is not reliable and definitive histopathology evaluation requires days, preventing intraoperative decision-making and immediate therapy. Photoacoustic imaging can evaluate intact lymph nodes, but specificity can be hampered by other absorbers such as hemoglobin. Near infrared multispectral photoacoustic imaging is a new approach that has the potential to selectively detect melanin. The purpose of the present study is to examine the potential of multispectral photoacoustic imaging to identify melanoma metastasis in human lymph nodes. Methods. Three metastatic and nine benign lymph nodes from eight melanoma patients were scanned ex vivo using a Vevo LAZR© multispectral photoacoustic imager and were spectrally analyzed per pixel. The results were compared to histopathology as gold standard. Results. The nodal volume could be scanned within 20 minutes. An unmixing procedure was proposed to identify melanoma metastases with multispectral photoacoustic imaging. Ultrasound overlay enabled anatomical correlation. The penetration depth of the photoacoustic signal was up to 2 cm. Conclusion. Multispectral three-dimensional photoacoustic imaging allowed for selective identification of melanoma metastases in human lymph nodes.

  13. High-resolution magnetic resonance imaging of rotator cuff tears using a microscopy coil. Noninvasive detection without intraarticular contrast material

    International Nuclear Information System (INIS)

    Hitachi, Shin; Takase, Kei; Higano, Shuichi; Takahashi, Shoki; Tanaka, Minoru; Tojo, Yuichi; Tabata, Shiro; Majima, Kazuhiro

    2011-01-01

    The aim of this study was to evaluate the feasibility of high-resolution magnetic resonance imaging (MRI) using a microscopy coil for the diagnosis of rotator cuff tears by comparing the method to conventional MRI and MRI arthrography. A total of 68 shoulders were prospectively studied using a 1.5-T MRI unit. Conventional MRI scans were obtained with a surface coil and high-resolution MRI scans with a microscopy coil. MRI arthrography was performed in 28 shoulders using a surface coil. MRI evaluation of tears of rotator cuff tendons was compared with arthroscopic findings and surgical results. The surgery revealed 40 full-thickness tears, 13 partial-thickness tears, and 15 intact cuffs. In all, 35 (88%) full-thickness tears were correctly diagnosed on conventional MRI and 40 (100%) on high-resolution MRI. MR arthrography delineated 11 of 12 (92%) full-thickness tears. Altogether, 5 (38%) of the partial-thickness tears were detected on conventional MRI, and 12 (92%) were clearly demonstrated on high-resolution MRI. MRI arthrography depicted three (60%) of five partial-thickness tears. High-resolution MRI showed higher sensitivity than conventional MRI (P<0.05) and had values equivalent to those of MRI arthrography for diagnosing partial-thickness tears. High-resolution MRI with a microscopy coil is a feasible, noninvasive technique for diagnosing rotator cuff tears. (author)

  14. Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

    Science.gov (United States)

    Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

    2007-07-01

    To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

  15. Detection of T790M, the acquired resistance EGFR mutation, by tumor biopsy versus noninvasive blood-based analyses

    Science.gov (United States)

    Sundaresan, Tilak K.; Sequist, Lecia V.; Heymach, John V.; Riely, Gregory J.; Jänne, Pasi A.; Koch, Walter H.; Sullivan, James P.; Fox, Douglas B.; Maher, Robert; Muzikansky, Alona; Webb, Andrew; Tran, Hai T.; Giri, Uma; Fleisher, Martin; Yu, Helena A.; Wei, Wen; Johnson, Bruce E.; Barber, Thomas A.; Walsh, John R.; Engelman, Jeffrey A.; Stott, Shannon L.; Kapur, Ravi; Maheswaran, Shyamala; Toner, Mehmet

    2015-01-01

    Purpose The T790M gatekeeper mutation in the Epidermal Growth Factor Receptor (EGFR) is acquired by some EGFR-mutant non-small cell lung cancers (NSCLC) as they become resistant to selective tyrosine kinase inhibitors (TKIs). As third generation EGFR TKIs that overcome T790M-associated resistance become available, noninvasive approaches to T790M detection will become critical to guide management. Experimental Design As part of a multi-institutional Stand-Up-To-Cancer collaboration, we performed an exploratory analysis of 40 patients with EGFR-mutant tumors progressing on EGFR TKI therapy. We compared the T790M genotype from tumor biopsies with analysis of simultaneously collected circulating tumor cells (CTC) and circulating tumor DNA (ctDNA). Results T790M genotypes were successfully obtained in 30 (75%) tumor biopsies, 28 (70%) CTC samples and 32 (80%) ctDNA samples. The resistance-associated mutation was detected in 47–50% of patients using each of the genotyping assays, with concordance among them ranging from 57–74%. While CTC- and ctDNA-based genotyping were each unsuccessful in 20–30% of cases, the two assays together enabled genotyping in all patients with an available blood sample, and they identified the T790M mutation in 14 (35%) patients in whom the concurrent biopsy was negative or indeterminate. Conclusion Discordant genotypes between tumor biopsy and blood-based analyses may result from technological differences, as well as sampling different tumor cell populations. The use of complementary approaches may provide the most complete assessment of each patient’s cancer, which should be validated in predicting response to T790M-targeted inhibitors. PMID:26446944

  16. Non-invasive plant growth measurements for detection of blue-light dose response of stem elongation in Chrysanthemum morifolium

    DEFF Research Database (Denmark)

    Kjær, Katrine Heinsvig

    2012-01-01

    . In the present study a non-invasive plant growth sensor (PlantEye, Phenospex B.V, Heerlen, NL) was tested in analysing changes in diurnal stem elongation patterns and plant height in response to the spectral quality of the light environment. Plants were grown in four different LED supplemental lighting...... treatments with 0%, 12.5%, 18.5% and 22.5% blue light under greenhouse conditions in winter (18 h day/4 h night). The non-invasive measurements were carried out automatically every four hour with three repetitions, and supported by manual measurements of plant height every third day. A strong linear relation...... between the non-invasive measurements and manual measurements of plant height was achieved, and a blue-light dose-response showing a decrease in plant height in relation to an increase in blue light was demonstrated. However, the non-invasive plant growth sensor was not able to distinguish between diurnal...

  17. Prenatal Care.

    Science.gov (United States)

    Health Resources and Services Administration (DHHS/PHS), Rockville, MD. Office for Maternal and Child Health Services.

    This booklet is the first in a series of publications designed to provide parents with useful information about childrearing. Contents are organized into three parts. Part I focuses on the pregnancy, prenatal care, development of the baby, pregnant lifestyles, nutrition, common discomforts, and problems of pregnancy. Part II provides information…

  18. Using non-invasive molecular spectroscopic techniques to detect unique aspects of protein Amide functional groups and chemical properties of modeled forage from different sourced-origins.

    Science.gov (United States)

    Ji, Cuiying; Zhang, Xuewei; Yu, Peiqiang

    2016-03-05

    The non-invasive molecular spectroscopic technique-FT/IR is capable to detect the molecular structure spectral features that are associated with biological, nutritional and biodegradation functions. However, to date, few researches have been conducted to use these non-invasive molecular spectroscopic techniques to study forage internal protein structures associated with biodegradation and biological functions. The objectives of this study were to detect unique aspects and association of protein Amide functional groups in terms of protein Amide I and II spectral profiles and chemical properties in the alfalfa forage (Medicago sativa L.) from different sourced-origins. In this study, alfalfa hay with two different origins was used as modeled forage for molecular structure and chemical property study. In each forage origin, five to seven sources were analyzed. The molecular spectral profiles were determined using FT/IR non-invasive molecular spectroscopy. The parameters of protein spectral profiles included functional groups of Amide I, Amide II and Amide I to II ratio. The results show that the modeled forage Amide I and Amide II were centered at 1653 cm(-1) and 1545 cm(-1), respectively. The Amide I spectral height and area intensities were from 0.02 to 0.03 and 2.67 to 3.36 AI, respectively. The Amide II spectral height and area intensities were from 0.01 to 0.02 and 0.71 to 0.93 AI, respectively. The Amide I to II spectral peak height and area ratios were from 1.86 to 1.88 and 3.68 to 3.79, respectively. Our results show that the non-invasive molecular spectroscopic techniques are capable to detect forage internal protein structure features which are associated with forage chemical properties. Copyright © 2015 Elsevier B.V. All rights reserved.

  19. Non-invasive and high-sensitivity scanning detection of magnetic nanoparticles in animals using high-Tc scanning superconducting-quantum-interference-device biosusceptometry.

    Science.gov (United States)

    Chieh, J J; Hong, C Y

    2011-08-01

    Although magnetic nanoparticles (MNPs) have been widely applied to animals in biomedicine, MNPs within animals should be examined in real time, in vivo, and without bio-damaged possibility to evaluate whether the bio-function of MNPs is valid or to further controls the biomedicinal process because of accompanying complex problems such as MNPs distribution and MNPs biodegradation. The non-invasive and high-sensitivity scanning detection of MNPs in animals using ac susceptometry based on a high-T(c) superconducting quantum interference device (SQUID) is presented. The non-invasive results and biopsy results show good agreement, and two gold-standard biomedicine methods, Prussian blue stain and inductively coupled plasma, prove the magnetic results. This confirms that the future clinical diagnosis of bio-functional MNPs could be operated by using scanning SQUID biosusceptometry as conveniently as an ultrasonic probe.

  20. Prenatal and Postnatal Management of Hydronephrosis

    Science.gov (United States)

    Rao, Pravin K.; Palmer, Jeffrey S.

    2009-01-01

    The majority of pregnant women in the U.S. undergo prenatal ultrasonography and approximately 0.5% of these examinations will detect fetal malformations. Up to one-half of these abnormalities include the genitourinary system and the most common urological finding is hydronephrosis. Some conditions associated with prenatal hydronephrosis portend a poor prognosis, while others can follow a fairly benign course. This review focuses on the definition and prenatal assessment of hydronephrosis, fetal intervention, and postnatal management. PMID:19618087

  1. Noninvasive ventilation.

    Science.gov (United States)

    Rabatin, J T; Gay, P C

    1999-08-01

    Noninvasive ventilation refers to the delivery of assisted ventilatory support without the use of an endotracheal tube. Noninvasive positive pressure ventilation (NPPV) can be delivered by using a volume-controlled ventilator, a pressure-controlled ventilator, a bilevel positive airway pressure ventilator, or a continuous positive airway pressure device. During the past decade, there has been a resurgence in the use of noninvasive ventilation, fueled by advances in technology and clinical trials evaluating its use. Several manufacturers produce portable devices that are simple to operate. This review describes the equipment, techniques, and complications associated with NPPV and also the indications for both short-term and long-term applications. NPPV clearly represents an important addition to the techniques available to manage patients with respiratory failure. Future clinical trials evaluating its many clinical applications will help to define populations of patients most apt to benefit from this type of treatment.

  2. Linkage disequilibria among (CA){sub n} polymorphisms in the human dystrophin gene and their implications in carrier detection and prenatal diagnosis in Duchenne and Becker musclar dystrophies

    Energy Technology Data Exchange (ETDEWEB)

    Chakraborty, R.; Zhong, Y.; Andrade, M. de [Univ. of Texas Graduate School of Biomedical Sciences, Houston, TX (United States)] [and others

    1994-06-01

    Four short tandem repeat loci, characterized by length polymorphisms of (CA){sub n} repeats, have been detected within introns 44, 45, 49, and 50 of the human dystrophin gene. The predicted heterozygosites for these loci range from 72 to 93%, and observed allele numbers range from 6 to 19 in 57 normal chromosomes, revealing their high degree of polymorphism. Evidence for significant disequilibria between the loci within introns 49 and 50 is found. These data appear to be consistent with observations of recombination frequencies between these markers and the length of the intron 44 in relation to the entire region. In addition, these four loci are collectively found to be 100% informative in carrier detection/prenatal diagnosis of Becker and Duchenne muscular dystrophies (B/DMD), whereas scoring the (CA){sub n} markers within introns 45 and 49 alone gives a 99.6% success rate. 13 refs., 4 tabs.

  3. Human prenatal diagnosis

    International Nuclear Information System (INIS)

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis

  4. 1-Butyl-3-Methylimidazolium Tetrafluoroborate Film as a Highly Selective Sensing Material for Non-Invasive Detection of Acetone Using a Quartz Crystal Microbalance.

    Science.gov (United States)

    Tao, Wenyan; Lin, Peng; Liu, Sili; Xie, Qingji; Ke, Shanming; Zeng, Xierong

    2017-01-20

    Breath acetone serves as a biomarker for diabetes. This article reports 1-butyl-3-methylimidazolium tetrafluoroborate ([bmim][BF₄]), a type of room temperature ionic liquid (RTIL), as a selective sensing material for acetone. The RTIL sensing layer was coated on a quartz crystal microbalance (QCM) for detection. The sensing mechanism is based on a decrease in viscosity and density of the [bmim][BF₄] film due to the solubilization of acetone leading to a positive frequency shift in the QCM. Acetone was detected with a linear range from 7.05 to 750 ppmv. Sensitivity and limit of detection were found to be 3.49 Hz/ppmv and 5.0 ppmv, respectively. The [bmim][BF₄]-modified QCM sensor demonstrated anti-interference ability to commonly found volatile organic compounds in breath, e.g., isoprene, 1,2-pentadiene, d -limonene, and dl -limonene. This technology is useful for applications in non-invasive early diabetic diagnosis.

  5. Implementation of an integrating sphere for the enhancement of noninvasive glucose detection using quantum cascade laser spectroscopy

    Science.gov (United States)

    Werth, Alexandra; Liakat, Sabbir; Dong, Anqi; Woods, Callie M.; Gmachl, Claire F.

    2018-05-01

    An integrating sphere is used to enhance the collection of backscattered light in a noninvasive glucose sensor based on quantum cascade laser spectroscopy. The sphere enhances signal stability by roughly an order of magnitude, allowing us to use a thermoelectrically (TE) cooled detector while maintaining comparable glucose prediction accuracy levels. Using a smaller TE-cooled detector reduces form factor, creating a mobile sensor. Principal component analysis has predicted principal components of spectra taken from human subjects that closely match the absorption peaks of glucose. These principal components are used as regressors in a linear regression algorithm to make glucose concentration predictions, over 75% of which are clinically accurate.

  6. Prenatal screening for fetal aneuploidy in singleton pregnancies.

    Science.gov (United States)

    Chitayat, David; Langlois, Sylvie; Douglas Wilson, R

    2011-07-01

    for aneuploidy, and it should not be used a basis for recommending invasive testing when non-invasive prenatal screening for aneuploidy is available. (II-2A) 4. Invasive prenatal diagnosis for cytogenetic analysis should not be performed without multiple marker screening results except for women who are at increased risk of fetal aneuploidy (a) because of ultrasound findings, (b) because the pregnancy was conceived by in vitro fertilization with intracytoplasmic sperm injection, or (c) because the woman or her partner has a history of a previous child or fetus with a chromosomal abnormality or is a carrier of a chromosome rearrangement that increases the risk of having a fetus with a chromosomal abnormality. (II-2E) 5. At minimum, any prenatal screen offered to Canadian women who present for care in the first trimester should have a detection rate of 75% with no more than a 3% false-positive rate. The performance of the screen should be substantiated by annual audit. (III-B) 6. The minimum standard for women presenting in the second trimester should be a screen that has a detection rate of 75% with no more than a 5% false-positive rate. The performance of the screen should be substantiated by annual audit. (III-B) 7. First trimester nuchal translucency should be interpreted for risk assessment only when measured by sonographers or sonologists trained and accredited for this service and when there is ongoing quality assurance (II-2A), and it should not be offered as a screen without biochemical markers in singleton pregnancies. (I-E) 8. Evaluation of the fetal nasal bone in the first trimester should not be incorporated as a screen unless it is performed by sonographers or sonologists trained and accredited for this service and there is ongoing quality assurance. (II-2E) 9. For women who undertake first trimester screening, second trimester serum alpha fetoprotein screening and/or ultrasound examination is recommended to screen for open neural tube defects. (II-1A) 10

  7. Non-invasive detection of candidate pregnancy protein biomarkers in the feces of captive polar bears (Ursus maritimus).

    Science.gov (United States)

    Curry, E; Stoops, M A; Roth, T L

    2012-07-15

    Currently, there is no method of accurately and non-invasively diagnosing pregnancy in polar bears. Specific proteins may exhibit altered profiles in the feces of pregnant bears, but predicting appropriate candidate proteins to investigate is speculative at best. The objective of this study was to identify potential pregnancy biomarker proteins based on their increased abundance in the feces of pregnant polar bears compared to pseudopregnant females (controls) using two-dimensional in-gel electrophoresis (2D-DIGE) and mass spectrometry (MS). Three 2D-DIGE gels were performed to evaluate fecal protein profiles from controls (n=3) and pregnant polar bears (n=3). There were 2224.67±52.39 (mean±SEM) spots resolved per gel. Of these, only five proteins were elevated in the pregnant group (P99.9% confidence interval. The 11 spots represented seven distinct proteins, five of which were significantly more abundant in the pregnant group: IgGFc-binding protein, filamin-C, carboxypeptidase B, transthyretin, and immunoglobulin heavy chain variable region. To our knowledge, this was the first study that employed 2D-DIGE to identify differentially expressed proteins in fecal samples to characterize a physiological condition other than those related to gastrointestinal disorders. These promising results provided a strong foundation for ensuing efforts to develop a non-invasive pregnancy assay for use in both captive and wild polar bears. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Distinction between added-energy and phase-resetting mechanisms in non-invasively detected somatosensory evoked responses.

    Science.gov (United States)

    Fedele, T; Scheer, H-J; Burghoff, M; Waterstraat, G; Nikulin, V V; Curio, G

    2013-01-01

    Non-invasively recorded averaged event-related potentials (ERP) represent a convenient opportunity to investigate human brain perceptive and cognitive processes. Nevertheless, generative ERP mechanisms are still debated. Two previous approaches have been contested in the past: the added-energy model in which the response raises independently from the ongoing background activity, and the phase-reset model, based on stimulus-driven synchronization of oscillatory ongoing activity. Many criteria for the distinction of these two models have been proposed, but there is no definitive methodology to disentangle them, owing also to the limited information at the single trial level. Here, we propose a new approach combining low-noise EEG technology and multivariate decomposition techniques. We present theoretical analyses based on simulated data and identify in high-frequency somatosensory evoked responses an optimal target for the distinction between the two mechanisms.

  9. Low minute ventilation episodes during anesthesia recovery following intraperitoneal surgery as detected by a non-invasive respiratory volume monitor.

    Science.gov (United States)

    Cavalcante, Alexandre N; Martin, Yvette N; Sprung, Juraj; Imsirovic, Jasmin; Weingarten, Toby N

    2017-12-20

    An electrical impedance-based noninvasive respiratory volume monitor (RVM) accurately reports minute volume, tidal volume and respiratory rate. Here we used the RVM to quantify the occurrence of and evaluate the ability of clinical factors to predict respiratory depression in the post-anesthesia care unit (PACU). RVM generated respiratory data were collected from spontaneously breathing patients following intraperitoneal surgeries under general anesthesia admitted to the PACU. Respiratory depression was defined as low minute ventilation episode (LMVe, respiratory rate (respiratory rate was a poor predictor of LMVe (sensitivity = 11.8%). Other clinical variables (e.g., obstructive sleep apnea) were not found to be predictors of LMVe. Using RVM we identified that mild, clinically nondetectable, respiratory depression prior to opioid administration in the PACU was associated with the development of substantial subsequent respiratory depression during the PACU stay.

  10. Non-invasive method to detect the changes of glucose concentration in whole blood using photometric technique.

    Science.gov (United States)

    Rajan, Shiny Amala Priya; Towe, Bruce C

    2014-01-01

    A non-invasive method is developed to monitor rapid changes in blood glucose levels in diabetic patients. The system depends on an optical cell built with a LED that emits light of wavelength 535nm, which is a peak absorbance of hemoglobin. As the glucose concentration in blood decreases, its osmolarity also decreases and the Red Blood Cells (RBCs) swell and decrease the path length absorption coefficient. Decreasing absorption coefficient increases the transmission of light through the whole blood. The system was tested with a constructed optical cell that held whole blood in a capillary tube. As expected the light transmitted to the photodiode increases with decreasing glucose concentration. The average response time of the system was between 30-40 seconds.

  11. Pilot study for supervised target detection applied to spatially registered multiparametric MRI in order to non-invasively score prostate cancer.

    Science.gov (United States)

    Mayer, Rulon; Simone, Charles B; Skinner, William; Turkbey, Baris; Choykey, Peter

    2018-03-01

    Gleason Score (GS) is a validated predictor of prostate cancer (PCa) disease progression and outcomes. GS from invasive needle biopsies suffers from significant inter-observer variability and possible sampling error, leading to underestimating disease severity ("underscoring") and can result in possible complications. A robust non-invasive image-based approach is, therefore, needed. Use spatially registered multi-parametric MRI (MP-MRI), signatures, and supervised target detection algorithms (STDA) to non-invasively GS PCa at the voxel level. This study retrospectively analyzed 26 MP-MRI from The Cancer Imaging Archive. The MP-MRI (T2, Diffusion Weighted, Dynamic Contrast Enhanced) were spatially registered to each other, combined into stacks, and stitched together to form hypercubes. Multi-parametric (or multi-spectral) signatures derived from a training set of registered MP-MRI were transformed using statistics-based Whitening-Dewhitening (WD). Transformed signatures were inserted into STDA (having conical decision surfaces) applied to registered MP-MRI determined the tumor GS. The MRI-derived GS was quantitatively compared to the pathologist's assessment of the histology of sectioned whole mount prostates from patients who underwent radical prostatectomy. In addition, a meta-analysis of 17 studies of needle biopsy determined GS with confusion matrices and was compared to the MRI-determined GS. STDA and histology determined GS are highly correlated (R = 0.86, p < 0.02). STDA more accurately determined GS and reduced GS underscoring of PCa relative to needle biopsy as summarized by meta-analysis (p < 0.05). This pilot study found registered MP-MRI, STDA, and WD transforms of signatures shows promise in non-invasively GS PCa and reducing underscoring with high spatial resolution. Copyright © 2018 Elsevier Ltd. All rights reserved.

  12. Noninvasive radioisotopic technique for detection of platelet deposition in mitral valve prostheses and quantitation of visceral microembolism in dogs

    International Nuclear Information System (INIS)

    Dewanjee, M.K.; Fuster, V.; Rao, S.A.; Forshaw, P.L.; Kaye, M.P.

    1983-01-01

    A noninvasive technique has been developed in the dog model for imaging, with a gamma camera, the platelet deposition on Bjoerk-Shiley mitral valve prostheses early postoperatively. At 25 hours after implantation of the prosthesis and 24 hours after intravenous administration of 400 to 500 microCi of platelets labeled with indium-111, the platelet deposition in the sewing ring and perivalvular cardiac tissue can be clearly delineated in a scintiphotograph. An in vitro technique was also developed for quantitation of visceral microemboli in brain, lungs, kidneys, and other tissues. Biodistribution of the labeled platelets was quantitated, and the tissue/blood radioactivity ratio was determined in 22 dogs in four groups: unoperated normal dogs, sham-operated dogs, prosthesis-implanted dogs, and prosthesis-implanted dogs treated with dipyridamole before and aspirin and dipyridamole immediately after operation. Fifteen to 20% of total platelets were consumed as a consequence of the surgical procedure. On quantitation, we found that platelet deposition on the components of the prostheses was significantly reduced in prosthesis-implanted animals treated with dipyridamole and aspirin when compared with prosthesis-implanted, untreated dogs. All prosthesis-implanted animals considered together had a twofold to fourfold increase in tissue/blood radioactivity ratio in comparison with unoperated and sham-operated animals, an indication that the viscera work as filters and trap platelet microemboli that are presumably produced in the region of the mitral valve prostheses. In the dog model, indium-111-labeled platelets thus provide a sensitive marker for noninvasive imaging of platelet deposition on mechanical mitral valve prostheses, in vitro evaluation of platelet microembolism in viscera, in vitro quantitation of surgical consumption of platelets, and evaluation of platelet-inhibitor drugs

  13. Control Prenatal

    Directory of Open Access Journals (Sweden)

    P. Susana Aguilera, DRA.

    2014-11-01

    Full Text Available Los principales objetivos del control prenatal son identificar aquellos pacientes de mayor riesgo, con el fin de realizar intervenciones en forma oportuna que permitan prevenir dichos riesgos y así lograr un buen resultado perinatal. Esto se realiza a través de la historia médica y reproductiva de la mujer, el examen físico, la realización de algunos exámenes de laboratorio y exámenes de ultrasonido. Además es importante promover estilos de vida saludables, la suplementación de ácido fólico, una consejería nutricional y educación al respecto.

  14. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination : An analysis of 709,030 births in 12 European countries

    NARCIS (Netherlands)

    Wiesel, A.; Queisser-Luft, A.; Clementi, M.; Bianca, S.; Stoll, C.; de Walle, H.E.K.

    2005-01-01

    The study was performed to evaluate the prevalence of prenatal ultrasound diagnoses for renal anomalies in 20 registries of 12 European countries, and to compare the different prenatal scanning policies. Standardized data were acquired from 709,030 livebirths, stillbirths, and induced abortions

  15. Non-invasive detection of coronary endothelial response to sequential handgrip exercise in coronary artery disease patients and healthy adults.

    Directory of Open Access Journals (Sweden)

    Allison G Hays

    Full Text Available OBJECTIVES: Our objective is to test the hypothesis that coronary endothelial function (CorEndoFx does not change with repeated isometric handgrip (IHG stress in CAD patients or healthy subjects. BACKGROUND: Coronary responses to endothelial-dependent stressors are important measures of vascular risk that can change in response to environmental stimuli or pharmacologic interventions. The evaluation of the effect of an acute intervention on endothelial response is only valid if the measurement does not change significantly in the short term under normal conditions. Using 3.0 Tesla (T MRI, we non-invasively compared two coronary artery endothelial function measurements separated by a ten minute interval in healthy subjects and patients with coronary artery disease (CAD. METHODS: Twenty healthy adult subjects and 12 CAD patients were studied on a commercial 3.0 T whole-body MR imaging system. Coronary cross-sectional area (CSA, peak diastolic coronary flow velocity (PDFV and blood-flow were quantified before and during continuous IHG stress, an endothelial-dependent stressor. The IHG exercise with imaging was repeated after a 10 minute recovery period. RESULTS: In healthy adults, coronary artery CSA changes and blood-flow increases did not differ between the first and second stresses (mean % change ±SEM, first vs. second stress CSA: 14.8%±3.3% vs. 17.8%±3.6%, p = 0.24; PDFV: 27.5%±4.9% vs. 24.2%±4.5%, p = 0.54; blood-flow: 44.3%±8.3 vs. 44.8%±8.1, p = 0.84. The coronary vasoreactive responses in the CAD patients also did not differ between the first and second stresses (mean % change ±SEM, first stress vs. second stress: CSA: -6.4%±2.0% vs. -5.0%±2.4%, p = 0.22; PDFV: -4.0%±4.6% vs. -4.2%±5.3%, p = 0.83; blood-flow: -9.7%±5.1% vs. -8.7%±6.3%, p = 0.38. CONCLUSION: MRI measures of CorEndoFx are unchanged during repeated isometric handgrip exercise tests in CAD patients and healthy adults. These findings

  16. INVASIVE AND NON-INVASIVE TECHNIQUES FOR DETECTING PORTAL HYPERTENSION AND PREDICTING VARICEAL BLEEDING IN CIRRHOSIS: A REVIEW

    Science.gov (United States)

    Zardi, Enrico Maria; Di Matteo, Francesco Maria; Pacella, Claudio Maurizio; Sanyal, Arun J

    2016-01-01

    Portal hypertension is a severe syndrome that may derive from pre-sinusoidal, sinusoidal and post-sinusoidal causes. As a consequence, several complications (i.e., ascites, oesophageal varices) may develop. In sinusoidal portal hypertension, hepatic venous pressure gradient (HVPG) is a reliable method for defining the grade of portal pressure, establishing the effectiveness of the treatment and predicting the occurrence of complications; however, some questions exist regarding its ability to discriminate bleeding from nonbleeding varices in cirrhotic patients. Other imaging techniques (transient elastography, endoscopy, endosonography and duplex Doppler sonography) for assessing causes and complications of portal hypertensive syndrome are available and may be valuable for the management of these patients. In this review, we evaluate invasive and non-invasive techniques currently employed to obtain a clinical prediction of deadly complications, such as variceal bleeding in patients affected by sinusoidal portal hypertension, in order to create a diagnostic algorithm to manage them. Again, HVPG appears to be the reference standard to evaluate portal hypertension and monitor the response to treatment, but its ability to predict several complications and support management decisions might be further improved through the diagnostic combination with other imaging techniques. PMID:24328372

  17. Burn-injured tissue detection for debridement surgery through the combination of non-invasive optical imaging techniques.

    Science.gov (United States)

    Heredia-Juesas, Juan; Thatcher, Jeffrey E; Lu, Yang; Squiers, John J; King, Darlene; Fan, Wensheng; DiMaio, J Michael; Martinez-Lorenzo, Jose A

    2018-04-01

    The process of burn debridement is a challenging technique requiring significant skills to identify the regions that need excision and their appropriate excision depths. In order to assist surgeons, a machine learning tool is being developed to provide a quantitative assessment of burn-injured tissue. This paper presents three non-invasive optical imaging techniques capable of distinguishing four kinds of tissue-healthy skin, viable wound bed, shallow burn, and deep burn-during serial burn debridement in a porcine model. All combinations of these three techniques have been studied through a k-fold cross-validation method. In terms of global performance, the combination of all three techniques significantly improves the classification accuracy with respect to just one technique, from 0.42 up to more than 0.76. Furthermore, a non-linear spatial filtering based on the mode of a small neighborhood has been applied as a post-processing technique, in order to improve the performance of the classification. Using this technique, the global accuracy reaches a value close to 0.78 and, for some particular tissues and combination of techniques, the accuracy improves by 13%.

  18. Contrast-Enhanced Ultrasound and Near-Infrared Spectroscopy of the Neonatal Bowel: Novel, Bedside, Noninvasive, and Radiation-Free Imaging for Early Detection of Necrotizing Enterocolitis.

    Science.gov (United States)

    Al-Hamad, Suzanne; Hackam, David J; Goldstein, Seth D; Huisman, Thierry A G M; Darge, Kassa; Hwang, Misun

    2018-05-31

    Despite extensive research and improvements in the field of neonatal care, the morbidity and mortality associated with necrotizing enterocolitis (NEC) have remained unchanged over the past three decades. Early detection of ischemia and necrotic bowel is vital in improving morbidity and mortality associated with NEC; however, strategies for predicting and preventing NEC are lacking. Contrast-enhanced ultrasound (CEUS) and near-infrared spectroscopy (NIRS) are novel techniques in pediatrics that have been proven as safe modalities. CEUS has benefits over conventional ultrasound (US) by its improved real-time evaluation of the micro- and macrovascularities of normally and abnormally perfused tissue. US has been implemented as a useful adjunct to X-ray for earlier evaluation of NEC. NIRS is another noninvasive technique that has shown promise in improving early detection of NEC. The purpose of this article is to review the current understanding of changes in bowel perfusion in NEC, discuss the accuracy of abdominal US in detecting NEC, and explain how the use of CEUS and NIRS will enhance the precise and early detection of altered/pathological bowel wall perfusion in the initial development and course of NEC. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  19. Noninvasive detection of coronary vasospastic angina using a double-acquisition coronary CT angiography protocol in the presence and absence of an intravenous nitrate: a pilot study

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Eun-Ju; Kim, Dong Won; Yoon, Seong Kuk; Lee, Ki-Nam [Dong-A University, Department of Radiology, College of Medicine, Busan (Korea, Republic of); Kim, Moo Hyun; Jin, Cai De [Dong-A University, Department of Cardiology, College of Medicine, Busan (Korea, Republic of); Dong-A University Hospital, Global Clinical Trial Center, Busan (Korea, Republic of); Seo, Jeongmin; Park, Tae-Ho [Dong-A University, Department of Cardiology, College of Medicine, Busan (Korea, Republic of); Choi, Sang Il [Seoul National University Bundang Hospital, Department of Radiology, Seongnam-si (Korea, Republic of); Yoon, Yeonyee Elizabeth [Seoul National University Bundang Hospital, Department of Cardiology, Seongnam-si (Korea, Republic of)

    2017-03-15

    To evaluate the feasibility of a double-acquisition coronary CT angiography (CCTA) protocol in the presence and absence of an intravenous (IV) vasodilator infusion for detecting vasospastic angina. Twenty patients with a high clinical probability of vasospastic angina were enrolled. All subjects underwent baseline CCTA without a vasodilator in the early morning followed by a catheterized coronary angiography with ergonovine provocation test. Within 3 days, all subjects underwent repeat CCTA during a continuous IV infusion of nitrate. Vasospastic angina as detected by CCTA was defined as significant stenosis (≥50 %) with negative remodelling without definite plaques or diffuse small diameter (<2 mm) of a major coronary artery with a beaded appearance on baseline CT that completely dilated on IV nitrate CT. The CCTA results were compared to the catheterized ergonovine provocation test as the reference standard. Among 20 patients, the catheterized ergonovine provocation test detected vasospasm in 15 patients. The sensitivity, specificity, positive predictive value and negative predictive value of CCTA in a per-patient-based analysis were 73, 100, 100 and 56 %, respectively. Double-acquisition CCTA in the presence and absence of IV infusion of nitrate allows noninvasive detection of vasospastic angina with moderate sensitivity and high specificity. (orig.)

  20. Noninvasive detection of cardiac repair after acute myocardial infarction in rats by 111In fab fragment of monoclonal antibody specific for tenascin-C

    International Nuclear Information System (INIS)

    Okada, Kenichi; Uehara, Tomoya; Arano, Yasushi

    2008-01-01

    Left ventricular (LV) remodeling after acute myocardial infarction (MI) causes heart failure, and thus it is important to evaluate cardiac repair as the early stage of LV remodeling. Tenascin-C (TNC), an extracellular matrix glycoprotein, is transiently and abundantly expressed in the heart during the early stage of tissue remodeling after MI. However, it is not expressed in healthy adult heart. This study was undertaken to develop a new noninvasive diagnostic technique to detect cardiac repair after acute MI using 111 In Fab fragment of a monoclonal antibody specific for TNC. 111 In-anti-TNC-Fab was injected intravenously in 13 rats at 1 (D1, n=3), 3 (D3, n=5), and 5 (D5, n=5) days after producing MI and in 5 sham-operated rats (S). We performed autoradiography and dual-isotope single-photon emission computed tomography imaging (SPECT) of 111 In-anti-TNC-Fab and 99m Tc methoxyisobutyl isonitrile (MIBI). The radioactivity in the heart was significantly higher in D (D1, 0.45±0.06% injected-dose/g; D3, 0.64±0.12; D5, 0.38±0.07) than S (0.27±0.06, P 111 In-anti-TNC-Fab, which was complementary to the perfusion image. The results of the present study indicated that we can localize the infarcted region in the heart by ex vivo and in vivo imaging methods using 111 In-anti-TNC-Fab, and suggested the potential usefulness of noninvasive detection of cardiac repair. (author)

  1. Noninvasive radioisotopic technique for detection of platelet deposition in mitral valve prosthesis and renal microembolism in dogs

    International Nuclear Information System (INIS)

    Dewanjee, M.K.; Kaye, M.P.; Fuster, V.; Rao, S.A.

    1980-01-01

    At 24 hrs after implantation of Bjoerk-Shiley mitral prosthesis in 5 dogs, in vivo images were obtained with a gamma camera after intravenous administration (0.5-0.6 mCi) one hour postoperatively of autologous Indium-111-labeled platelets. The site of platelet deposition in the teflon ring and perivascular damaged cardiac tissue is clearly delineated in the scintiphoto. In vitro biodistribution (mean % +/- SD of injected dose) at 24 hrs after injection of the 5 implanted and 7 normal dogs performed with a gamma counter demonstrated that (45.1 +/- 10.6)% and (0.7 +/- 0.4)% were in blood and kidneys in normal dogs and (28.5 +/- 6.8)%, (1.6 +/- 0.6)%, (0.3 +/- 0.1)%, and (0.2 +/- 0.1)% were in blood, kidneys, teflon rings, and perivascular damaged cardiac tissue, respectively. The strut and pyrolytic carbon-coated disc retained only (0.0033 +/- 0.0004)% and (0.0031 +/- 0.0003)%, respectively. There was a 2.3-fold increase of labeled platelets in kidneys of implanted dogs due to renal trapping of microembolism. Also, three- to fivefold increase in ratios of lung, brain, cardiac, and skeletal muscle to blood indicates that internal organs and whole body work as filter for microembolism generated by cardiovascular surgery and mitral prosthesis. Twenty percent of the administered platelets are consumed in surgical repair of damaged tissue. Indium-111-labeled platelets thus provide a sensitive marker for noninvasive imaging of Bjoerk-Shiley mitral prosthesis, thromboembolism after implantation of prosthetic device, and in vitro quantitation of surgical consumption

  2. Prenatal Care Checkup

    Science.gov (United States)

    ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Report Cards Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  3. 1-Butyl-3-Methylimidazolium Tetrafluoroborate Film as a Highly Selective Sensing Material for Non-Invasive Detection of Acetone Using a Quartz Crystal Microbalance

    Directory of Open Access Journals (Sweden)

    Wenyan Tao

    2017-01-01

    Full Text Available Breath acetone serves as a biomarker for diabetes. This article reports 1-butyl-3-methylimidazolium tetrafluoroborate ([bmim][BF4], a type of room temperature ionic liquid (RTIL, as a selective sensing material for acetone. The RTIL sensing layer was coated on a quartz crystal microbalance (QCM for detection. The sensing mechanism is based on a decrease in viscosity and density of the [bmim][BF4] film due to the solubilization of acetone leading to a positive frequency shift in the QCM. Acetone was detected with a linear range from 7.05 to 750 ppmv. Sensitivity and limit of detection were found to be 3.49 Hz/ppmv and 5.0 ppmv, respectively. The [bmim][BF4]-modified QCM sensor demonstrated anti-interference ability to commonly found volatile organic compounds in breath, e.g., isoprene, 1,2-pentadiene, d-limonene, and dl-limonene. This technology is useful for applications in non-invasive early diabetic diagnosis.

  4. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

    Science.gov (United States)

    Gigante, Laura; Paganini, Irene; Frontali, Marina; Ciabattoni, Serena; Sangiuolo, Federica Carla; Papi, Laura

    2016-01-01

    Rhabdoid tumors are aggressive malignancies that show loss-of-function mutations of SMARCB1 gene, a member of the SWI/SNF chromatin-remodeling complex controlling gene transcription. One-third of patients affected by rhabdoid tumor harbor a germ-line mutation of SMARCB1 defining a rhabdoid tumor predisposition syndrome. The occurrence of a second somatic mutation determines the development of neoplasia in a two-hit model. Most germ-line mutations occur de novo, and few cases of recurrence in a sibship have been described. Here we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism. The deletion was identified in the 9-month-old proband with malignant rhabdoid tumor of the right kidney and disseminated metastases. Testing of both parents confirmed the de novo origin of the mutation, but recurrence was then detected prenatally in a new pregnancy. This is the sixth family with malignant rhabdoid tumor predisposition syndrome with the recurrence of the same germ-line SMARCB1 mutation in the sibship but not in healthy parents, suggesting that gonadal mosaicism is a less rare event than supposed. The clinical outcome in our patient confirms previous data of poorer outcome in patients with rhabdoid tumor predisposition syndrome.

  5. Non-invasive detection of the freezing of gait in Parkinson's disease using spectral and wavelet features.

    Science.gov (United States)

    Nazarzadeh, Kimia; Arjunan, Sridhar P; Kumar, Dinesh K; Das, Debi Prasad

    2016-08-01

    In this study, we have analyzed the accelerometer data recorded during gait analysis of Parkinson disease patients for detecting freezing of gait (FOG) episodes. The proposed method filters the recordings for noise reduction of the leg movement changes and computes the wavelet coefficients to detect FOG events. Publicly available FOG database was used and the technique was evaluated using receiver operating characteristic (ROC) analysis. Results show a higher performance of the wavelet feature in discrimination of the FOG events from the background activity when compared with the existing technique.

  6. Individualized choice in prenatal diagnosis : the impact of karyotyping and standalone rapid aneuploidy detection on quality of life

    NARCIS (Netherlands)

    Boormans, E. M. A.; Birnie, E.; Oepkes, D.; Boekkooi, P. F.; Bonsel, G. J.; van Lith, J. M. M.

    2010-01-01

    Objective To assess the reasons and perceptions of women who are offered a choice between karyotyping and standalone rapid aneuploidy detection (RAD) and to compare the impact of both tests on anxiety and health-related quality of life Methods In this prospective comparative study, women undergoing

  7. Ultrasonography as a non-invasive tool for detection of nonalcoholic fatty liver disease in overweight/obese Egyptian children

    International Nuclear Information System (INIS)

    El-Koofy, Nehal; El-Karaksy, Hanaa; El-Akel, Wafaa; Helmy, Heba; Anwar, Ghada; El-Sayed, Rokaya; El-Hennawy, Ahmad

    2012-01-01

    Introduction: Liver biopsy, although a gold standard in diagnosis of nonalcoholic fatty liver disease (NAFLD), is an invasive and expensive tool. Aim: To assess the diagnostic accuracy of abdominal ultrasound in detecting NAFLD among a group of overweight/obese children having one or more liver abnormality (clinical hepatomegaly, raised ALT or echogenic liver parenchyma by ultrasound). Methods: Seventy-eight overweight/obese children were referred to the Pediatric Hepatology Unit, Cairo University Pediatric Hospital, Egypt, for assessment for hepatic abnormalities. Out of the 78 children, 34 had one or more abnormality in the form of clinical hepatomegaly, raised alanine aminotransferase (ALT) and/or echogenic liver parenchyma by ultrasound. All 34 cases underwent liver biopsy for evaluation for NAFLD. Results: Histological NAFLD was detected in 15 cases; 8 simple steatosis and 7 nonalcoholic steatohepatitis (NASH). Sonographic evaluation of hepatic parenchymal echogenicity revealed: 11 with grade 1 echogenicity, 12 with grade 2 and 9 with grade 3 while only 2 had normal liver echopattern. Ultrasonography was 100% sensitive and 100% specific in detecting histological NAFLD, while the positive predictive value (PPV) was 47% and negative predictive value (NPV) was 11%. After consolidating the included children into 2 groups: the first including normal and grade 1 echogenicity and the second including grades 2 and 3, the sensitivity of ultrasonography in detecting histological NAFLD was still 100%, while negative predictive value increased to 100% with an accuracy of 82%. Conclusion: We conclude that ultrasonography is an important non invasive tool in assessment for NAFLD. Normal or grade 1 hepatic echogenicity can soundly exclude histological NAFLD and obviates the need for liver biopsy.

  8. Non-Invasive Detection of Adulterated Olive Oil in Full Bottles Using Time-Domain NMR Relaxometry

    OpenAIRE

    Santos, Poliana M.; Kock, Flávio Vinicius C.; Santos, Maiara S.; Lobo, Carlos Manuel S.; Carvalho, André S.; Colnago, Luiz Alberto

    2017-01-01

    A fast procedure using time-domain nuclear magnetic resonance (TD-NMR) to detect olive oil adulteration with polyunsaturated vegetable oils in filled bottles is proposed. The 1H transverse relaxation times (T2) of 37 commercial samples were measured using low-field nuclear magnetic resonance (LF-NMR) spectrometer and a unilateral nuclear magnetic resonance (UNMR) sensor. Results obtained with LF-NMR revealed better feasibility when compared with the UNMR sensor, with higher signal-to-noise (S...

  9. Ultrasonography as a non-invasive tool for detection of nonalcoholic fatty liver disease in overweight/obese Egyptian children

    Energy Technology Data Exchange (ETDEWEB)

    El-Koofy, Nehal [Department of Pediatrics, Cairo University (Egypt); El-Karaksy, Hanaa, E-mail: hanaakaraksy@yahoo.com [Department of Pediatrics, Cairo University (Egypt); El-Akel, Wafaa [Tropical Medicine, Cairo University (Egypt); Helmy, Heba; Anwar, Ghada; El-Sayed, Rokaya [Department of Pediatrics, Cairo University (Egypt); El-Hennawy, Ahmad [Pathology, Faculty of Medicine, Cairo University (Egypt)

    2012-11-15

    Introduction: Liver biopsy, although a gold standard in diagnosis of nonalcoholic fatty liver disease (NAFLD), is an invasive and expensive tool. Aim: To assess the diagnostic accuracy of abdominal ultrasound in detecting NAFLD among a group of overweight/obese children having one or more liver abnormality (clinical hepatomegaly, raised ALT or echogenic liver parenchyma by ultrasound). Methods: Seventy-eight overweight/obese children were referred to the Pediatric Hepatology Unit, Cairo University Pediatric Hospital, Egypt, for assessment for hepatic abnormalities. Out of the 78 children, 34 had one or more abnormality in the form of clinical hepatomegaly, raised alanine aminotransferase (ALT) and/or echogenic liver parenchyma by ultrasound. All 34 cases underwent liver biopsy for evaluation for NAFLD. Results: Histological NAFLD was detected in 15 cases; 8 simple steatosis and 7 nonalcoholic steatohepatitis (NASH). Sonographic evaluation of hepatic parenchymal echogenicity revealed: 11 with grade 1 echogenicity, 12 with grade 2 and 9 with grade 3 while only 2 had normal liver echopattern. Ultrasonography was 100% sensitive and 100% specific in detecting histological NAFLD, while the positive predictive value (PPV) was 47% and negative predictive value (NPV) was 11%. After consolidating the included children into 2 groups: the first including normal and grade 1 echogenicity and the second including grades 2 and 3, the sensitivity of ultrasonography in detecting histological NAFLD was still 100%, while negative predictive value increased to 100% with an accuracy of 82%. Conclusion: We conclude that ultrasonography is an important non invasive tool in assessment for NAFLD. Normal or grade 1 hepatic echogenicity can soundly exclude histological NAFLD and obviates the need for liver biopsy.

  10. Non-invasive detection of the early phase of kidney injury by photoacoustic/computed tomography imaging

    Science.gov (United States)

    Pan, Wanma; Peng, Wen; Ning, Fengling; Zhang, Yu; Zhang, Yunfei; Wang, Yinhang; Xie, Weiyi; Zhang, Jing; Xin, Hong; Li, Cong; Zhang, Xuemei

    2018-06-01

    The early diagnosis of kidney diseases, which can remarkably impair the quality of life and are costly, has encountered great difficulties. Therefore, the development of methods for early diagnosis has great clinical significance. In this study, we used an emerging technique of photoacoustic (PA) imaging, which has relatively high spatial resolution and good imaging depth. Two kinds of PA gold nanoparticle (GNP)-based bioprobes were developed based on their superior photo detectability, size controllability and biocompatibility. The kidney injury mouse model was developed by unilateral ureteral obstruction for 96 h and the release of obstruction model). Giving 3.5 and 5.5 nm bioprobes by tail vein injection, we found that the 5.5 nm probe could be detected in the bladder in the model group, but not in the control group. These results were confirmed by computed tomography imaging. Furthermore, the model group did not show changes in the blood biochemical indices (BUN and Scr) and histologic examination. The 5.5 nm GNPs were found to be the critical point for early diagnosis of kidney injury. This new method was faster and more sensitive and accurate for the detection of renal injury, compared with conventional methods, and can be used for the development of a PA GNP-based bioprobe for diagnosing renal injury.

  11. Tunable diode laser absorption spectroscopy as method of choice for non-invasive and automated detection of microbial growth in media fills.

    Science.gov (United States)

    Brueckner, David; Roesti, David; Zuber, Ulrich; Sacher, Meik; Duncan, Derek; Krähenbühl, Stephan; Braissant, Olivier

    2017-05-15

    Tunable diode laser absorption spectroscopy (TDLAS) was evaluated on its potential to detect bacterial growth of contaminated media fill vials. The target was a replacement/ automation of the traditional visual media fill inspection. TDLAS was used to determine non-invasively O 2 and/or CO 2 changes in headspaces of such vials being induced by metabolically active microorganisms. Four different vial formats, 34 microorganisms (inoculation volume<10 cells) and two different media (TSB/FTM) were tested. Applying parallel CO 2 and O 2 headspace measurements all format-organism combinations were detected within <11 days reliably with reproducible results. False negatives were exclusively observed for samples that were intentionally breached with syringes of 0.3mm in diameter. Overall it was shown that TDLAS functionality for a replacement of the visual media fill inspection is given and that investing in further validation and implementation studies is valuable. Nevertheless, some small but vincible challenges remain to have this technology in practical use. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. The Application of Non-Invasive Apoptosis Detection Sensor (NIADS on Histone Deacetylation Inhibitor (HDACi-Induced Breast Cancer Cell Death

    Directory of Open Access Journals (Sweden)

    Kai-Wen Hsu

    2018-02-01

    Full Text Available Breast cancer is the most common malignancy in women and the second leading cause of cancer death in women. Triple negative breast cancer (TNBC subtype is a breast cancer subset without ER (estrogen receptor, PR (progesterone receptor and HER2 (human epidermal growth factor receptor 2 expression, limiting treatment options and presenting a poorer survival rate. Thus, we investigated whether histone deacetylation inhibitor (HDACi could be used as potential anti-cancer therapy on breast cancer cells. In this study, we found TNBC and HER2-enriched breast cancers are extremely sensitive to Panobinostat, Belinostat of HDACi via experiments of cell viability assay, apoptotic marker identification and flow cytometry measurement. On the other hand, we developed a bioluminescence-based live cell non-invasive apoptosis detection sensor (NIADS detection system to evaluate the quantitative and kinetic analyses of apoptotic cell death by HDAC treatment on breast cancer cells. In addition, the use of HDACi may also contribute a synergic anti-cancer effect with co-treatment of chemotherapeutic agent such as doxorubicin on TNBC cells (MDA-MB-231, but not in breast normal epithelia cells (MCF-10A, providing therapeutic benefits against breast tumor in the clinic.

  13. Noninvasive detection of regional myocardial ischemia using rubidium-81 and scintillation camera. Comparison with stress electrocardiography in patients with arteriographically documented coronary stenosis

    International Nuclear Information System (INIS)

    Berman, D.S.; Salel, A.F.; DeNardo, G.L.; Mason, D.T.

    1975-01-01

    The sensitivity of rest and stress myocardial perfusion studies using scintillation camera imaging of intravenously administered rubidium-81 ( 81 Rb) in the detection of myocardial ischemia was compared to that of stress electrocardiography by relating results in 40 patients to the degree of stenosis delineated by coronary arteriography. Of 33 patients with greater than 75 percent stenosis of at least one of the three major coronary vessels (significant stenosis), rest and stress 81 Rb imaging detected ventricular ischemia in 29 (88 percent), whereas simultaneous stress electrocardiography was positive (1 mm or greater horizontal ST-segment depression) in only 19 (58 percent) of the same patients. Five of the 29 patients who developed stress-induced scintigraphic evidence of ischemia did not develop angina or a positive electrocardiogram with stress. In 31 of the 33 patients with significant coronary stenosis, either the stress scintigram or the stress electrocardiogram was positive. In seven patients with less than 50 percent narrowing of a major coronary vessel on coronary arteriography, the stress scintigrams were negative, whereas the stress electrocardiograms were positive in the two of these patients with the syndrome of angina with normal coronary arteriograms. It is concluded that high resolution images of the myocardium can be obtained with 81 Rb using the scintillation camera with special shielding, and that rest and stress 81 Rb scintigraphy appears to provide greater sensitivity and specificity when compared to stress electrocardiography in the noninvasive identification of significant coronary stenosis

  14. Outcomes of non-invasive diagnostic modalities for the detection of coronary artery disease: network meta-analysis of diagnostic randomised controlled trials.

    Science.gov (United States)

    Siontis, George Cm; Mavridis, Dimitris; Greenwood, John P; Coles, Bernadette; Nikolakopoulou, Adriani; Jüni, Peter; Salanti, Georgia; Windecker, Stephan

    2018-02-21

    To evaluate differences in downstream testing, coronary revascularisation, and clinical outcomes following non-invasive diagnostic modalities used to detect coronary artery disease. Systematic review and network meta-analysis. Medline, Medline in process, Embase, Cochrane Library for clinical trials, PubMed, Web of Science, SCOPUS, WHO International Clinical Trials Registry Platform, and Clinicaltrials.gov. Diagnostic randomised controlled trials comparing non-invasive diagnostic modalities in patients presenting with symptoms suggestive of low risk acute coronary syndrome or stable coronary artery disease. A random effects network meta-analysis synthesised available evidence from trials evaluating the effect of non-invasive diagnostic modalities on downstream testing and patient oriented outcomes in patients with suspected coronary artery disease. Modalities included exercise electrocardiograms, stress echocardiography, single photon emission computed tomography-myocardial perfusion imaging, real time myocardial contrast echocardiography, coronary computed tomographic angiography, and cardiovascular magnetic resonance. Unpublished outcome data were obtained from 11 trials. 18 trials of patients with low risk acute coronary syndrome (n=11 329) and 12 trials of those with suspected stable coronary artery disease (n=22 062) were included. Among patients with low risk acute coronary syndrome, stress echocardiography, cardiovascular magnetic resonance, and exercise electrocardiograms resulted in fewer invasive referrals for coronary angiography than coronary computed tomographic angiography (odds ratio 0.28 (95% confidence interval 0.14 to 0.57), 0.32 (0.15 to 0.71), and 0.53 (0.28 to 1.00), respectively). There was no effect on the subsequent risk of myocardial infarction, but estimates were imprecise. Heterogeneity and inconsistency were low. In patients with suspected stable coronary artery disease, an initial diagnostic strategy of stress echocardiography or

  15. Outcomes of non-invasive diagnostic modalities for the detection of coronary artery disease: network meta-analysis of diagnostic randomised controlled trials

    Science.gov (United States)

    Siontis, George CM; Mavridis, Dimitris; Greenwood, John P; Coles, Bernadette; Nikolakopoulou, Adriani; Jüni, Peter; Salanti, Georgia

    2018-01-01

    Abstract Objective To evaluate differences in downstream testing, coronary revascularisation, and clinical outcomes following non-invasive diagnostic modalities used to detect coronary artery disease. Design Systematic review and network meta-analysis. Data sources Medline, Medline in process, Embase, Cochrane Library for clinical trials, PubMed, Web of Science, SCOPUS, WHO International Clinical Trials Registry Platform, and Clinicaltrials.gov. Eligibility criteria for selecting studies Diagnostic randomised controlled trials comparing non-invasive diagnostic modalities in patients presenting with symptoms suggestive of low risk acute coronary syndrome or stable coronary artery disease. Data synthesis A random effects network meta-analysis synthesised available evidence from trials evaluating the effect of non-invasive diagnostic modalities on downstream testing and patient oriented outcomes in patients with suspected coronary artery disease. Modalities included exercise electrocardiograms, stress echocardiography, single photon emission computed tomography-myocardial perfusion imaging, real time myocardial contrast echocardiography, coronary computed tomographic angiography, and cardiovascular magnetic resonance. Unpublished outcome data were obtained from 11 trials. Results 18 trials of patients with low risk acute coronary syndrome (n=11 329) and 12 trials of those with suspected stable coronary artery disease (n=22 062) were included. Among patients with low risk acute coronary syndrome, stress echocardiography, cardiovascular magnetic resonance, and exercise electrocardiograms resulted in fewer invasive referrals for coronary angiography than coronary computed tomographic angiography (odds ratio 0.28 (95% confidence interval 0.14 to 0.57), 0.32 (0.15 to 0.71), and 0.53 (0.28 to 1.00), respectively). There was no effect on the subsequent risk of myocardial infarction, but estimates were imprecise. Heterogeneity and inconsistency were low. In patients with

  16. Prenatal diagnosis of Down syndrome: A 13-year retrospective study

    Directory of Open Access Journals (Sweden)

    Ana Vičić

    2017-12-01

    Conclusion: In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling.

  17. Utility of the microculture method for Leishmania detection in non-invasive samples obtained from a blood bank.

    Science.gov (United States)

    Ates, Sezen Canim; Bagirova, Malahat; Allahverdiyev, Adil M; Kocazeybek, Bekir; Kosan, Erdogan

    2013-10-01

    In recent years, the role of donor blood has taken an important place in epidemiology of Leishmaniasis. According to the WHO, the numbers of patients considered as symptomatic are only 5-20% of individuals with asymptomatic leishmaniasis. In this study for detection of Leishmania infection in donor blood samples, 343 samples from the Capa Red Crescent Blood Center were obtained and primarily analyzed by microscopic and serological methods. Subsequently, the traditional culture (NNN), Immuno-chromatographic test (ICT) and Polymerase Chain Reaction (PCR) methods were applied to 21 samples which of them were found positive with at least one method. Buffy coat (BC) samples from 343 blood donors were analyzed: 15 (4.3%) were positive by a microculture method (MCM); and 4 (1.1%) by smear. The sera of these 343 samples included 9 (2.6%) determined positive by ELISA and 7 (2%) positive by IFAT. Thus, 21 of (6.1%) the 343 subjects studied by smear, MCM, IFAT and ELISA techniques were identified as positive for leishmaniasis at least one of the techniques and the sensitivity assessed. According to our data, the sensitivity of the methods are identified as MCM (71%), smear (19%), IFAT (33%), ELISA (42%), NNN (4%), PCR (14%) and ICT (4%). Thus, with this study for the first time, the sensitivity of a MCM was examined in blood donors by comparing MCM with the methods used in the diagnosis of leishmaniasis. As a result, MCM was found the most sensitive method for detection of Leishmania parasites in samples obtained from a blood bank. In addition, the presence of Leishmania parasites was detected in donor bloods in Istanbul, a non-endemic region of Turkey, and these results is a vital importance for the health of blood recipients. Copyright © 2013 Elsevier B.V. All rights reserved.

  18. A noninvasive technique for real-time detection of bruises in apple surface based on machine vision

    Science.gov (United States)

    Zhao, Juan; Peng, Yankun; Dhakal, Sagar; Zhang, Leilei; Sasao, Akira

    2013-05-01

    Apple is one of the highly consumed fruit item in daily life. However, due to its high damage potential and massive influence on taste and export, the quality of apple has to be detected before it reaches the consumer's hand. This study was aimed to develop a hardware and software unit for real-time detection of apple bruises based on machine vision technology. The hardware unit consisted of a light shield installed two monochrome cameras at different angles, LED light source to illuminate the sample, and sensors at the entrance of box to signal the positioning of sample. Graphical Users Interface (GUI) was developed in VS2010 platform to control the overall hardware and display the image processing result. The hardware-software system was developed to acquire the images of 3 samples from each camera and display the image processing result in real time basis. An image processing algorithm was developed in Opencv and C++ platform. The software is able to control the hardware system to classify the apple into two grades based on presence/absence of surface bruises with the size of 5mm. The experimental result is promising and the system with further modification can be applicable for industrial production in near future.

  19. Two-layer optical model of skin for early, non-invasive detection of wound development on the diabetic foot

    Science.gov (United States)

    Yudovsky, Dmitry; Nouvong, Aksone; Schomacker, Kevin; Pilon, Laurent

    2010-02-01

    Foot ulceration is a debilitating comorbidity of diabetes that may result in loss of mobility and amputation. Optical detection of cutaneous tissue changes due to inflammation and necrosis at the preulcer site could constitute a preventative strategy. A commercial hyperspectral oximetry system was used to measure tissue oxygenation on the feet of diabetic patients. A previously developed predictive index was used to differentiate preulcer tissue from surrounding healthy tissue with a sensitivity of 92% and specificity of 80%. To improve prediction accuracy, an optical skin model was developed treating skin as a two-layer medium and explicitly accounting for (i) melanin content and thickness of the epidermis, (ii) blood content and hemoglobin saturation of the dermis, and (iii) tissue scattering in both layers. Using this forward model, an iterative inverse method was used to determine the skin properties from hyperspectral images of preulcerative areas. The use of this information in lowering the false positive rate was discussed.

  20. Design and Experimental Evaluation of a Non-Invasive Microwave Head Imaging System for Intracranial Haemorrhage Detection.

    Directory of Open Access Journals (Sweden)

    A T Mobashsher

    Full Text Available An intracranial haemorrhage is a life threatening medical emergency, yet only a fraction of the patients receive treatment in time, primarily due to the transport delay in accessing diagnostic equipment in hospitals such as Magnetic Resonance Imaging or Computed Tomography. A mono-static microwave head imaging system that can be carried in an ambulance for the detection and localization of intracranial haemorrhage is presented. The system employs a single ultra-wideband antenna as sensing element to transmit signals in low microwave frequencies towards the head and capture backscattered signals. The compact and low-profile antenna provides stable directional radiation patterns over the operating bandwidth in both near and far-fields. Numerical analysis of the head imaging system with a realistic head model in various situations is performed to realize the scattering mechanism of haemorrhage. A modified delay-and-summation back-projection algorithm, which includes effects of surface waves and a distance-dependent effective permittivity model, is proposed for signal and image post-processing. The efficacy of the automated head imaging system is evaluated using a 3D-printed human head phantom with frequency dispersive dielectric properties including emulated haemorrhages with different sizes located at different depths. Scattered signals are acquired with a compact transceiver in a mono-static circular scanning profile. The reconstructed images demonstrate that the system is capable of detecting haemorrhages as small as 1 cm3. While quantitative analyses reveal that the quality of images gradually degrades with the increase of the haemorrhage's depth due to the reduction of signal penetration inside the head; rigorous statistical analysis suggests that substantial improvement in image quality can be obtained by increasing the data samples collected around the head. The proposed head imaging prototype along with the processing algorithm demonstrates

  1. Prenatal diagnosis of boomerang dysplasia.

    Science.gov (United States)

    Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

    2003-10-01

    Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.

  2. Laser Raman detection of platelet as a non-invasive approach for early and differential diagnosis of Alzheimer's disease

    International Nuclear Information System (INIS)

    Chen, P; Wang, X H; Cheng, Y; Peng, J; Shen, A G; Hu, J M; Tian, Q; Shang, X L; Liu, Z C; Yao, X Q; Wang, J Z; Baek, S J; Park, A

    2011-01-01

    Early and differential diagnosis of Alzheimer's disease (AD) is a problem that puzzled many doctors. Reliable markers in easy-assembling samples are of considerable clinical diagnostic value. In this work, laser Raman spectroscopy (LRS) was developed a new method that potentially allows early and differential diagnosis of AD from the platelet sample. Raman spectra of platelets isolated from different ages of AD transgenic mice and non-transgenic controls were collected and analyzed. Multilayer perceptron networks (MLP) classification method was used to classify spectra and establish the diagnostic models. For differential diagnosis, spectra of platelets isolated from AD, Parkinson's disease (PD) and vascular dementia (VD) mice were also discriminated. Two notable spectral differences at 740 and 1654 cm -1 were revealed in the mean spectrum of platelets isolated from AD transgenic mice and the controls. MLP displayed a powerful ability in the classifying of early, advanced AD and the control group, and in differential diagnosis of PD and advanced AD, as well as VD and advanced AD. The results suggest that platelet detecting by LRS coupled with MLP analysis appears to be an easy and accurate method for early and differential diagnosis of AD. This technique could be rapidly promoted from laboratory to the hospital

  3. Specific absorption spectra of hemoglobin at different PO2 levels: potential noninvasive method to detect PO2 in tissues.

    Science.gov (United States)

    Liu, Peipei; Zhu, Zhirong; Zeng, Changchun; Nie, Guang

    2012-12-01

    Hemoglobin (Hb), as one of main components of blood, has a unique quaternary structure. Its release of oxygen is controlled by oxygen partial pressure (PO2). We investigate the specific spectroscopic changes in Hb under different PO2 levels to optimize clinical methods of measuring tissue PO2. The transmissivity of Hb under different PO2 levels is measured with a UV/Vis fiber optic spectrometer. Its plotted absorption spectral curve shows two high absorption peaks at 540 and 576 nm and an absorption valley at 560 nm when PO2 is higher than 100 mm Hg. The two high absorption peaks decrease gradually with a decrease in PO2, whereas the absorption valley at 560 nm increases. When PO2 decreases to approximately 0 mm Hg, the two high absorption peaks disappear completely, while the absorption valley has a hypochromic shift (8 to 10 nm) and forms a specific high absorption peak at approximately 550 nm. The same phenomena can be observed in visible reflectance spectra of finger-tip microcirculation. Specific changes in extinction coefficient and absorption spectra of Hb occur along with variations in PO2, which could be used to explain pathological changes caused by tissue hypoxia and for early detection of oxygen deficiency diseases in clinical monitoring.

  4. Accuracy of non-invasive 13C-urea breath test compared to invasive tests for helicobacter pylori detection

    International Nuclear Information System (INIS)

    Bilal, R.; Khaar, B.; Omar, M.; Qureshi, T.Z.; Ahmed, T.; Latif, Z.; Jaffery, I.; Omar, M.

    2007-01-01

    To compare the sensitivity, specificity and Positive Predictive Value (PPV) of histology, Campylobacter-Like Organism (CLO) test, culture and 13C-Urea Breath Test (UBT) for the diagnosis of Helicobacter pylori infection. District Headquarter Hospital, Rawalpindi, Military Hospital, Rawalpindi and Pakistan Institute of Science and Technology (PINSTECH), Nilore, Islamabad from June 2002 to 2003. Three mucosal biopsy specimens were obtained during endoscopy of 90 symptomatic patients. Histology, CLO test and culture were performed on these specimens. Breath samples for 13C-UBT were collected and sent to RIAD, PINSTECH on the same day for isotope ratio mass spectrometry. For analysis purpose, each of the tests was fixed as the gold standard in turn and the others were then compared against it. In addition, any two as well as any three positive tests were then set as the gold standard and the other tests compared against them to calculate the sensitivity, specificity, accuracy and PPV of other tests. Urea breath test had the highest sensitivity, ranging from 95 to 100%, against all the gold standards with specificity ranging from 55 to 100%, whereas the sensitivity of histological examination was around 98% but it had comparatively lower specificity (49-89%). The CLO test had a sensitivity range of 86-100% and specificity of 67-100%. Culture had the minimum sensitivity (59-70%) but had highest specificity (96-100%) against all the gold standards. Age and gender had no effect on p-value of each test or in combination. The urea breath test has shown the highest ability to detect the organism with 95-100% sensitivity in symptomatic individuals and specificity, which is comparable to other tests. (author)

  5. Prenatal education for congenital toxoplasmosis.

    Science.gov (United States)

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2015-10-23

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

  6. Diagnóstico Prenatal

    OpenAIRE

    López, Jaime Octavio; Saldarriaga, Wilmar; Fundación Valle de Lili

    2010-01-01

    Diagnóstico Prenatal/ propósitos del diagnóstico prenatal/ Tamizaje a partir del Control Prenatal/ Pacientes de bajo riesgo/ Tamizaje bioquímico/ Pacientes de alto riesgo/ Pruebas invasivas y no invasivas

  7. Preconception Care and Prenatal Care

    Science.gov (United States)

    ... Twitter Pinterest Email Print About Preconception Care and Prenatal Care What is preconception care? Preconception care is the ... improve the health of your child. What is prenatal care? Prenatal care is the health care a woman ...

  8. Group prenatal care.

    Science.gov (United States)

    Mazzoni, Sara E; Carter, Ebony B

    2017-06-01

    Patients participating in group prenatal care gather together with women of similar gestational ages and 2 providers who cofacilitate an educational session after a brief medical assessment. The model was first described in the 1990s by a midwife for low-risk patients and is now practiced by midwives and physicians for both low-risk patients and some high-risk patients, such as those with diabetes. The majority of literature on group prenatal care uses CenteringPregnancy, the most popular model. The first randomized controlled trial of CenteringPregnancy showed that it reduced the risk of preterm birth in low-risk women. However, recent meta-analyses have shown similar rates of preterm birth, low birthweight, and neonatal intensive care unit admission between women participating in group prenatal care and individual prenatal care. There may be subgroups, such as African Americans, who benefit from this type of prenatal care with significantly lower rates of preterm birth. Group prenatal care seems to result in increased patient satisfaction and knowledge and use of postpartum family planning as well as improved weight gain parameters. The literature is inconclusive regarding breast-feeding, stress, depression, and positive health behaviors, although it is theorized that group prenatal care positively affects these outcomes. It is unclear whether group prenatal care results in cost savings, although it may in large-volume practices if each group consists of approximately 8-10 women. Group prenatal care requires a significant paradigm shift. It can be difficult to implement and sustain. More randomized trials are needed to ascertain the true benefits of the model, best practices for implementation, and subgroups who may benefit most from this innovative way to provide prenatal care. In short, group prenatal care is an innovative and promising model with comparable pregnancy outcomes to individual prenatal care in the general population and improved outcomes in some

  9. Promises, pitfalls and practicalities of prenatal whole exome sequencing.

    Science.gov (United States)

    Best, Sunayna; Wou, Karen; Vora, Neeta; Van der Veyver, Ignatia B; Wapner, Ronald; Chitty, Lyn S

    2018-01-01

    Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Thirty-one studies were identified, with diagnostic rates in series of five or more fetuses varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates. The data suggest that diagnostic yields will be greater in fetuses with multiple anomalies or in cases preselected following genetic review. Beyond its ability to improve diagnostic rates, we explore the potential of WES to improve understanding of prenatal presentations of genetic disorders and lethal fetal syndromes. We discuss prenatal phenotyping limitations, counselling challenges regarding variants of uncertain significance, incidental and secondary findings, and technical problems in WES. We review the practical, ethical, social and economic issues that must be considered before prenatal WES could become part of routine testing. Finally, we reflect upon the potential future of prenatal genetic diagnosis, including a move towards whole genome sequencing and non-invasive whole exome and whole genome testing. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  10. [Recent advances in prenatal diagnostics].

    Science.gov (United States)

    Lapaire, O; Holzgreve, W; Miny, P; Hösli, I; Hahn, S; Tercanli, S

    2006-11-01

    During the last years, technical improvements have increased the possibilities in prenatal ultrasound. During the eighties and nineties, fetal malformations were increasingly detected and specified. Since a few years, the measurement of the fetal nuchal translucency between 11 and 14 weeks of gestation has been implemented to calculate the individual risk, in combination with most recent biochemical markers. Today, the sonographic measurement of the nuchal translucency is regarded as a valuable screening tool for chromosomal anomalies in prenatal medicine. Beside standardized examinations, a profound information and counseling of the pregnant women should be emphasized. With the improvement of the specific maternal risk calculation, using the sonographic measurement of the nuchal translucency, the biochemical markers and the maternal age, unnecessary invasive examinations may be prevented and their overall number can significantly be reduced. The same trend is seen in the whole field of prenatal medicine, illustrated by the detection of the fetal rhesus D status from the maternal blood and the use of Doppler ultrasound in the management of fetal anemia.

  11. Prenatal diagnosis of arachnoid cyst

    Directory of Open Access Journals (Sweden)

    Korkut Daglar

    2016-12-01

    Full Text Available Arachnoid cysts are rare, usually benign, space-occupying central nervous system lesion. They are the results of an accumulation of cerebrospinal-like fluid between the cerebral meninges and diagnosed prenatally as a unilocular, simple, echolucent area within the fetal head. They may be primary (congenital (maldevelopment of the meninges or secondary (acquired (result of infection trauma, or hemorrhage. The primary ones typically dont communicate with the subarachnoid space whereas acquired forms usually communicate. In recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. We report a case of primary arachnoid cyst that were diagnosed prenatally by using ultrasonography and magnetic resonance imaging . [Cukurova Med J 2016; 41(4.000: 792-795

  12. [Evaluation of heart impact in the 100 m extreme intensity sport using near-infrared non-invasive muscle oxygen detecting device and sports heart rate detection technology].

    Science.gov (United States)

    Wang, Pei-Yong; Long, Fei-Xiao; Fu, Lan-Ying; Li, Yue; Ding, Hai-Shu; Qu, An-Lian; Zhou, Xiao-Ping

    2010-02-01

    Using continuous two wavelength near-infrared technology to detect the variation in the consistency of oxygen hemoglobin in the muscle and the sports heart rate wireless real time collection technology, we devised the real time muscle tissue oxygenation and instantaneous heart rate experiment scheme and implemented it for the process of the 100 m run with two parameters given simultaneously. The experiment shows that the concentration of the oxygen hemoglobin in the muscle tissue continues decreasing after the end of the 100 m run, and the time interval between the moment when the concentration of the oxygen hemoglobin attains the minimum value and the moment when the athletes finish the 100 m run is (6.65 +/- 1.10) sec; while the heart rate continues increasing after the end of the 100 m run, and the time interval between the moment when the heart rate attains the maximum value and the moment when the athletes finish the 100 m run is (8.00 +/- 1.57) sec. The results show that the two wavelength near-infrared tissue oxygenation detection technology and the sports heart rate real time collection equipment can accurately measure the sports tissue oxygenation and the heart rate in the extreme intensity sport, and reveal the process of muscle oxygen transportation and consumption and its dynamic character with the heart rate in the extreme intensity sport.

  13. Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee [Dankook University Hospital, Chonan (Korea, Republic of)

    2000-03-15

    The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

  14. Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

    International Nuclear Information System (INIS)

    Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee

    2000-01-01

    The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

  15. Fetal Cell Based Prenatal Diagnosis: Perspectives on the Present and Future

    Directory of Open Access Journals (Sweden)

    Morris Fiddler

    2014-09-01

    Full Text Available The ability to capture and analyze fetal cells from maternal circulation or other sources during pregnancy has been a goal of prenatal diagnostics for over thirty years. The vision of replacing invasive prenatal diagnostic procedures with the prospect of having the entire fetal genome in hand non-invasively for chromosomal and molecular studies for both clinical and research use has brought many investigators and innovations into the effort. While the object of this desire, however, has remained elusive, the aspiration for this approach to non-invasive prenatal diagnosis remains and the inquiry has continued. With the advent of screening by cell-free DNA analysis, the standards for fetal cell based prenatal diagnostics have been sharpened. Relevant aspects of the history and the current status of investigations to meet the goal of having an accessible and reliable strategy for capturing and analyzing fetal cells during pregnancy are reviewed.

  16. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  17. Prenatal diagnosis of amniotic band syndrome

    Directory of Open Access Journals (Sweden)

    Laxmi Devi Padmanabhan

    2016-01-01

    Full Text Available Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period.

  18. Prenatal ultrasound findings of fetal neoplasms

    International Nuclear Information System (INIS)

    Lee, Soo Hyun; Cho, Jeong Yeon; Song, Mi Jin; Min, Jee Yeon; Han, Byoung Hee; Lee, Young Ho; Cho, Byung Jae; Kim, Seung Hyup

    2002-01-01

    A variety of neoplasms can develop in each tetal organ. Most fetal neoplasms can be detected by careful prenatal ultrasonographic examination. Some neoplosms show specific ultrasonographic findings suggesting the differential diagnosis, but others do not. Knowledge of the presence of a neoplasm in the fetus may alter the prenatal management of a pregnancy and the mode of delivery, and facilitates immediate postnatal treatment. During the last five years, we experienced 32 cases of fetal neoplasms in a variety of organs. We describe their typical and ultrasonographic findings with correlating postnatal CT, MRI, and pathologic findings

  19. Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.

    Science.gov (United States)

    Chen, Chih-Ping; Su, Yi-Ning; Lin, Tzu-Hung; Chang, Tung-Yao; Su, Jun-Wei; Wang, Wayseen

    2013-12-01

    We describe a prenatal molecular diagnosis of hypochondroplasia (HCH) in a pregnancy not at risk of HCH and review the literature on prenatal diagnosis of HCH. A 28-year-old primigravid woman was referred for genetic counseling at 30 weeks of gestation because of short-limbed dwarfism in the fetus. The woman had a body height of 152 cm. Her husband had a body height of 180 cm. Level II ultrasound showed a normal amount of amniotic fluid and a singleton fetus with fetal biometry equivalent to 30 weeks except for short limbs. Fetal biometry measurements were as follows: biparietal diameter = 7.38 cm (30 weeks); head circumference = 28.14 cm (30 weeks); abdominal circumference (AC) = 24.64 cm (30 weeks); femur length (FL) = 3.97 cm ( 0.18); humerus = 3.64 cm (diagnosis of achondroplasia (ACH) was made. DNA testing for the FGFR3 gene and whole-genome array comparative genomic hybridization (aCGH) analysis were performed using cord blood DNA obtained by cordocentesis. FGFR3 mutation analysis revealed a de novo heterozygous c.833A > G, TAC > TGC transversion in exon 7 leading to a p.Tyr278Cys (Y278C) mutation in the FGFR3 protein. aCGH analysis revealed no genomic imbalance in cord blood. After delivery, the fetus had short limbs, a narrow thorax, brachydactyly, and relative macrocephaly. Cytogenetic analysis of cultured placental cells revealed a karyotype of 46,XX. Prenatal diagnosis of abnormal ultrasound findings suspicious of ACH should include a differential diagnosis of HCH by molecular analysis of FGFR3. Copyright © 2013. Published by Elsevier B.V.

  20. Prenatal diagnosis of congenital paraesophageal hiatal hernia

    Directory of Open Access Journals (Sweden)

    Min Jeng Cho

    2018-05-01

    Full Text Available Abstracts: Congenital paraesophageal hiatal hernia (CPEH is a rare condition. CPEH can cause important clinical problems such as gastric volvulus, hematemesis, vomiting, failure to thrive, and respiratory distress, it requires early diagnosis and prompt surgical treatment. In this paper, we describe a case of CPEH that was suspected in a prenatal ultrasound. Postnatal upper gastrointestinal contrast series confirmed a CPEH with intrathoracic gastric volvulus. An emergency operation was performed. The stomach was reduced, the hiatal defect was repaired by crural approximation, and a Nissen fundoplication was done. The prenatal diagnosis of CPEH is unusual, but prenatal detection is important because it allows planned neonatal surgery before the onset of complications and reduces long-term morbidity. Keywords: Congenital paraesophageal hiatal hernia, Antenatal diagnosis, Gastric volvulus

  1. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.

    Science.gov (United States)

    Beaujard, M-P; Jouannic, J-M; Bessières, B; Borie, C; Martin-Luis, I; Fallet-Bianco, C; Portnoï, M-F

    2005-06-01

    To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities consisting of severe intrauterine growth retardation, microcephaly, a cleft lip and renal hypoplasia. Cytogenetic analysis and FISH studies of the cultured amniocytes revealed a de novo terminal inversion duplication of the short arm of chromosome 4 characterized by a duplication of 4p14-p16.1 chromosome region concomitant with a terminal deletion 4p16.1-pter. The karyotype was thus: 46,XX, inv dup del (4)(:p14-->p16.1::p16.1-->qter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and abnormalities consistent with a Wolf-Hirschhorn syndrome (WHS) diagnosis, clinical manifestations of partial 4p trisomy being mild. Although relatively rare, inverted duplications have been reported repeatedly in an increasing number of chromosomes. Only two previous cases with de novo inv dup del (4p) and one with tandem dup 4p have been reported, all of them associated with a 4pter deletion. We report the first case diagnosed prenatally. Breakpoints are variable, resulting in different abnormal phenotype. In our case, clinical manifestations resulted in a WHS phenotype.

  2. A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.

    Science.gov (United States)

    Tzeng, C-C; Tsai, L-P; Chang, Y-K; Hung, Y-J; Chang, Y-Y; Su, Y-P; Jiang, J-J; Liang, H-M

    2017-08-01

    Here, we review the results of Southern blotting analyses of the FMR1 gene performed in our reference laboratory in Taiwan over a 15-year period. In total, 725 high-risk women with a family history of fragile X syndrome (FXS) or idiopathic intellectual disability, 3911 low-risk pregnant women without such family history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only 2 carriers were in the low-risk group, which indicated a prevalence of 1 of 1955 women (95% confidence interval: 1/7156-1/539). A total of 100 carriers were found to be in the high-risk group, thus revealing a significantly higher frequency than the low-risk group (100/725 vs 2/3911, P<0.0001). Eight of the 14 foetuses that inherited the maternal mutant allele were verified to have a full mutation, with the smallest maternal pre-mutation allele carrying 56 CGG repeats. The overall findings confirmed that the carrier prevalence among low-risk women in Taiwan is significantly lower than that reported in western countries. Therefore, the most important step for preventing FXS in Taiwan would be to focus on high-risk women by promoting general awareness of this disease and spreading knowledge regarding the benefits of carrier screening and prenatal testing. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.

    Science.gov (United States)

    Chen, Chih-Ping; Chang, Shuenn-Dyh; Wang, Tzu-Hao; Wang, Liang-Kai; Tsai, Jeng-Daw; Liu, Yu-Peng; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Wang, Wayseen

    2013-12-01

    This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes. aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother. Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion. Copyright © 2013. Published by Elsevier B.V.

  4. Detection of Fetal Abnormalities Based on Three Dimensional Nuchal Translucency

    CERN Document Server

    Lai, Khin Wee

    2013-01-01

    Ultrasound (US) prenatal screening has been proposed as the most effective technique for Trisomy 21 early assessment. Assessment of Nuchal Translucency (NT) offers promising non-invasive method for fetal abnormalities detection up to 75%. Nevertheless, current clinician practice of NT examination by locating the sonogram calipers on 2D US image requires highly trained and competent operators by adhering to a standard tedious protocol; therefore it is prone to errors and hence it decreases the reliability in intra- and inter-observer repeatability. This Brief provides the basic knowledge regarding Trisomy 21 diseases and its existing detection methods. The restrictions and disadvantages of each method are discussed accordingly. Therefore, a non-invasive early detection method using 3D ultrasound reconstruction of Nuchal Translucency is introduced. This new method for 3D NT assessments has an edge over the previous 2D methods, and entails the composite function in visualizing the explicit internal marker struct...

  5. Prenatal Sonographic Findings of Polysplenic Syndrome

    International Nuclear Information System (INIS)

    Yoo, Jeong Hyun; Suh, Jeong Soo; Lee, Young Ho

    2004-01-01

    We report 6 cases of polysplenic syndrome diagnosed on prenatal sonography. The mean menstrual age at the time of presentation was 275 weeks (range 184 to 38 weeks). All cases were examined using level-II prenatal sonography. The sonographic findings of polysplenic syndrome were retrograde analyzed and compared to the autopsy or postnatal findings. Polysplenia was detected in 5 cases on the prenatal sonography. Associated cardiovascular anomalies were detected in all 6 cases, all of which had more than one anomaly, namely complete atrioventricular septal defect in two cases, double outlet right ventricle combined with rudimentary LV or mitral atresia in two cases and VSD and ASD in one case each. There were three cases of interrupted IVC with azygous continuation of the posterior thorax. Bradycardia was observed in 2 cases, one of which showed AV dissociation of rhythm. Visceral abnormalities were present in all cases and there were combined anomalies such as echogenic bowel, pelviectasia, horseshoe kidney, and posterior neck cystic hygroma and fetal hydrops. Four cases terminated pregnancy. The autopsy results of 2 cases were comparable to those of the prenatal sonography, however autopsies were not performed in 2 cases. One fetus near term was delivered and the baby subsequently underwent heart surgery and was still alive at the last follow-up. The remaining one case was lost to follow-up. If multiple fetal anomalies, including complex heart disease and polysplenia, are detected in the prenatal sonography, a diagnosis of polysplenic syndrome can be made. IVC interruption with azygous continuation can also be helpful in the diagnosis of polysplenic syndrome, and this can be observed by detecting the double vessel of the posterior thorax

  6. Prenatal Care: Second Trimester Visits

    Science.gov (United States)

    ... Pregnancy week by week During the second trimester, prenatal care includes routine lab tests and measurements of your ... too. By Mayo Clinic Staff The goal of prenatal care is to ensure that you and your baby ...

  7. Prenatal Care: Third Trimester Visits

    Science.gov (United States)

    ... Pregnancy week by week During the third trimester, prenatal care might include vaginal exams to check the baby's position. By Mayo Clinic Staff Prenatal care is an important part of a healthy pregnancy, ...

  8. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  9. Non-invasive detection and quantification of brain microvascular deficits by near-infrared spectroscopy in a rat model of Vascular Cognitive Impairment

    Science.gov (United States)

    Hallacoglu, Bertan; Sassaroli, Angelo M.; Rosenberg, Irwin H.; Troen, Aron; Fantini, Sergio

    2011-02-01

    Structural abnormalities in brain microvasculature are commonly associated with Alzheimer's Disease and other dementias. However, the extent to which structural microvascular abnormalities cause functional impairments in brain circulation and thereby to cognitive impairment is unclear. Non-invasive, near-infrared spectroscopy (NIRS) methods can be used to determine the absolute hemoglobin concentration and saturation in brain tissue, from which additional parameters such as cerebral blood volume (a theoretical correlate of brain microvascular density) can be derived. Validating such NIRS parameters in animal models, and understanding their relationship to cognitive function is an important step in the ultimate application of these methods to humans. To this end we applied a non-invasive multidistance NIRS method to determine the absolute concentration and saturation of cerebral hemoglobin in rat, by separately measuring absorption and reduced scattering coefficients without relying on pre- or post-correction factors. We applied this method to study brain circulation in folate deficient rats, which express brain microvascular pathology1 and which we have shown to develop cognitive impairment.2 We found absolute brain hemoglobin concentration ([HbT]) and oxygen saturation (StO2) to be significantly lower in folate deficient rats (n=6) with respect to control rats (n=5) (for [HbT]: 73+/-10 μM vs. 95+/-14 μM for StO2: 55%+/-7% vs. 66% +/-4%), implicating microvascular pathology and diminished oxygen delivery as a mechanism of cognitive impairment. More generally, our study highlights how noninvasive, absolute NIRS measurements can provide unique insight into the pathophysiology of Vascular Cognitive Impairment. Applying this method to this and other rat models of cognitive impairment will help to validate physiologically meaningful NIRS parameters for the ultimate goal of studying cerebral microvascular disease and cognitive decline in humans.

  10. Mutation, detection, prenatal testing, and delineation of the germline origin in a family with sporadic hemophilia B and no living hemophiliacs

    Energy Technology Data Exchange (ETDEWEB)

    Vielhaber, E.; Sommer, S.S. [Mayo Clinic/Foundation, Rochester, MN (United States); Freedenberg, D. [Scott and White Clinic, Temple, TX (United States)

    1994-01-15

    Hemophilia B is an X-linked recessive disorder affecting 1 in 30,000 males. Determination of carrier status for at risk females can be done by utilizing indirect methods such as DNA sequencing. However, in most cases, reliable carrier testing is not possible without first analyzing the DNA from an affected male in the family to determine his haplotype/causative sequence change. In the case presented here, the only affected male in the family has been deceased for 25 years; no DNA was available from him. The sister (III-2) of the affected individual was a suspected carrier based on her factor IX coagulant (36%); she was pregnant with a male fetus, and requested prenatal testing. 6 refs., 2 figs.

  11. Prenatal screening for congenital anomalies: exploring midwives' perceptions of counseling clients with religious backgrounds.

    Science.gov (United States)

    Gitsels-van der Wal, Janneke T; Manniën, Judith; Gitsels, Lisanne A; Reinders, Hans S; Verhoeven, Pieternel S; Ghaly, Mohammed M; Klomp, Trudy; Hutton, Eileen K

    2014-07-19

    In the Netherlands, prenatal screening follows an opting in system and comprises two non-invasive tests: the combined test to screen for trisomy 21 at 12 weeks of gestation and the fetal anomaly scan to detect structural anomalies at 20 weeks. Midwives counsel about prenatal screening tests for congenital anomalies and they are increasingly having to counsel women from religious backgrounds beyond their experience. This study assessed midwives' perceptions and practices regarding taking client's religious backgrounds into account during counseling. As Islam is the commonest non-western religion, we were particularly interested in midwives' knowledge of whether pregnancy termination is allowed in Islam. This exploratory study is part of the DELIVER study, which evaluated primary care midwifery in The Netherlands between September 2009 and January 2011. A questionnaire was sent to all 108 midwives of the twenty practices participating in the study. Of 98 respondents (response rate 92%), 68 (69%) said they took account of the client's religion. The two main reasons for not doing so were that religion was considered irrelevant in the decision-making process and that it should be up to clients to initiate such discussions. Midwives' own religious backgrounds were independent of whether they paid attention to the clients' religious backgrounds. Eighty midwives (82%) said they did not counsel Muslim women differently from other women. Although midwives with relatively many Muslim clients had more knowledge of Islamic attitudes to terminating pregnancy in general than midwives with relatively fewer Muslim clients, the specific knowledge of termination regarding trisomy 21 and other congenital anomalies was limited in both groups. While many midwives took client's religion into account, few knew much about Islamic beliefs on prenatal screening for congenital anomalies. Midwives identified a need for additional education. To meet the needs of the changing client population

  12. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

    NARCIS (Netherlands)

    Chitty, Lyn S.; Khalil, Asma; Barrett, Angela N.; Pajkrt, Eva; Griffin, David R.; Cole, Tim J.

    2013-01-01

    To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. Fetuses with a confirmed

  13. Prenatal RhD Testing : A Review of Studies Published from 2006 to 2008

    NARCIS (Netherlands)

    Legler, Tobias Joerg; Mueller, Sina Patricia; Haverkamp, Alexander; Grill, Simon; Hahn, Sinuhe

    2009-01-01

    The availability of noninvasive prenatal diagnosis for the fetal RhD status (NIPD RhD) is an obvious benefit for alloimmunized pregnant women. This review gives information about the performance characteristics of current diagnostic technologies and recent promising proof-of-principle studies.

  14. Prenatal stress in pigs

    NARCIS (Netherlands)

    Kranendonk, Godelieve

    2006-01-01

    Studies in many species, including humans, have demonstrated that stress during gestation can have long-term developmental, neuroendocrine, and behavioural effects on the offspring. Because pregnant sows can be subjected to regular stressful situations, it is relevant to study whether prenatal

  15. A matter of collection and detection for intraoperative and noninvasive near-infrared fluorescence molecular imaging: To see or not to see?

    Science.gov (United States)

    Zhu, Banghe; Rasmussen, John C.; Sevick-Muraca, Eva M.

    2014-01-01

    Purpose: Although fluorescence molecular imaging is rapidly evolving as a new combinational drug/device technology platform for molecularly guided surgery and noninvasive imaging, there remains no performance standards for efficient translation of “first-in-humans” fluorescent imaging agents using these devices. Methods: The authors employed a stable, solid phantom designed to exaggerate the confounding effects of tissue light scattering and to mimic low concentrations (nM–pM) of near-infrared fluorescent dyes expected clinically for molecular imaging in order to evaluate and compare the commonly used charge coupled device (CCD) camera systems employed in preclinical studies and in human investigational studies. Results: The results show that intensified CCD systems offer greater contrast with larger signal-to-noise ratios in comparison to their unintensified CCD systems operated at clinically reasonable, subsecond acquisition times. Conclusions: Camera imaging performance could impact the success of future “first-in-humans” near-infrared fluorescence imaging agent studies. PMID:24506637

  16. Serum galectin-9 as a noninvasive biomarker for the detection of endometriosis and pelvic pain or infertility-related gynecologic disorders.

    Science.gov (United States)

    Brubel, Reka; Bokor, Attila; Pohl, Akos; Schilli, Gabriella Krisztina; Szereday, Laszlo; Bacher-Szamuel, Reka; Rigo, Janos; Polgar, Beata

    2017-12-01

    To investigate the usefulness of soluble galectin-9 (Gal-9) in the noninvasive laboratory diagnosis of endometriosis and various gynecologic disorders. Prospective case-control study. University medical centers. A total of 135 women of reproductive age were involved in the study, 77 endometriosis patients, 28 gynecologic controls, and 30 healthy women. Diagnostic laparoscopy and collection of tissue biopsies, peritoneal cells, and native peripheral blood from different case groups of gynecology patients and healthy women. The expression of mRNA and serum concentration of Gal-9. Semiquantitative reverse transcription-polymerase chain reaction analysis and serum soluble Gal-9 ELISA were performed on three different cohorts of patients: those with endometriosis, those with benign gynecologic disorders, and healthy controls. Differences in the Gal-9 concentrations between the investigated groups and the stability of Gal-9 in the serum and diagnostic characteristics of Gal-9 ELISA were determined by statistical evaluation and receiver operating characteristic (ROC) curve analysis. Significantly elevated Gal-9 levels were found in both minimal-mild (I-II) and moderate-severe (III-IV) stages of endometriosis in comparison with healthy controls. At a cutoff of 132 pg/mL, ROC analysis revealed an excellent diagnostic value of Gal-9 ELISA in endometriosis (area under the curve = 0.973) with a sensitivity of 94% and specificity of 93.75%, indicating better diagnostic potential than that of other endometriosis biomarkers. Furthermore, various pelvic pain or infertility-associated benign gynecologic conditions were also associated with increased serum Gal-9 levels. Our results suggest that Gal-9 could be a promising noninvasive biomarker of endometriosis and a predictor of various infertility or pelvic pain-related gynecologic disorders. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  17. The Prenatal Care at School Program

    Science.gov (United States)

    Griswold, Carol H.; Nasso, Jacqueline T.; Swider, Susan; Ellison, Brenda R.; Griswold, Daniel L.; Brooks, Marilyn

    2013-01-01

    School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education…

  18. [Prenatal care in Latin America].

    Science.gov (United States)

    Buekens, P; Hernández, P; Infante, C

    1990-01-01

    Available data on the coverage of prenatal care in Latin America were reviewed. In recent years, only Bolivia had a coverage of prenatal care of less than 50 per cent. More than 90 per cent of pregnant women received prenatal care in Chile, Cuba, the Dominican Republic, and Puerto Rico. Prenatal care increased between the 1970 and 1980 in the Dominican Republic, Ecuador, Guatemala, Honduras, Mexico, and Peru. The coverage of prenatal care decreased in Bolivia and Colombia. The mean number of visits increased in Cuba and Puerto Rico. The increase of prenatal care in Guatemala and Honduras is due to increased care by traditional birth attendants, compared to the role of health care institutions. We compared the more recent data on tetanus immunization of pregnant women to the more recent data on prenatal care. The rates of tetanus immunization are always lower than the rates of prenatal care attendance, except in Costa Rica. The rates of tetanus immunization was less than half as compared to the rates of prenatal care in Bolivia, Guatemala, and Peru. To improve the content of prenatal care should be an objective complementary to the increase of the number of attending women.

  19. Non-invasive diagnostic assessment tools for the detection of liver fibrosis in patients with suspected alcohol-related liver disease: a systematic review and economic evaluation.

    Science.gov (United States)

    Stevenson, M; Lloyd-Jones, M; Morgan, M Y; Wong, R

    2012-01-01

    Excessive alcohol consumption may lead to the development of alcohol-related liver disease (ALD). Liver biopsy may be used in patients with suspected ALD to confirm the diagnosis, exclude other or additional liver pathologies, and provide accurate staging of the degree of liver injury in order to enable the prediction of prognosis and inform treatment decisions. However, as it is an invasive procedure that carries the risk of morbidity and mortality, current UK guidance recommends that biopsy is not required to confirm the diagnosis in patients with a high clinical suspicion of ALD in whom blood tests have excluded other causes of liver disease, unless it is necessary to confirm a diagnosis of acute alcoholic hepatitis in order to inform specific treatment decisions. To evaluate the diagnostic accuracy, cost-effectiveness, and effect on patient outcomes of four non-invasive tests for liver fibrosis [the Enhanced Liver Fibrosis (ELF™) test (Siemens Healthcare Diagnostic Inc., Tarrytown, NY, USA), FibroTest (BioPredictive, Paris, France), FibroMAX (BioPredictive, Paris, France) and transient elastography (FibroScan(®); produced by EchoSens, Paris, France and distributed in the UK by Artemis Medical Ltd, Kent, UK)] in patients suspected of having ALD. A systematic review was undertaken to identify studies reporting the diagnostic and prognostic accuracy of the ELF test, FibroTest, FibroMAX, and FibroScan for the identification of liver fibrosis and associated conditions in patients with suspected ALD. The following databases were searched in January 2010: MEDLINE (from 1950 to January 2010), MEDLINE In-Process & Other Non-Indexed Citations (from 1950 to January 2010), EMBASE (from 1980 to January 2010), Cochrane Database of Systematic Reviews (from 1996 to January 2010), Cochrane Central Register of Controlled Trials (from 1898 to January 2010), Cochrane Methodology Register (from 1904 to January 2010), Database of Abstracts of Reviews of Effects (from 1995 to

  20. Prenatal testosterone and stuttering.

    Science.gov (United States)

    Montag, Christian; Bleek, Benjamin; Breuer, Svenja; Prüss, Holger; Richardt, Kirsten; Cook, Susanne; Yaruss, J Scott; Reuter, Martin

    2015-01-01

    The prevalence of stuttering is much higher in males compared to females. The biological underpinnings of this skewed sex-ratio is poorly understood, but it has often been speculated that sex hormones could play an important role. The present study investigated a potential link between prenatal testosterone and stuttering. Here, an indirect indicator of prenatal testosterone levels, the Digit Ratio (2D:4D) of the hand, was used. As numerous studies have shown, hands with more "male" characteristics (putatively representing greater prenatal testosterone levels) are characterized by a longer ring finger compared to the index finger (represented as a lower 2D:4D ratio) in the general population. We searched for differences in the 2D:4D ratios between 38 persons who stutter and 36 persons who do not stutter. In a second step, we investigated potential links between the 2D:4D ratio and the multifaceted symptomatology of stuttering, as measured by the Overall Assessment of the Speaker's Experience of Stuttering (OASES), in a larger sample of 44 adults who stutter. In the first step, no significant differences in the 2D:4D were observed between individuals who stutter and individuals who do not stutter. In the second step, 2D:4D correlated negatively with higher scores of the OASES (representing higher negative experiences due to stuttering), and this effect was more pronounced for female persons who stutter. The findings indicate for the first time that prenatal testosterone may influence individual differences in psychosocial impact of this speech disorder. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. Genes Underlying Positive Influence Of Prenatal Environmental ...

    African Journals Online (AJOL)

    Genes Underlying Positive Influence Of Prenatal Environmental Enrichment And ... Prenatal environmental enrichment (EE) has been proven to positively affect but ... Conclusion: The negative-positive prenatal effect could contribute to altered ...

  2. [Innovative Prenatal Testing: Clinical Applications and Ethical Considerations].

    Science.gov (United States)

    Huang, Mei-Chih; Lin, Shio-Jean; Chen, Chih-Ling; Huang, Tzu-Jung

    2017-10-01

    The biomedical technology related to prenatal screen/diagnosis has developed rapidly in recent decades. Many prenatal genetic examinations are now available to assist pregnant women to better understand the status and development of their fetus. Moreover, many commercial advertisements for innovative prenatal examinations are now shown in the media. Cell-free DNA Screening (cfDNA screening), a non-invasive prenatal testing (NIPT) procedure, is a safe and high accuracy test that may be done at an earlier gestational age to screen for fetal aneuploidy. The following questions should be considered when applying cfDNA screening in clinical practice: 1. what is cfDNA screening, 2. who are its potential users, and 3. what ethical and policy considerations are associated with this examination? This article provides relevant information, clinical practice guidelines, and ethical / policy considerations related to cfDNA screening. Discussing cases involving different clinical situations helps promote understanding of cfDNA screening and maternal-care quality.

  3. The non-invasive 13C-methionine breath test detects hepatic mitochondrial dysfunction as a marker of disease activity in non-alcoholic steatohepatitis

    Directory of Open Access Journals (Sweden)

    Banasch M

    2012-06-01

    Full Text Available Abstract Introduction Mitochondrial dysfunction plays a central role in the general pathogenesis of non-alcoholic fatty liver disease (NAFLD, increasing the risk of developing steatosis and subsequent hepatocellular inflammation. We aimed to assess hepatic mitochondrial function by a non-invasive 13C-methionine breath test (MeBT in patients with histologically proven NAFLD. Methods 118 NAFLD-patients and 18 healthy controls were examined by MeBT. Liver biopsy specimens were evaluated according to the NASH scoring system. Results Higher grades of NASH activity and fibrosis were independently associated with a significant decrease in cumulative 13C-exhalation (expressed as cPDR(%. cPDR1.5h was markedly declined in patients with NASH and NASH cirrhosis compared to patients with simple steatosis or borderline diagnosis (cPDR1.5h: 3.24 ± 1.12% and 1.32 ± 0.94% vs. 6.36 ± 0.56% and 4.80 ± 0.88% respectively; p 13C-exhalation further declined in the presence of advanced fibrosis which was correlated with NASH activity (r = 0.36. The area under the ROC curve (AUROC for NASH diagnosis was estimated to be 0.87 in the total cohort and 0.83 in patients with no or mild fibrosis (F0-1. Conclusion The 13C-methionine breath test indicates mitochondrial dysfunction in non-alcoholic fatty liver disease and predicts higher stages of disease activity. It may, therefore, be a valuable diagnostic addition for longitudinal monitoring of hepatic (mitochondrial function in non-alcoholic fatty liver disease.

  4. PSMA-Targeted Nano-Conjugates as Dual-Modality (MRI/PET) Imaging Probes for the Non-Invasive Detection of Prostate Cancer

    National Research Council Canada - National Science Library

    Sun, Xiankai

    2008-01-01

    The goal of this project is to develop dual modality imaging probes for the detection of prostate cancer by doping radioisotopes to iron oxide nanoparticles, so that the sensitivity and specificity...

  5. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

    Directory of Open Access Journals (Sweden)

    Gianfranca Damiani

    2014-09-01

    Full Text Available Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

  6. Noninvasive Urodynamic Evaluation

    Directory of Open Access Journals (Sweden)

    Carlos Arturo Levi D'Ancona

    2012-09-01

    Full Text Available The longevity of the world's population is increasing, and among male patients, complaints of lower urinary tract symptoms (LUTS are growing. Testing to diagnose LUTS and to differentiate between the various causes should be quick, easy, cheap, specific, not too bothersome for the patient, and noninvasive or minimally so. Urodynamic evaluation is the gold standard for diagnosing bladder outlet obstruction (BOO but presents some inconveniences such as embarrassment, pain, and dysuria; furthermore, 19% of cases experience urinary retention, macroscopic hematuria, or urinary tract infection. A greater number of resources in the diagnostic armamentarium could increase the opportunity for selecting less invasive tests. A number of groups have risen to this challenge and have formulated and developed ideas and technologies to improve noninvasive methods to diagnosis BOO. These techniques start with flowmetry, an increase in the interest of ultrasound, and finally the performance of urodynamic evaluation without a urethral catheter. Flowmetry is not sufficient for confirming a diagnosis of BOO. Ultrasound of the prostate and the bladder can help to assess BOO noninvasively in all men and can be useful for evaluating the value of BOO at assessment and during treatment of benign prostatic hyperplasia patients in the future. The great advantages of noninvasive urodynamics are as follows: minimal discomfort, minimal risk of urinary tract infection, and low cost. This method can be repeated many times, permitting the evaluation of obstruction during clinical treatment. A urethral connector should be used to diagnose BOO, in evaluation for surgery, and in screening for treatment. In the future, noninvasive urodynamics can be used to identify patients with BOO to initiate early medical treatment and evaluate the results. This approach permits the possibility of performing surgery before detrusor damage occurs.

  7. Predicting postnatal renal function of prenatally detected posterior urethral valves using fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient determination.

    Science.gov (United States)

    Faure, Alice; Panait, Nicoleta; Panuel, Michel; Alessandrini, Pierre; D'Ercole, Claude; Chaumoitre, Kathia; Merrot, Thierry

    2017-07-01

    The objective of this study was to evaluate the accuracy of fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient (ADC) determination to predict postnatal renal function (nadir creatinine at 1 year and eGFR) of men with posterior urethral valves (PUV). Between 2003 and 2014, 11 MRI were performed on fetuses (between 28 and 32 weeks) in whom second trimester sonography suggested severe bilateral urinary tract anomalies, suspected of PUV. The ADC of the 11 fetuses ranged from 1.3 to 2.86 mm 2  s -1 (median = 1.79 mm 2  s -1 , normal range for fetal kidney: 1.1-1.8). Two pregnancies with ADC > 2.6 mm 2  s -1 were interrupted; the autopsy confirmed PUV and Potter syndrome. For the remaining nine babies, the follow-up was 5.4 years (0.8-10). Four children with abnormal ADC (1.8-2.3) had chronic kidney disease. The remaining five cases with normal nadir creatinine and eGFR had normal ADC. One case with unilateral elevated ADC had a poor ipsilateral renal function on dimercaptosuccinic acid scan. Here, it seems that diffusion-weighted magnetic resonance imaging with ADC determination could be useful in accurately evaluating fetal kidneys in PUV and predicting renal function. It may be an additional, non-invasive method when biologic and sonographic findings are inconclusive, especially in the case of oligohydramnios. Further studies are needed to confirm our data. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  8. Prenatal sonographic diagnosis of diastrophic dwarfism.

    Science.gov (United States)

    Tongsong, Theera; Wanapirak, Chanane; Sirichotiyakul, Supatra; Chanprapaph, Pharuhas

    2002-02-01

    A healthy 27-year-old pregnant woman underwent sonographic examination because her uterine size was large for 20 weeks' menstrual age. Sonograms showed short fetal limbs with hitchhiker thumbs and toes, thoracic scoliosis, clubbed feet, and polyhydramnios. The ossification of all bony structures appeared normal, and there was no evidence of fractures. On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism. We counseled the parents, and the pregnancy was continued. At 37 weeks menstrual age, the patient vaginally delivered a male infant that weighed 2,560 g. The infant survived with respiratory support during his first few days of life. Postnatal physical and radiologic examinations confirmed the prenatal diagnosis of diastrophic dwarfism. Sonography is the modality of choice for prenatal detection of diastrophic dwarfism. Copyright 2002 John Wiley & Sons, Inc.

  9. The Cell-CT 3D Cell Imaging Technology Platform Enables the Detection of Lung Cancer Using the Non-Invasive LuCED Sputum Test

    Science.gov (United States)

    Meyer, Michael G.; Hayenga, Jon; Neumann, Thomas; Katdare, Rahul; Presley, Chris; Steinhauer, David; Bell, Timothy; Lancaster, Christy; Nelson, Alan C.

    2015-01-01

    The war against cancer has yielded important advances in the early diagnosis and treatment of certain cancer types, but the poor detection rate and 5-year survival rate for lung cancer remains little changed over the past 40 years. Early detection through emerging lung cancer screening programs promises the most reliable means of improving mortality. Sputum cytology has been tried without success because sputum contains few malignant cells that are difficult for cytologists to detect. However, research has shown that sputum contains diagnostic malignant cells and could serve as a means of lung cancer detection if those cells could be detected and correctly characterized. Recently, the National Lung Cancer Screening Trial reported that screening by three consecutive low-dose X-ray CT scans provides a 20% reduction in lung cancer mortality compared to chest X-ray. This reduction in mortality, however, comes with an unacceptable false positive rate that increases patient risks and the overall cost of lung cancer screening. This article reviews the LuCED® test for detecting early lung cancer. LuCED is based on patient sputum that is enriched for bronchial epithelial cells. The enriched sample is then processed on the Cell-CT®, which images cells in three dimensions with sub-micron resolution. Algorithms are applied to the 3D cell images to extract morphometric features that drive a classifier to identify cells that have abnormal characteristics. The final status of these candidate abnormal cells is established by the pathologist's manual review. LuCED promotes accurate cell classification which could enable cost effective detection of lung cancer. PMID:26148817

  10. Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.

    Science.gov (United States)

    Chitty, Lyn S; Hudgins, Louanne; Norton, Mary E

    2018-02-01

    Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) from maternal serum has been clinically available since 2011. This technology has revolutionized our ability to screen for the common aneuploidies trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. More recently, clinical laboratories have offered screening for other chromosome abnormalities including sex chromosome abnormalities and copy number variants (CNV) without little published data on the sensitivity, specificity, and positive predictive value. In this debate, the pros and cons of performing prenatal screening via cfDNA for all chromosome abnormalities is discussed. At the time of the debate in 2017, the general consensus was that the literature does not yet support using this technology to screen for all chromosome abnormalities and that education is key for both providers and the patients so that the decision-making process is as informed as possible. © 2018 John Wiley & Sons, Ltd.

  11. Prenatal Care: First Trimester Visits

    Science.gov (United States)

    ... care provider will discuss the importance of proper nutrition and prenatal vitamins. Your first prenatal visit is a good time to discuss exercise, sex during pregnancy and other lifestyle issues. You might also discuss your work environment and the use of medications during pregnancy. If ...

  12. Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography

    Science.gov (United States)

    Homozygous familial hypercholesterolemia (HoFH) is a rare disorder characterized by the early onset of atherosclerosis, often at the ostia of coronary arteries. In this study we document for the first time that aortic and coronary atherosclerosis can be detected using 64 slice multiple detector row ...

  13. Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

    DEFF Research Database (Denmark)

    Winding, Louise; Loane, Maria; Wellesley, Diana

    2014-01-01

    ). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or resulted in an intrauterine fetal death, respectively. The prenatal detection rate was 88% in both unilateral and bilateral cases. Birth outcome differed with 92% of unilateral MCKD cases being liveborn...... MCKD are often associated with nonrenal major congenital anomalies or part of a syndrome, and only one third of bilateral MCKD cases in this study were liveborn. Prenatal detection rate of MCKD was high for both unilateral and bilateral cases. © 2014 John Wiley & Sons, Ltd....

  14. Should prenatal hydronephrosis that resolves before birth be followed postnatally? Analysis and comparison to persistent prenatal hydronephrosis.

    Science.gov (United States)

    Scarborough, Patrick L; Ferrara, Elizabeth; Storm, Douglas W

    2015-09-01

    Prenatal ultrasonography has greatly enhanced detection of congenital genitourinary abnormalities. However, although persistent prenatal hydronephrosis (PPH) is typically imaged and followed postnatally, it remains unclear if prenatal hydronephrosis that resolves in utero (RPH) should be similarly managed. We determined postnatal abnormalities associated with RPH and compared these to those associated with PPH. We performed a retrospective review of all consecutive patients evaluated for prenatal hydronephrosis over 24 months. Patients were followed prenatally with serial ultrasounds and postnatally with ultrasonography and a voiding cystourethrogram. Of the consecutive 165 patients enrolled in the study, 72 had RPH. The average prenatal anterior-posterior renal pelvis length was significantly longer in patients with PPH (5.5 mm) than in those with RPH (4.9 mm) (p = 0.01). Recurrent postnatal hydronephrosis occurred in 44% of patients with RPH, with eventual resolution in 34% of those affected. In comparison, 29% of PPH cases resolved postnatally. Mean time to resolution was statistically shorter for PPH (116 days) than for RPH (175 days) (p = 0.01). Seven PPH patients required surgery, while no RPH patients needed intervention (difference was statistically significant). A significant number of RPH children had postnatal hydronephrosis. Despite a slower resolution time, no children with RPH required intervention. Although RPH may recur postnatally, the significantly lower chance of intervention being required suggests that these children may not require postnatal imaging.

  15. : ventilators for noninvasive ventilation

    OpenAIRE

    Fauroux , Brigitte; Leroux , Karl; Desmarais , Gilbert; Isabey , Daniel; Clément , Annick; Lofaso , Frédéric; Louis , Bruno

    2008-01-01

    International audience; The aim of the present study was to evaluate the performance characteristics of all the ventilators proposed for home noninvasive positive-pressure ventilation in children in France. The ventilators (one volume-targeted, 12 pressure-targeted and four dual) were evaluated on a bench which simulated six different paediatric ventilatory patterns. For each ventilator, the quality of the inspiratory and expiratory trigger and the ability to reach and maintain the preset pre...

  16. Excreted Thiocyanate Detects Live Reef Fishes Illegally Collected Using Cyanide—A Non-Invasive and Non-Destructive Testing Approach

    Science.gov (United States)

    Vaz, Marcela C. M.; Rocha-Santos, Teresa A. P.; Rocha, Rui J. M.; Lopes, Isabel; Pereira, Ruth; Duarte, Armando C.; Rubec, Peter J.; Calado, Ricardo

    2012-01-01

    Cyanide fishing is a method employed to capture marine fish alive on coral reefs. They are shipped to markets for human consumption in Southeast Asia, as well as to supply the marine aquarium trade worldwide. Although several techniques can be used to detect cyanide in reef fish, there is still no testing method that can be used to survey the whole supply chain. Most methods for cyanide detection are time-consuming and require the sacrifice of the sampled fish. Thiocyanate anion (SCN−) is a metabolite produced by the main metabolic pathway for cyanide anion (CN−) detoxification. Our study employed an optical fiber (OF) methodology (analytical time 3.16 µg L−1) of SCN− in seawater. Given that marine fish exposed to cyanide excrete SCN− in the urine, elevated levels of SCN− present in the seawater holding live reef fish indicate that the surveyed specimens were likely exposed to cyanide. In our study, captive-bred clownfish (Amphiprion clarkii) pulse exposed for 60 s to either 12.5 or 25 mg L−1 of CN− excreted up to 6.96±0.03 and 9.84±0.03 µg L−1 of SCN−, respectively, during the 28 days following exposure. No detectable levels of SCN− were recorded in the water holding control organisms not exposed to CN−, or in synthetic seawater lacking fish. While further research is necessary, our methodology can allow a rapid detection of SCN− in the holding water and can be used as a screening tool to indicate if live reef fish were collected with cyanide. PMID:22536375

  17. Noninvasive imaging of breast cancer

    International Nuclear Information System (INIS)

    Medarova, Z.

    2009-01-01

    With the development of molecularly targeted cancer therapies, it is highly advantageous to be able to determine their efficacy, to improve overall patient survival. Non-invasive imaging techniques are currently available for visualizing different pathological conditions of the human body, but their use for cancer monitoring is limited due to the lack of tumor-specific imaging probes. This review will attempt to summarize the current clinical diagnostic approaches for breast cancer detection, staging, and therapy assessment. In addition, I will present some novel concepts from the field of molecular imaging that form the basis of some of our research. We believe that this general imaging strategy has the potential of significantly advancing our ability to diagnose breast cancer at the earliest stages of the pathology, before any overt clinical symptoms have developed, as well as to better direct the development of molecularly-targeted individualized therapy protocols.

  18. Prenatal vitamins: what is in the bottle?

    Science.gov (United States)

    Duerbeck, Norman B; Dowling, David D; Duerbeck, Jillinda M

    2014-12-01

    Nearly all obstetricians routinely prescribe prenatal vitamins to their pregnant patients at the time of the first prenatal visit. Many times, patients' understanding of the health benefits of prenatal vitamins differs substantially from that of the prescribing physician. The following is a review of the most common ingredients found in prenatal vitamins and their purported health benefits.

  19. Detection of haplotypes associated with prenatal death in dairy cattle and identification of deleterious mutations in GART, SHBG and SLC37A2

    OpenAIRE

    Fritz, Sebastien; Capitan, Aurelien; Djari, Anis; Rodriguez, Sabrina; Barbat, Anne; Baur, Aurélia; Grohs, Cecile; Weiss, Bernard; Boussaha, Mekki; Esquerre, Diane; Klopp, Christophe; Rocha, Dominique

    2013-01-01

    The regular decrease of female fertility over time is a major concern in modern dairy cattle industry. Only half of this decrease is explained by indirect response to selection on milk production, suggesting the existence of other factors such as embryonic lethal genetic defects. Genomic regions harboring recessive deleterious mutations were detected in three dairy cattle breeds by identifying frequent haplotypes (>1%) showing a deficit in homozygotes among Illumina Bovine 50k Beadchip haplot...

  20. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

    Science.gov (United States)

    Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

    2015-12-01

    The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

  1. Detection of haplotypes associated with prenatal death in dairy cattle and identification of deleterious mutations in GART, SHBG and SLC37A2.

    Directory of Open Access Journals (Sweden)

    Sébastien Fritz

    Full Text Available The regular decrease of female fertility over time is a major concern in modern dairy cattle industry. Only half of this decrease is explained by indirect response to selection on milk production, suggesting the existence of other factors such as embryonic lethal genetic defects. Genomic regions harboring recessive deleterious mutations were detected in three dairy cattle breeds by identifying frequent haplotypes (>1% showing a deficit in homozygotes among Illumina Bovine 50k Beadchip haplotyping data from the French genomic selection database (47,878 Holstein, 16,833 Montbéliarde, and 11,466 Normande animals. Thirty-four candidate haplotypes (p<10(-4 including previously reported regions associated with Brachyspina, CVM, HH1, and HH3 in Holstein breed were identified. Haplotype length varied from 1 to 4.8 Mb and frequencies from 1.7 up to 9%. A significant negative effect on calving rate, consistent in heifers and in lactating cows, was observed for 9 of these haplotypes in matings between carrier bulls and daughters of carrier sires, confirming their association with embryonic lethal mutations. Eight regions were further investigated using whole genome sequencing data from heterozygous bull carriers and control animals (45 animals in total. Six strong candidate causative mutations including polymorphisms previously reported in FANCI (Brachyspina, SLC35A3 (CVM, APAF1 (HH1 and three novel mutations with very damaging effect on the protein structure, according to SIFT and Polyphen-2, were detected in GART, SHBG and SLC37A2 genes. In conclusion, this study reveals a yet hidden consequence of the important inbreeding rate observed in intensively selected and specialized cattle breeds. Counter-selection of these mutations and management of matings will have positive consequences on female fertility in dairy cattle.

  2. Detection of haplotypes associated with prenatal death in dairy cattle and identification of deleterious mutations in GART, SHBG and SLC37A2.

    Science.gov (United States)

    Fritz, Sébastien; Capitan, Aurelien; Djari, Anis; Rodriguez, Sabrina C; Barbat, Anne; Baur, Aurélia; Grohs, Cécile; Weiss, Bernard; Boussaha, Mekki; Esquerré, Diane; Klopp, Christophe; Rocha, Dominique; Boichard, Didier

    2013-01-01

    The regular decrease of female fertility over time is a major concern in modern dairy cattle industry. Only half of this decrease is explained by indirect response to selection on milk production, suggesting the existence of other factors such as embryonic lethal genetic defects. Genomic regions harboring recessive deleterious mutations were detected in three dairy cattle breeds by identifying frequent haplotypes (>1%) showing a deficit in homozygotes among Illumina Bovine 50k Beadchip haplotyping data from the French genomic selection database (47,878 Holstein, 16,833 Montbéliarde, and 11,466 Normande animals). Thirty-four candidate haplotypes (pHH3 in Holstein breed were identified. Haplotype length varied from 1 to 4.8 Mb and frequencies from 1.7 up to 9%. A significant negative effect on calving rate, consistent in heifers and in lactating cows, was observed for 9 of these haplotypes in matings between carrier bulls and daughters of carrier sires, confirming their association with embryonic lethal mutations. Eight regions were further investigated using whole genome sequencing data from heterozygous bull carriers and control animals (45 animals in total). Six strong candidate causative mutations including polymorphisms previously reported in FANCI (Brachyspina), SLC35A3 (CVM), APAF1 (HH1) and three novel mutations with very damaging effect on the protein structure, according to SIFT and Polyphen-2, were detected in GART, SHBG and SLC37A2 genes. In conclusion, this study reveals a yet hidden consequence of the important inbreeding rate observed in intensively selected and specialized cattle breeds. Counter-selection of these mutations and management of matings will have positive consequences on female fertility in dairy cattle.

  3. Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2

    Science.gov (United States)

    Fritz, Sébastien; Capitan, Aurelien; Djari, Anis; Rodriguez, Sabrina C.; Barbat, Anne; Baur, Aurélia; Grohs, Cécile; Weiss, Bernard; Boussaha, Mekki; Esquerré, Diane; Klopp, Christophe; Rocha, Dominique; Boichard, Didier

    2013-01-01

    The regular decrease of female fertility over time is a major concern in modern dairy cattle industry. Only half of this decrease is explained by indirect response to selection on milk production, suggesting the existence of other factors such as embryonic lethal genetic defects. Genomic regions harboring recessive deleterious mutations were detected in three dairy cattle breeds by identifying frequent haplotypes (>1%) showing a deficit in homozygotes among Illumina Bovine 50k Beadchip haplotyping data from the French genomic selection database (47,878 Holstein, 16,833 Montbéliarde, and 11,466 Normande animals). Thirty-four candidate haplotypes (p<10−4) including previously reported regions associated with Brachyspina, CVM, HH1, and HH3 in Holstein breed were identified. Haplotype length varied from 1 to 4.8 Mb and frequencies from 1.7 up to 9%. A significant negative effect on calving rate, consistent in heifers and in lactating cows, was observed for 9 of these haplotypes in matings between carrier bulls and daughters of carrier sires, confirming their association with embryonic lethal mutations. Eight regions were further investigated using whole genome sequencing data from heterozygous bull carriers and control animals (45 animals in total). Six strong candidate causative mutations including polymorphisms previously reported in FANCI (Brachyspina), SLC35A3 (CVM), APAF1 (HH1) and three novel mutations with very damaging effect on the protein structure, according to SIFT and Polyphen-2, were detected in GART, SHBG and SLC37A2 genes. In conclusion, this study reveals a yet hidden consequence of the important inbreeding rate observed in intensively selected and specialized cattle breeds. Counter-selection of these mutations and management of matings will have positive consequences on female fertility in dairy cattle. PMID:23762392

  4. Early prenatal syphilis

    Directory of Open Access Journals (Sweden)

    Santosh Rathod

    2010-01-01

    Full Text Available Syphilis in pregnancy still remains a challenge despite the availability of adequate diagnostic tests for serological screening and penicillin therapy. We report a case of 2 month old female infant who presented with runny nose, papulosquamous lesions over both palms and soles and perianal erosions since 1 month after birth. Cutaneous examination revealed moist eroded areas in the perianal region and fine scaly lesions over palms and soles. Radiograph of both upper limbs and limbs revealed early periosteal changes in lower end of humerus and lower end of tibia. Diagnosis of early pre-natal syphilis was confirmed by Child′s Serum Rapid Plasma Reagin Antibody test [S.RPR] being positive with 1:64 dilution while that of mother was 1:8.

  5. Noninvasive detection of hepatic steatosis in patients without ultrasonographic evidence of fatty liver using the controlled attenuation parameter evaluated with transient elastography.

    Science.gov (United States)

    Yilmaz, Yusuf; Ergelen, Rabia; Akin, Hakan; Imeryuz, Nese

    2013-11-01

    Although ultrasound is a useful technique for detecting hepatic steatosis, it cannot provide a precise determination of hepatic fat content. A novel attenuation parameter named controlled attenuation parameter (CAP) has been developed to process the raw ultrasonic signals acquired by Fibroscan. The aim of this study was to determine the percentage of hepatic steatosis in apparently healthy Turkish individuals using the proposed diagnostic cut-off points for CAP. In addition, we sought to investigate the association of CAP with the traditional risk factors for nonalcoholic fatty liver disease in a screening setting. In the present study, 102 Turkish individuals without evidence of fatty liver on ultrasound and normal aminotransferase levels underwent CAP measurements by means of Fibroscan. The mean (SD), median (minimum-maximum), and 5th and 95th percentile values of CAP values in this cohort of 102 individuals were 206.99 (48.12), 210.5 (100.0-314.0), 113.4 and 280.2 dB/m, respectively. Using the cut-offs of 222, 238, and 283 dB/m for CAP, there were 39 (38.2%), 23 (22.5%), and five (4.9%) individuals out of 102 who had at least 10% steatosis despite normal liver findings on ultrasound. After allowance for potential confounders, CAP was independently associated with BMI (β=0.39, t=3.5, Phepatic steatosis on the basis of CAP assessment.

  6. Improved amplification efficiency on stool samples by addition of spermidine and its use for non-invasive detection of colorectal cancer

    KAUST Repository

    Roperch, Jean-Pierre

    2015-05-29

    Background Using quantitative methylation-specific PCR (QM-MSP) is a promising method for colorectal cancer (CRC) diagnosis from stool samples. Difficulty in eliminating PCR inhibitors of this body fluid has been extensively reported. Here, spermidine is presented as PCR facilitator for the detection of stool DNA methylation biomarkers using QM-MSP. We examined its effectiveness with NPY, PENK and WIF1, three biomarkers which we have previously shown to be of relevance to CRC. Results We determined an optimal window for the amplification of the albumin (Alb) gene (100 ng of bisulfite-treated stool DNA added of 1 mM spermidine) at which we report that spermidine acts as a PCR facilitator (AE = 1680%) for SG RT-PCR. We show that the amplification of methylated PENK, NPY and WIF1 is considerably facilitated by QM-MSP as measured by an increase of CMI (Cumulative Methylation Index, i.e. the sum of the three methylation values) by a factor of 1.5 to 23 fold in individual samples, and of 10 fold in a pool of five samples. Conclusions We contend that spermidine greatly reduces the problems of PCR inhibition in stool samples. This observed feature, after validation on a larger sampling, could be used in the development of stool-based CRC diagnosis tests.

  7. Non-invasive assessment of coronary calcification

    International Nuclear Information System (INIS)

    Vliegenthart, Rozemarijn; Oei, Hok-Hay S.; Hofman, Albert; Oudkerk, Matthijs; Witteman, Jackqueline C. M.

    2004-01-01

    Electron-beam tomography (EBT) and multi-detector computed tomography (MDCT) enable the noninvasive assessment of coronary calcification. The amount of coronary calcification, as detected by EBT, has a close relation with the amount of coronary atherosclerosis, which is the substrate for the occurrence of myocardial infarction and sudden cardiac death. Calcification of the coronary arteries can be seen as a cumulative measure of life-time exposure to cardiovascular risk factors. Several studies have shown that the amount of coronary calcification is associated with the risk of coronary heart disease. Therefore, coronary calcification is a promising method for non-invasive detection of asymptomatic subjects at high risk of developing coronary heart disease. Whether measurement of coronary calcification also increases the predictive power of coronary events based on cardiovascular risk factors is topic of current research

  8. Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformations: Evolution and Outcome

    Directory of Open Access Journals (Sweden)

    Wei-Shiu Chen

    2009-09-01

    Conclusion: The outcomes of the prenatally detected CCAMs were good in our cases. If the CCAM is not complicated by hydrops fetalis, maintaining the pregnancy with continuing management seems to be a reasonable recommendation. Despite antenatal resolution of CCAM on ultrasound, postnatal examination with chest radiography and computed tomography scan is necessary.

  9. Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis

    Science.gov (United States)

    Array CGH analysis has been shown to be highly accurate for rapid detection of chromosomal aneuploidies and submicroscopic deletions or duplications on fetal DNA samples in a clinical prenatal diagnostic setting. The objective of this study is to present our "post-validation phase" experience with ...

  10. Prenatal anxiety effects: A review.

    Science.gov (United States)

    Field, Tiffany

    2017-11-01

    This review is based on literature on prenatal anxiety effects that was found on Pubmed and PsycINFO for the years 2010-2016. Prenatal anxiety is thought to have distinct features, although it has been measured both by specific prenatal anxiety symptoms as well as by standardized anxiety scales. Its prevalence has ranged from 21 to 25% and it has been predicted by a number of pregnancy - related variables such as unintended pregnancy, demographic variables such as low acculturation and income and psychosocial factors including pessimism and partner tension. Prenatal anxiety effects on pregnancy include increased cortisol levels, pro-inflammatory cytokines, obstetric problems and cesarean section. Effects on the neonate include lower gestational age, prematurity, less insulin-like growth factor in cord blood, less exclusive breast-feeding and less self-regulation during the heelstick procedure. Prenatal anxiety effects continue into infancy and childhood both on physiological development and emotional/mental development. Among the physiological effects are lower vagal activity across the first two years, and lower immunity, more illnesses and reduced gray matter in childhood. Prenatal anxiety effects on emotional/mental development include greater negative emotionality and in infants, lower mental development scores and internalizing problems. Anxiety disorders occur during childhood and elevated cortisol and internalizing behaviors occur during adolescence. Interventions for prenatal anxiety are virtually nonexistent, although stroking (massaging) the infant has moderated the pregnancy - specific anxiety effects on internalizing behaviors in the offspring. The limitations of this literature include the homogeneity of samples, the frequent use of anxiety measures that are not specific to pregnancy, and the reliance on self-report. Nonetheless, the literature highlights the negative, long-term effects of prenatal anxiety and the need for screening and early

  11. Recent advances in the prenatal interrogation of the human fetal genome.

    Science.gov (United States)

    Hui, Lisa; Bianchi, Diana W

    2013-02-01

    The amount of genetic and genomic information obtainable from the human fetus during pregnancy is accelerating at an unprecedented rate. Two themes have dominated recent technological advances in prenatal diagnosis: interrogation of the fetal genome in increasingly high resolution and the development of non-invasive methods of fetal testing using cell-free DNA in maternal plasma. These two areas of advancement have now converged with several recent reports of non-invasive assessment of the entire fetal genome from maternal blood. However, technological progress is outpacing the ability of the healthcare providers and patients to incorporate these new tests into existing clinical care, and further complicates many of the economic and ethical dilemmas in prenatal diagnosis. This review summarizes recent work in this field and discusses the integration of these new technologies into the clinic and society. Copyright © 2012 Elsevier Ltd. All rights reserved.

  12. Intrauterine transfusion and non-invasive treatment options for hemolytic disease of the fetus and newborn - review on current management and outcome.

    Science.gov (United States)

    Zwiers, Carolien; van Kamp, Inge; Oepkes, Dick; Lopriore, Enrico

    2017-04-01

    Hemolytic disease of the fetus and newborn (HDFN) remains a serious pregnancy complication which can lead to severe fetal anemia, hydrops and perinatal death. Areas covered: This review focusses on the current prenatal management, treatment with intrauterine transfusion (IUT) and promising non-invasive treatment options for HDFN. Expert commentary: IUTs are the cornerstone in prenatal management of HDFN and have significantly improved perinatal outcome in the past decades. IUT is now a relatively safe procedure, however the risk of complications is still high when performed early in the second trimester. Non-invasive management using intravenous immunoglobulin may be a safe alternative and requires further investigation.

  13. Prenatal diagnosis and gonadal findings in X/XXX mosaicism.

    Science.gov (United States)

    Kohn, G; Cohen, M M; Beyth, Y; Ornoy, A

    1977-01-01

    Prenatal diagnosis of a case of X/XXX mosaicism is presented. In spite of the fact that over 50% of the cells cultured from both ovaries were trisomic for the X chromosome, fetal öocytes were rarely found. This case illustrates that the presence of a triple-X cell line, even in a relatively high percentage of ovarian cells, does not necessarily protect the ovary from 'aöogenesis'. This observation might prove useful in the counselling of future cases involving the prenatal detection of sex chromosome mosaicism. Images PMID:856232

  14. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  15. Hair cortisol concentration (HCC) as a measure for prenatal psychological distress - A systematic review.

    Science.gov (United States)

    Mustonen, Paula; Karlsson, Linnea; Scheinin, Noora M; Kortesluoma, Susanna; Coimbra, Bárbara; Rodrigues, Ana João; Karlsson, Hasse

    2018-06-01

    Prenatal environment reportedly affects the programming of developmental trajectories in offspring and the modification of risks for later morbidity. Among the increasingly studied prenatal exposures are maternal psychological distress (PD) and altered maternal hypothalamus-pituitary-adrenal (HPA) axis functioning. Both prenatal PD and maternal short-term cortisol concentrations as markers for HPA axis activity have been linked to adverse child outcomes and it has been assumed that maternal PD affects the offspring partially via altered cortisol secretion patterns. Yet, the existing literature on the interrelations between these two measures is conflicting. The assessment of cortisol levels by using hair cortisol concentration (HCC) has gained interest, as it offers a way to assess long-term cortisol levels with a single non-invasive sampling. According to our review, 6 studies assessing the associations between maternal HCC during pregnancy and various types of maternal PD have been published so far. Measures of prenatal PD range from maternal symptoms of depression or anxiety to stress related to person's life situation or pregnancy. The aim of this systematic review is to critically evaluate the potential of HCC as a biomarker for maternal PD during pregnancy. We conclude that HCC appears to be inconsistently associated with self-reported symptoms of prenatal PD, especially in the range of mild to moderate symptom levels. Self-reports on PD usually cover short time periods and they seem to depict partly different phenomena than HCC. Thus, methodological aspects are in a key role in future studies evaluating the interconnections across different types of prenatal PD and maternal HPA axis functioning. Further, studies including repetitive measurements of both HCC and PD during the prenatal period are needed, as timing of the assessments is one important source of variation among current studies. The significance of prenatal HCC in the context of offspring outcomes

  16. Noninvasive assessment of coronary stenoses by myocardial imaging during pharmacologic coronary vasodilation. VI. Detection of coronary artery disease in human beings with intravenous N-13 ammonia and positron computed tomography

    International Nuclear Information System (INIS)

    Schelbert, H.R.; Wisenberg, G.; Phelps, M.E.; Gould, K.L.; Henze, E.; Hoffman, E.J.; Gomes, A.; Kuhl, D.E.

    1982-01-01

    The possibility of detecting mild coronary stenoses with positron computed tomography and nitrogen (N-13) ammonia administered during pharmacologic coronary vasodilation was previously demonstrated in chronically instrumented dogs. The feasibility of using this technique in human beings and its sensitivity in determining the degree and extent of coronary artery disease were examined in 13 young normal healthy volunteers and 32 patients with angiographically documented coronary artery disease. N-13 ammonia was administered intravenously and its distribution in the left ventricular myocardium recorded at rest and during dipyridamole-induced coronary hyperemia. In the 13 volunteers, N-13 activity was homogeneous at rest and during hyperemia, whereas 31 of the 32 patients had regional defects on the hyperemic images not present during rest. All six patients with double, all 10 with triple and 15 of 16 patients with single vessel disease (97 percent) were correctly identified with the technique. Two vessel involvement was correctly identified in five of the six patients with double vessel disease and three vessel disease in six of 10 patients. Of all 58 coronary stenoses, 52 (90 percent) were correctly identified. In a subgroup of 11 patients, the technique was compared with exercise thallium-201 planar images, which were abnormal in 10 (91 percent) whereas N-13 images were abnormal in all 11. Of the 19 stenosed coronary arteries in this subgroup, 11 (58 percent) were correctly identified with thallium-201 and 17 (89 percent) with tomography (p less than 0.01). It is concluded that cross-sectional imaging of the myocardial distribution of N-13 ammonia administered during pharmacologic coronary vasodilation is a highly sensitive and accurate means for noninvasive detection of coronary stenoses in human beings and for estimating the extent of coronary artery disease

  17. Beyond easy answers: prenatal diagnosis and counseling during pregnancy.

    Science.gov (United States)

    Strauss, Ronald P

    2002-03-01

    The advancing sophistication and availability of prenatal diagnostic technologies, such as transvaginal ultrasound, chorionic villus sampling, amniocentesis, and alpha feto-protein testing, have increased the medical capacity to detect genetic and congenital conditions during pregnancy. This paper raises many social and ethical questions about how families, craniofacial teams, and society respond when a prenatal diagnosis is made and considers the ethical and social issues around counseling, managing information, and making decisions. Ethical and sociological analysis. Implications examined on the societal, health professional, and family level. Families and health professionals often manage ambiguity, uncertainty, and complex decision making in facing a prenatal diagnosis. Embedded in parental and clinical decisions are values about children with birth defects. Families are making decisions about whether to bear or abort an affected fetus on the basis of their perceptions of the impairment and on their expectation of the burden involved for the family and the child. On a broader, societal level, pressures to conform and minimize human differences are apparent in biomedical interventions, the Human Genome Project, advertising and media images, and social pressures to normalize disabilities. How society deals with prenatal diagnosis will impact upon social values; moral, legal, and ethical perspectives; and on health policy. Prenatal diagnostic technologies raise complex ethical, family, policy, and legal issues that have broad implications for the lives of children born with special health care needs, including children with cleft lip and palate.

  18. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  19. Brain fibronectin expression in prenatally irradiated mice

    International Nuclear Information System (INIS)

    Meznarich, H.K.; McCoy, L.S.; Bale, T.L.; Stiegler, G.L.; Sikov, M.R.

    1993-01-01

    Activation of gene transcription by radiation has been recently demonstrated in vivo. However, little is known on the specificity of these alterations on gene transcription. Prenatal irradiation is a known teratogen that affects the developing mammalian central nervous system (CNS). Altered neuronal migration has been suggested as a mechanism for abnormal development of prenatally irradiated brains. Fibronectin (FN), an extracellular glycoprotein, is essential for neural crest cell migration and neural cell growth. In addition, elevated levels of FN have been found in the extracellular matrix of irradiated lung. To test whether brain FN is affected by radiation, either FN level in insoluble matrix fraction or expression of FN mRNA was examined pre- and postnatally after irradiation. Mice (CD1), at 13 d of gestation (DG), served either as controls or were irradiated with 14 DG, 17 DG, or 5,6, or 14 d postnatal. Brain and liver were collected from offspring and analyzed for either total FN protein levels or relative mRNAs for FN and tubulin. Results of prenatal irradiation on reduction of postnatal brain weight relative to whole are comparable to that reported by others. Insoluble matrix fraction (IMF) per gram of brain, liver, lung, and heart weight was not significantly different either between control and irradiated groups or between postnatal stages, suggesting that radiation did not affect the IMF. However, total amounts of FN in brain IMF at 17 DG were significantly different (p < .02) between normal (1.66 ± 0.80 μg) and irradiated brains (0.58 ± 0.22 μg). FN mRNA was detectable at 13, 14, and 17 DG, but was not detectable at 6 and 14 d postnatal, indicating that FN mRNA is developmentally regulated. 41 refs., 4 figs., 3 tabs

  20. Noninvasive detection and mapping of intraabdominal adhesions

    DEFF Research Database (Denmark)

    Zinther, Nellie Bering; Fedder, Jens; Friis-Andersen, Hans

    2010-01-01

    BACKGROUND: Adhesions are a well-known and very common complication to surgery. Their extent and severity varies according to type and number of surgeries, use of intraabdominal mesh, and presence of peritonitis. Adhesions cause increased morbidity and mortality, with subsequent socioeconomic con...

  1. Prenatal care in your second trimester

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000557.htm Prenatal care in your second trimester To use the sharing ... Gregory KD, Ramos DE, Jauniaux ERM. Preconception and prenatal care. In: Gabbe SG, Niebyl JR, Simpson JL, et ...

  2. Prenatal care in your third trimester

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000558.htm Prenatal care in your third trimester To use the sharing ... Gregory KD, Ramos DE, Jauniaux ERM. Preconception and prenatal care. In: Gabbe SG, Niebyl JR, Simpson JL, et ...

  3. Prenatal exposure to anticonvulsants and psychosexual development

    NARCIS (Netherlands)

    Dessens, A. B.; Cohen-Kettenis, P. T.; Mellenbergh, G. J.; vd Poll, N.; Koppe, J. G.; Boer, K.

    1999-01-01

    Animal studies have shown that prenatal exposure to the anticonvulsant drugs phenobarbital and phenytoin alters steroid hormone levels which consequently leads to disturbed sexual differentiation. In this study, possible sequelae of prenatal exposure to these anticonvulsants on gender development in

  4. Prenatal Testing: MedlinePlus Health Topic

    Science.gov (United States)

    ... Dept. of Health and Human Services Office on Women's Health Start Here Prenatal Tests (Nemours Foundation) Also in Spanish Prenatal Tests (March of Dimes Birth Defects Foundation) Also in Spanish ...

  5. Neurodevelopmental Outcomes of Prenatal Stress

    Directory of Open Access Journals (Sweden)

    M. Genco Usta

    2012-03-01

    Full Text Available The influence of prenatal stress on psychopathology has been observed in many animal and human studies. In many studies, stress during prenatal period has been shown to result in negative feedback dysregulation and hyperactivity of hypothalamo-pituitary-adrenocortical axis. Prenatal stres also may cause increased risk of birth complications, startle or distress in response to novel and surprising stimuli during infancy; lower Full Scale IQs, language abilities and attention deficiency in period of 3-5 years; increased risk of attention deficit hyperactivity syndrome, anxiety symptoms, depressive disorder and impulsivity during adolescence. Additionally, timing of prenatal stress is also important and 12-22 weeks of gestation seems to be the most vulnerable period. The results underline the need for early prevention and intervention programs for highly anxious women during pregnancy. Administration of prenatal stress monitoring to public health programs or removing pregnant women who have been exposed to life events such as natural disaster, terror attack to secure areas that provide basic needs may be crucial.

  6. Prenatal detection of a Wilms` tumor

    Energy Technology Data Exchange (ETDEWEB)

    Applegate, K.E.; Ghei, M. [Department of Radiology, Cleveland Clinic Foundation and Children`s Hospital, OH (United States); Perez-Atayde, A.R. [Department of Pathology, Children`s Hospital, Boston, MA (United States); *

    1999-01-01

    Kidney tumors occur very rarely in utero but when present, they are most often congenital mesoblastic nephroma. A newborn boy was transferred to our hospital with a history of fetal renal mass which proved to be a Wilms` tumor. The clinical history, imaging results, and differential diagnosis are presented with a discussion of neonatal Wilms` tumor. While imaging may not specify the exact diagnosis, it provides staging and anatomic information for the surgeon and the oncologist. (orig.) With 4 figs., 6 refs.

  7. Prenatal stressors in rodents: Effects on behavior

    Directory of Open Access Journals (Sweden)

    Marta Weinstock

    2017-02-01

    Full Text Available The current review focuses on studies in rodents published since 2008 and explores possible reasons for any differences they report in the effects of gestational stress on various types of behavior in the offspring. An abundance of experimental data shows that different maternal stressors in rodents can replicate some of the abnormalities in offspring behavior observed in humans. These include, anxiety, in juvenile and adult rats and mice, assessed in the elevated plus maze and open field tests and depression, detected in the forced swim and sucrose-preference tests. Deficits were reported in social interaction that is suggestive of pathology associated with schizophrenia, and in spatial learning and memory in adult rats in the Morris water maze test, but in most studies only males were tested. There were too few studies on the novel object recognition test at different inter-trial intervals to enable a conclusion about the effect of prenatal stress and whether any deficits are more prevalent in males. Among hippocampal glutamate receptors, NR2B was the only subtype consistently reduced in association with learning deficits. However, like in humans with schizophrenia and depression, prenatal stress lowered hippocampal levels of BDNF, which were closely correlated with decreases in hippocampal long-term potentiation. In mice, down-regulation of BDNF appeared to occur through the action of gene-methylating enzymes that are already increased above controls in prenatally-stressed neonates. In conclusion, the data obtained so far from experiments in rodents lend support to a physiological basis for the neurodevelopmental hypothesis of schizophrenia and depression.

  8. Prenatal diagnostic decision-making in adolescents.

    Science.gov (United States)

    Plaga, Stacey L; Demarco, Kristin; Shulman, Lee P

    2005-04-01

    We sought to evaluate the prenatal decision-making of pregnant adolescents identified at increased risk for identifiable fetal genetic abnormalities. A retrospective review of records of gravid women 19 years old or younger undergoing genetic counseling from 2001-2003 (inclusive) was undertaken. Hospital-based academic center. Thirty-seven women were identified; four cases did not meet inclusion criteria. None. Decision to undergo or forgo invasive prenatal testing. Of the 33 women included in this study, the average age was 17.6 years (range: 15-19). Eighteen were Latinas, eight were African-Americans, and seven were Caucasians. Sixteen women had positive maternal serum screening outcomes; nine women sought counseling because of personal/family histories of genetic abnormalities, seven sought counseling after fetal structural anomalies were detected by ultrasound, and one woman sought counseling because she and her partner were positive for Mendelian disorder screening (sickle cell disease). Sixteen of the women (48.5%) chose to undergo invasive testing (15 amniocenteses, one chorionic villus sampling) whereas 17 (51.5%) chose to forgo invasive testing. Adolescents offered invasive prenatal diagnosis will chose to undergo or forgo such testing based on diagnostic and personal criteria as do adult women. Nonetheless, unique adolescent issues may make the process by which information is obtained and communicated during counseling to be different from counseling provided to adults. The development of new genetic screening and diagnostic protocols has and will increase the number of pregnant adolescent women who will be offered genetic counseling during their pregnancies. Such an increase in numbers will place considerably more pressure on an already taxed genetic counseling system; accordingly, new counseling paradigms will need to be developed to provide service to an expanded patient population seeking information for an increasing number of genetic issues.

  9. Causes and outcome of prenatally diagnosed hydronephrosis

    Directory of Open Access Journals (Sweden)

    Ahmadzadeh Ali

    2009-01-01

    Full Text Available Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S. Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD in transverse plane: mild (6-9.9 mm, moderate (10-14.9 mm and severe (> 15 mm hydronephrosis. Voiding cystourethrography (VCUG was obtained in all of the patients to rule out vesicoureteral reflux (VUR. In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO. Twenty two cases (32.8% had mild, 20 (29.9% had moderate, and 25 (37.3% had severe hydronephrosis. The causes of hydroneph-rosis were VUR (40.2%, UPJO (32.8%, posterior urethral valves (PUVs (13.4 %, and transient hydronephrosis (13.4 %. The lesion was obstructive in 37 (55.2% infants. Totally, 33 (49.2% patients with hydronephrosis (9 mild, 9 moderate, and 15 severe subsequently developed com-plications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4% patients. We conclude that every newborn with any degree of hydro-nephrosis should be assessed postnatally for specific diagnosis and treatment.

  10. Causes and outcome of prenatally diagnosed hydronephrosis

    International Nuclear Information System (INIS)

    Ahmadzadeh, Ali; Tahmasebi, Morteza; Gharibvand, Mohammad Momen

    2009-01-01

    Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S). Hydronephrosis may be obstructive or nonobstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males) newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD) in transverse plane: mild (6-9.9 mm), moderate (10-14.9 mm) and severe (> 15 mm) hydronephrosis. Voiding cystourethrography (VCUG) was obtained in all of the patients to rule out vesicoureteral reflux (VUR). In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA) scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO). Twenty two cases (32.8%) had mild, 20 (29.9%) had moderate, and 25 (37.3%) had severe hydronephrosis. The causes of hydronephrosis were VUR (40.2%), UPJO (32.8%), posterior urethral valves (PUVs) (13.4 %), and transient hydronephrosis (13.4 %). The lesion was obstructive in 37 (55.2%) infants. Totally, 33 (49.2%) patients with hydronephrosis (9 mild, 9 moderate, and 15 severe) subsequently developed complications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4%) patients. We conclude that every newborn with any degree of hydronephrosis should be assessed postnatally for specific diagnosis and treatment. (author)

  11. Audit of prenatal and postnatal diagnosis of isolated open spina bifida in three university hospitals in The Netherlands

    NARCIS (Netherlands)

    Olde Scholtenhuis, M. A. G.; Cohen-Overbeek, T. E.; Offringa, M.; Barth, P. G.; Stoutenbeek, Ph; Gooskens, R. H.; Wladimiroff, J. W.; Bilardo, C. M.

    2003-01-01

    Objective To audit the current Dutch policy of prenatal detection of isolated open spina bifida based on offering detailed ultrasound examination only on indication. Methods A retrospective analysis of prenatally diagnosed isolated spina bifida cases and of newborns diagnosed with this condition was

  12. Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.

    NARCIS (Netherlands)

    Ettema, A.M.; Wenghoefer, M.; Hansmann, M.; Carels, C.E.L.; Borstlap, W.A.; Berge, S.J.

    2010-01-01

    OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with

  13. Noninvasive Ventilation in Premature Neonates.

    Science.gov (United States)

    Flanagan, Keri Ann

    2016-04-01

    The use of noninvasive ventilation is a constantly evolving treatment option for respiratory disease in the premature infant. The goals of these noninvasive ventilation techniques are to improve gas exchange in the premature infant's lungs and to minimize the need for intubation and invasive mechanical ventilation. The goals of this article are to consider various uses of nasal interfaces, discuss skin care and developmental positioning concerns faced by the bedside nurse, and discuss the medical management aimed to reduce morbidity and mortality. This article explores the nursing role, the advances in medical strategies for noninvasive ventilation, and the team approach to noninvasive ventilation use in this population. Search strategy included a literature review on medical databases, such as EBSCOhost, CINAHL, PubMed, and NeoReviews. Innovative products, nursing research on developmental positioning and skin care, and advanced medical management have led to better and safer outcomes for premature infants requiring noninvasive ventilation. The medical focus of avoiding long-term mechanical ventilation would not be possible without the technology to provide noninvasive ventilation to these premature infants and the watchful eye of the nurse in terms of careful positioning, preventing skin breakdown and facial scarring, and a proper seal to maximize ventilation accuracy. This article encourages nursing-based research to quantify some of the knowledge about skin care and positioning as well as research into most appropriate uses for noninvasive ventilation devices.

  14. Prenatal Care: New Hampshire Residents - 1976.

    Science.gov (United States)

    Mires, Maynard H.; Sirc, Charles E.

    Data from 1976 New Hampshire birth certificates were used to examine the correlations between the degree (month of pregnancy that prenatal care began) and intensity (number of prenatal visits) of prenatal care and low infant birth weight, illegitimacy, maternal age, maternal education, and complications of pregnancy. The rate of low birth weight…

  15. Congenital lung malformations: correlation between prenatal and ...

    African Journals Online (AJOL)

    Aim: Congenital lung malformations are a common finding during prenatal ultrasonography (US). Investigations were completed by means of prenatal MRI and postnatal computed tomographic (CT) scan. The purpose of this study was to compare these prenatal findings with postnatal findings and pathological findings after ...

  16. Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.

    Directory of Open Access Journals (Sweden)

    Gorazd Rudolf

    Full Text Available To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21 on the prevalence of T21 in Slovenia.Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated.The primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia.Despite a significantly increased mean maternal age from 25.4 years in year 1981 to 30.3 years in year 2012 the prevalence of newborn infants with T21 was 0.51 per 1000 births compared to 0.55 per 1000 births, respectively. The prevalence of prenatally diagnosed cases increased from 0.03 per 1000 births to 2.06 per 1000. The detection rate of T21 in year 2012 was 78,9%. The total number of prenatal invasive procedures (chorionic villous sampling and amniocenteses carried out during that period was rising until 2002, since when it is stable at around 7%.The advancement and implementation of screening tests and prenatal diagnostic procedures in Slovenia caused an important improvement in the efficiency of the prenatal detection of T21.

  17. Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.

    Science.gov (United States)

    Rudolf, Gorazd; Tul, Nataša; Verdenik, Ivan; Volk, Marija; Brezigar, Anamarija; Kokalj Vokač, Nadja; Jeršin, Nataša; Prosenc, Bernarda; Premru Sršen, Tanja; Peterlin, Borut

    2017-01-01

    To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia. Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated. The primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia. Despite a significantly increased mean maternal age from 25.4 years in year 1981 to 30.3 years in year 2012 the prevalence of newborn infants with T21 was 0.51 per 1000 births compared to 0.55 per 1000 births, respectively. The prevalence of prenatally diagnosed cases increased from 0.03 per 1000 births to 2.06 per 1000. The detection rate of T21 in year 2012 was 78,9%. The total number of prenatal invasive procedures (chorionic villous sampling and amniocenteses) carried out during that period was rising until 2002, since when it is stable at around 7%. The advancement and implementation of screening tests and prenatal diagnostic procedures in Slovenia caused an important improvement in the efficiency of the prenatal detection of T21.

  18. Prenatal meditation influences infant behaviors.

    Science.gov (United States)

    Chan, Ka Po

    2014-11-01

    Meditation is important in facilitating health. Pregnancy health has been shown to have significant consequences for infant behaviors. In view of limited studies on meditation and infant temperament, this study aims to explore the effects of prenatal meditation on these aspects. The conceptual framework was based on the postulation of positive relationships between prenatal meditation and infant health. A randomized control quantitative study was carried out at Obstetric Unit, Queen Elizabeth Hospital in Hong Kong. 64 pregnant Chinese women were recruited for intervention and 59 were for control. Outcome measures were cord blood cortisol, infant salivary cortisol, and Carey Infant Temperament Questionnaire. Cord blood cortisol level of babies was higher in the intervention group (pmeditation can influence fetal health. Carey Infant Temperament Questionnaire showed that the infants of intervention group have better temperament (pmeditation in relation to child health. Present study concludes the positive effects of prenatal meditation on infant behaviors and recommends that pregnancy care providers should provide prenatal meditation to pregnant women. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  19. What Happens during Prenatal Visits?

    Science.gov (United States)

    ... smoke, drink, or take drugs, and whether you exercise regularly. Ask about your stress level. Perform prenatal blood tests to do the ... increased risk of health problems during pregnancy? Will stress during pregnancy affect my ... minerals linked to problem with ovulation Release: Elevated blood pressure before pregnancy may increase chance ...

  20. Prenatal diagnosis of fetal omphalocele by ultrasound: A comparison of two centuries

    OpenAIRE

    Yu-Ling Liang; Lin Kang; Pei-Ying Tsai; Yueh-Chin Cheng; Huei-Chen Ko; Chiung-Hsin Chang; Fong-Ming Chang

    2013-01-01

    An omphalocele, a fetal abdominal defect, is a very important congenital anomaly. Prenatal diagnosis of fetal omphalocele is crucial to clinical management. Objective: To investigate the accuracy of prenatal diagnosis for fetal omphalocele, we undertook a retrospective and consecutive analysis of our ultrasound database between January 1994 and December 2011. Materials and Methods: In total, ultrasound (US) detected 52 fetuses with an omphalocele in utero. Results: The incidence of f...

  1. Prenatal Diagnosis of Congenital Cytomegalovirus Infection

    Science.gov (United States)

    Lazzarotto, T.; Guerra, B.; Spezzacatena, P.; Varani, S.; Gabrielli, L.; Pradelli, P.; Rumpianesi, F.; Banzi, C.; Bovicelli, L.; Landini, M. P.

    1998-01-01

    We report here the results of a study on the prenatal diagnosis of congenital cytomegalovirus (CMV) infection. The study was carried out by both PCR and virus isolation from amniotic fluid (AF) for 82 pregnant women at risk of transmitting CMV for the detection of (i) seroconversion to CMV immunoglobulin G (IgG) positivity during the first trimester of pregnancy, (ii) symptomatic CMV infection in the mother during the first trimester of pregnancy or intrauterine growth retardation detected by ultrasound or abnormal ultrasonographic findings suggestive of fetal infections, and (iii) seropositivity for CMV-specific IgM. For 50 women, fetal blood (FB) was also obtained and tests for antigenemia and PCR were performed. The results indicate that AF is better than FB for the prenatal diagnosis of CMV infection. PCR with AF has a sensitivity (SNS) of 100%, a specificity (SPE) of 83.3%, a positive predictive value (PPV) of 40%, and a negative predictive value (NPV) of 100%; rapid virus isolation with the same material has an SNS of 50%, an SPE of 100%, a PPV of 100%, and an NPV of 94.7%. Fewer than 10% of the women positive for IgM by enzyme immunoassay (EIA) had a congenitally infected fetus or newborn infant. When EIA IgM positivity was confirmed by Western blotting (WB) and the WB profile was considered, the percent transmission detected among women with an “at-risk” profile was higher than that observed among IgM-positive women and was the same as that among women who seroconverted during the first trimester of pregnancy (transmission rates of 29 and 25%, respectively). PMID:9817869

  2. Developmental aspects of anandamide: ontogeny of response and prenatal exposure.

    Science.gov (United States)

    Fride, E; Mechoulam, R

    1996-02-01

    Recent breakthroughs in cannabinoid research, including the identification of two cannabinoid receptors (CB receptors) and a family of endogenous ligands, the anandamides, may shed new light on the sequelae of pre- and perinatal exposure to cannabinoid receptor ligands and enable the experimental manipulation of the endogenous ligand in the developing organism. In the present study we examined the behavioural response to anandamide (ANA) in developing mice from day 13 into adulthood. We observed that depression of ambulation in an open field and the analgetic response to ANA are not fully developed until adulthood. In a separate set of experiments, we administered five daily injections of ANA (SC, 20 mg/kg) during the last trimester of pregnancy. No effects on birth weight, litter size, sex ratio and eye opening were detected after maternal ANA treatment. Further, no effects on open field performance of the offspring were observed until 4 weeks of age. However, from 40 days of age, a number of differences between the prenatal ANA and control offspring were detected. Thus, the offspring from ANA-treated dams showed impaired responsiveness to a challenge with ANA or delta 0-THC expressed as a lack of immobility in the ring test for catalepsy, hypothermia and analgesia. On the other hand, without challenge, they exhibited a spontaneous decrease in open field activity, catalepsy, hypothermia and a hypoalgetic tendency. These data suggest that exposure to excessive amounts of ANA during gestation alters the functioning of the ANA-CB receptor system. Further experiments investigating responsivity of the immune system suggest an increased inflammatory response to arachidonic acid, and enhanced hypothermic response to lipopolysaccharide in prenatally treated offspring. The results are discussed in relation to other manipulations of the maternal milieu, especially prenatal stress. It is concluded that alterations induced by prenatal exposure to ANA, cannabinoids and other

  3. Prenatal Diagnosis of Sirenomelia

    OpenAIRE

    Aykut Özek; Mert Turğal; Özgür Özyüncü; Sinan Beksaç

    2016-01-01

    Sirenomelia is a rare and lethal congenital malformation. It is associated with a variety of anomalies and oligo/anhydramniosis. We present a case of sirenomelia detected in early second trimester presenting with anhydramniosis.

  4. Prenatal Diagnosis of Sirenomelia

    Directory of Open Access Journals (Sweden)

    Aykut Özek

    2016-05-01

    Full Text Available Sirenomelia is a rare and lethal congenital malformation. It is associated with a variety of anomalies and oligo/anhydramniosis. We present a case of sirenomelia detected in early second trimester presenting with anhydramniosis.

  5. Non-invasive inspection

    International Nuclear Information System (INIS)

    Stewart, P.A.E.; Skelton, R.T.; Allen, M.J.; Douglas, J.

    1990-01-01

    Residual core material can be detected inside hollow cast articles such as turbine blades using positron emission tomography (PET). Positron radio-isotope material is inducted into any residual core material present by immersing a cast article in an aqueous solution of radio-isotope emitter, for example gallium. Absorbed gallium subsequently emits positrons which are annihilated in collisions with electrons emitting two 511 KeV gamma rays in diametrically opposite directions. The coincident emissions are detected and tracked by a PET camera and the resulting images correlated with a sectioned image of the article as a check on the location of detected core material. Initially a low-dose-rate solution for the purpose of merely establishing the presence of core material is used but a second optional process step introduces a more active solution allowing a PET camera to collect sufficient data to image absorbed isotope. (author)

  6. The effect of external irradiation on the prenatal development

    International Nuclear Information System (INIS)

    Goerttler, K.

    1982-01-01

    Concerning the effect of external irradiation on prenatal development the pathologist must either admit that the number of observed developmental disorders produced by low doses is very small or he must confess that his methods for detecting such lesions are not sufficiently sophisticated. The author prefers the second alternative and tries to verify this viewpoint. Section I concerns the behaviour of the treated organism following an injury. In the author's opinion the course of such prenatal damage is not taken sufficiently into consideration today. Section II should explain the biological basis of sensitivity to injury. We have to consider the use of different parameters for each existent damage. Section III should point out the development of formal deviations from early development stages. This will be exemplified on irradiated chicken embryos. Comparable abnormal developmental steps also occur in human embryos. Section IV concerns the appearance of secondary effect as the result of prenatal disorders. These disorders have been taken only little or not at all into consideration until now. We have to recognize its importance in regard to prenatal irradiation. (orig./MG)

  7. Roles of MicroRNA across Prenatal and Postnatal Periods

    Directory of Open Access Journals (Sweden)

    Ilaria Floris

    2016-11-01

    Full Text Available Communication between mother and offspring in mammals starts at implantation via the maternal–placental–fetal axis, and continues postpartum via milk targeted to the intestinal mucosa. MicroRNAs (miRNAs, short, noncoding single-stranded RNAs, of about 22 nucleotides in length, are actively involved in many developmental and physiological processes. Here we highlight the role of miRNA in the dynamic signaling that guides infant development, starting from implantation of conceptus and persisting through the prenatal and postnatal periods. miRNAs in body fluids, particularly in amniotic fluid, umbilical cord blood, and breast milk may offer new opportunities to investigate physiological and/or pathological molecular mechanisms that portend to open novel research avenues for the identification of noninvasive biomarkers.

  8. Fatal tumors: prenatal ultrasonographic findings and clinical characteristics

    International Nuclear Information System (INIS)

    Cho, Jeong Yeon; Lee, Young Ho

    2014-01-01

    The incidence of fetal tumors has been increased due to generalization of prenatal evaluation and improvement of imaging techniques. The early detection of a fetal tumor and understanding of its imaging features are very important for fetal, maternal, and neonatal care. Ultrasonography is usually used for the detection and differential diagnosis of fetal tumors, and magnetic resonance imaging is increasingly being used as a complementary study. Many fetal tumors have different clinical and imaging features compared with pediatric tumors. Although several fetal tumors may mimic other common anomalies, some specific imaging features may carry early accurate diagnosis of fetal tumors, which may alter the prenatal management of a pregnancy and the mode of delivery, and facilitate immediate postnatal treatment.

  9. Fatal tumors: prenatal ultrasonographic findings and clinical characteristics

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Jeong Yeon [Dept. of Radiology, Seoul National University College of Medicine, Seoul (Korea, Republic of); Lee, Young Ho [Dept. of Radiology, Cheil General Hospital and Women' s Healthcare Center, Kwandong University College of Medicine, Seoul (Korea, Republic of)

    2014-12-15

    The incidence of fetal tumors has been increased due to generalization of prenatal evaluation and improvement of imaging techniques. The early detection of a fetal tumor and understanding of its imaging features are very important for fetal, maternal, and neonatal care. Ultrasonography is usually used for the detection and differential diagnosis of fetal tumors, and magnetic resonance imaging is increasingly being used as a complementary study. Many fetal tumors have different clinical and imaging features compared with pediatric tumors. Although several fetal tumors may mimic other common anomalies, some specific imaging features may carry early accurate diagnosis of fetal tumors, which may alter the prenatal management of a pregnancy and the mode of delivery, and facilitate immediate postnatal treatment.

  10. No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.

    Science.gov (United States)

    Audibert, Francois; De Bie, Isabelle; Johnson, Jo-Ann; Okun, Nanette; Wilson, R Douglas; Armour, Christine; Chitayat, David; Kim, Raymond

    2017-09-01

    To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening. Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists. All pregnant women receiving counselling and providing informed consent for prenatal screening. Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to March 2016 using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, non-invasive prenatal screening) and key words (prenatal screening, prenatal genetic counselling). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1985 to May 2016. Searches were updated on a regular basis and incorporated in the guideline. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical speciality societies. Evidence will be reviewed 5 years after publication to determine whether all or part of the guideline should be updated. However, if important new evidence is published prior to the 5-year cycle, the review process may be accelerated for a more rapid update of some recommendations. Copyright © 2017 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  11. Recommendations for the use of microarrays in prenatal diagnosis.

    Science.gov (United States)

    Suela, Javier; López-Expósito, Isabel; Querejeta, María Eugenia; Martorell, Rosa; Cuatrecasas, Esther; Armengol, Lluis; Antolín, Eugenia; Domínguez Garrido, Elena; Trujillo-Tiebas, María José; Rosell, Jordi; García Planells, Javier; Cigudosa, Juan Cruz

    2017-04-07

    Microarray technology, recently implemented in international prenatal diagnosis systems, has become one of the main techniques in this field in terms of detection rate and objectivity of the results. This guideline attempts to provide background information on this technology, including technical and diagnostic aspects to be considered. Specifically, this guideline defines: the different prenatal sample types to be used, as well as their characteristics (chorionic villi samples, amniotic fluid, fetal cord blood or miscarriage tissue material); variant reporting policies (including variants of uncertain significance) to be considered in informed consents and prenatal microarray reports; microarray limitations inherent to the technique and which must be taken into account when recommending microarray testing for diagnosis; a detailed clinical algorithm recommending the use of microarray testing and its introduction into routine clinical practice within the context of other genetic tests, including pregnancies in families with a genetic history or specific syndrome suspicion, first trimester increased nuchal translucency or second trimester heart malformation and ultrasound findings not related to a known or specific syndrome. This guideline has been coordinated by the Spanish Association for Prenatal Diagnosis (AEDP, «Asociación Española de Diagnóstico Prenatal»), the Spanish Human Genetics Association (AEGH, «Asociación Española de Genética Humana») and the Spanish Society of Clinical Genetics and Dysmorphology (SEGCyD, «Sociedad Española de Genética Clínica y Dismorfología»). Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  12. Prenatal Screening Using Maternal Markers

    Directory of Open Access Journals (Sweden)

    Howard Cuckle

    2014-05-01

    Full Text Available Maternal markers are widely used to screen for fetal neural tube defects (NTDs, chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening.

  13. Prenatal Diagnosis of Osteogenesis Imperfecta

    Directory of Open Access Journals (Sweden)

    Özgür Özyüncü

    2010-04-01

    Full Text Available Skeletal dysplasias are a group of diseases with a wide spectrum related to bone and cartilage. Some forms are lethal whereas some forms have milder clinical progression. Prenatal diagnosis of skeletal dysplasias may be possible especially when there is an index case in the family. Ultrasonography plays the central role in prenatal diagnosis and most common sonographic features are angulation of long bones, bending of femur or bowing signin the long bones. We present a case whose follow up for fetal short extremities ended with termination of pregnancy. The differential diagnosis is hard and depend especially on the fetal x-ray. Final diagnosis was lethal type osteogenesis imperfecta.

  14. Radioimmunoassays in prenatal genetic diagnosis

    International Nuclear Information System (INIS)

    Santavy, J.; Janouskova, M.; Fingerova, H.; Krikal, Z.

    1981-01-01

    Prenatal medicine strives to reveal hereditary disorders and congenital malformations before delivery. The application of RIA significantly widened the spectrum of available diagnostic possibilities. We first focused our attention on determining alpha-1-fetoprotein in the amniotic fluid and the serum. We used the results of 33 examinations of the amniotic fluid and 100 samples of the blood serum to compile a graph of physiological values during pregnancy. The graph is used in assessing clinical samples in suspect congenital disorders of neural tube closure and other malformations. In the last two years we have tested testosterone determination in the amniotic fluid to ascertain prenatally the fetal sex in early pregnancy. The results were satisfactory and agreed in 70.6%. (author)

  15. Ovarian cysts on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Ursula; Nemec, Stefan F.; Bettelheim, Dieter; Brugger, Peter C.; Horcher, Ernst; Schöpf, Veronika; Graham, John M.; Rimoin, David L.; Weber, Michael; Prayer, Daniela

    2012-01-01

    Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23–37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

  16. Ovarian cysts on prenatal MRI

    Energy Technology Data Exchange (ETDEWEB)

    Nemec, Ursula [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Nemec, Stefan F., E-mail: stefan.nemec@meduniwien.ac.at [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Bettelheim, Dieter [Department of Obstetrics and Gynaecology, Division of Prenatal Diagnosis and Therapy, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Brugger, Peter C. [Center of Anatomy and Cell Biology, Integrative Morphology Group, Medical University Vienna, Waehringerstrasse 13, A-1090 Vienna (Austria); Horcher, Ernst [Department of Pediatric Surgery, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Schoepf, Veronika [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Graham, John M.; Rimoin, David L. [Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Weber, Michael; Prayer, Daniela [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria)

    2012-08-15

    Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23-37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

  17. Non-invasive hemoglobin monitoring.

    Science.gov (United States)

    Joseph, Bellal; Haider, Ansab; Rhee, Peter

    2016-09-01

    Technology has transformed the practice of medicine and surgery in particular over the last several decades. This change in practice has allowed diagnostic and therapeutic tests to be performed less invasively. Hemoglobin monitoring remains one of the most commonly performed diagnostic tests in the United States. Recently, non-invasive hemoglobin monitoring technology has gained popularity. The aim of this article is to review the principles of how this technology works, pros and cons, and the implications of non-invasive hemoglobin technology particularly in trauma surgery. Copyright © 2015 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

  18. Prenatal diagnosis of horseshoe lung and esophageal atresia

    International Nuclear Information System (INIS)

    Goldberg, Shlomit; Ringertz, Hans; Barth, Richard A.

    2006-01-01

    We present a case of horseshoe lung (HL) and esophageal atresia suspected prenatally on US imaging and confirmed with fetal MRI. Prenatal diagnosis of HL and esophageal atresia allowed for prenatal counseling and informed parental decisions. (orig.)

  19. Prenatal diagnosis of horseshoe lung and esophageal atresia

    Energy Technology Data Exchange (ETDEWEB)

    Goldberg, Shlomit; Ringertz, Hans [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Barth, Richard A. [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Lucile Packard Children' s Hospital, Radiology, Palo Alto, CA (United States)

    2006-09-15

    We present a case of horseshoe lung (HL) and esophageal atresia suspected prenatally on US imaging and confirmed with fetal MRI. Prenatal diagnosis of HL and esophageal atresia allowed for prenatal counseling and informed parental decisions. (orig.)

  20. Prenatal ultrasound diagnosis of omphalocele

    International Nuclear Information System (INIS)

    Rio Romero, Luskenia del; Blanco Figueredo, Nadia; Rodriguez Dominguez, Zulay

    2014-01-01

    Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The aim of this paper is to present a case of omphalocele with gestational age of 23 weeks and prenatal diagnosis by ultrasonography. Using ultrasound diagnosis in a patient inquest made 40 years of age in the second trimester (gestational age 23 weeks) showed a level of the anterior fetal echogenic image that sticks through the abdominal wall and then locate the cord umbilical. Stomach is seen displaced and loss of normal anatomy of the abdominal circumference. Genetic counseling was conducted at the Municipal Center for Genetics of Manzanillo. Pathologically the fetus presented short and wide neck, low-set ears, defect omphalomesenteric of ductal closure, hernia sac occupied by the caudate lobe of the liver and gallbladder bed, wide base heart dissection showing cava-cava absence of interventricular septum was observed pulmonary valve stenosis most dilation of supravalvular pulmonary artery, large defect and aorta intraventricular septum ride, which speaks in favor of a heart rate troncoconal fallop trilogy over the omphalocele. Prenatal diagnosis by ultrasonography is an efficient and reliable method for prenatal diagnosis of omphalocele

  1. Advanced signal processing theory and implementation for sonar, radar, and non-invasive medical diagnostic systems

    CERN Document Server

    Stergiopoulos, Stergios

    2009-01-01

    Integrates topics of signal processing from sonar, radar, and medical system technologies by identifying their concept similarities. This book covers non-invasive medical diagnostic system applications, including intracranial ultrasound, a technology that attempts to address non-invasive detection on brain injuries and stroke.

  2. Markers for the non-invasive diagnosis of mesothelioma: a systematic review

    NARCIS (Netherlands)

    van der Bij, S.; Schaake, E.; Koffijberg, H.; Burgers, J. A.; de Mol, B. A. J. M.; Moons, K. G. M.

    2011-01-01

    BACKGROUND: Numerous markers have been evaluated to facilitate the non-invasive diagnostic work-up of mesothelioma. The purpose of this study was to conduct a structured review of the diagnostic performance of non-invasive marker tests for the detection of mesothelioma in patients with suspected

  3. Markers for the non-invasive diagnosis of mesothelioma : A systematic review

    NARCIS (Netherlands)

    van der Bij, S.; Schaake, E.; Koffijberg, H.; Burgers, J. A.; De Mol, B. A J M; Moons, K.G.M.

    2011-01-01

    Background: Numerous markers have been evaluated to facilitate the non-invasive diagnostic work-up of mesothelioma. The purpose of this study was to conduct a structured review of the diagnostic performance of non-invasive marker tests for the detection of mesothelioma in patients with suspected

  4. Prenatal Diagnosis of Transposition of the Great Arteries over a 20-Year Period: Improved but Imperfect

    Science.gov (United States)

    Escobar-Diaz, Maria C; Freud, Lindsay R; Bueno, Alejandra; Brown, David W; Friedman, Kevin; Schidlow, David; Emani, Sitaram; del Nido, Pedro; Tworetzky, Wayne

    2015-01-01

    Objective To evaluate temporal trends in prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. Methods Newborns with TGA/IVS referred for surgical management to our center over a 20-year period (1992 – 2011) were included. The study time was divided into 5 four-year periods, and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal pre-operative status and perioperative survival. Results Of the 340 patients, 81 (24%) had a prenatal diagnosis. Prenatal diagnosis increased over the study period from 6% to 41% (p<0.001). Prenatally diagnosed patients underwent a balloon atrial septostomy (BAS) earlier than postnatally diagnosed patients (0 vs. 1 day, p<0.001) and fewer required mechanical ventilation (56% vs. 69%, p=0.03). There were no statistically significant differences in pre-operative acidosis (16% vs. 26%, p=0.1) and need for preoperative ECMO (2% vs. 3%, p=1.0). There was also no significant mortality difference (1 pre-operative and no post-operative deaths among prenatally diagnosed patients, as compared to 4 pre-operative and 6 post-operative deaths among postnatally diagnosed patients). Conclusion The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically different between pre- and postnatally diagnosed patients; however, there were significant pre-operative differences with regard to earlier BAS and less mechanical ventilation. Ongoing study is required to elucidate whether prenatal diagnosis confers long-term benefit. PMID:25484180

  5. Noninvasive molecular screening for oral precancer in Fanconi anemia patients

    NARCIS (Netherlands)

    Smetsers, Stephanie E.; Velleuer, Eunike; Dietrich, Ralf; Wu, Thijs; Brink, Arjen; Buijze, Marijke; Deeg, Dorly J H; Soulier, Jean; Leemans, C. René; Braakhuis, Boudewijn J M; Brakenhoff, Ruud H.

    2015-01-01

    LOH at chromosome arms 3p, 9p, 11q, and 17p are wellestablished oncogenetic aberrations in oral precancerous lesions and promising biomarkers to monitor the development of oral cancer. Noninvasive LOH screening of brushed oral cells is a preferable method for precancer detection in patients at

  6. Ultrasonography for Noninvasive Assessment of Portal Hypertension.

    Science.gov (United States)

    Maruyama, Hitoshi; Yokosuka, Osamu

    2017-07-15

    Portal hypertension is a major pathophysiology in patients with cirrhosis. Portal pressure is the gold standard to evaluate the severity of portal hypertension, and radiological intervention is the only procedure for pressure measurement. Ultrasound (US) is a simple and noninvasive imaging modality available worldwide. B-mode imaging allows broad applications for patients to detect and characterize chronic liver diseases and focal hepatic lesions. The Doppler technique offers real-time observation of blood flow with qualitative and quantitative assessments, and the application of microbubble-based contrast agents has improved the detectability of peripheral blood flow. In addition, elastography for the liver and spleen covers a wider field beyond the original purpose of fibrosis assessment. These developments enhance the practical use of US in the evaluation of portal hemodynamic abnormalities. This article reviews the recent progress of US in the assessment of portal hypertension.

  7. Noninvasive vaccination against infectious diseases.

    Science.gov (United States)

    Zheng, Zhichao; Diaz-Arévalo, Diana; Guan, Hongbing; Zeng, Mingtao

    2018-04-06

    The development of a successful vaccine, which should elicit a combination of humoral and cellular responses to control or prevent infections, is the first step in protecting against infectious diseases. A vaccine may protect against bacterial, fungal, parasitic, or viral infections in animal models, but to be effective in humans there are some issues that should be considered, such as the adjuvant, the route of vaccination, and the antigen-carrier system. While almost all licensed vaccines are injected such that inoculation is by far the most commonly used method, injection has several potential disadvantages, including pain, cross contamination, needlestick injury, under- or overdosing, and increased cost. It is also problematic for patients from rural areas of developing countries, who must travel to a hospital for vaccine administration. Noninvasive immunizations, including oral, intranasal, and transcutaneous administration of vaccines, can reduce or eliminate pain, reduce the cost of vaccinations, and increase their safety. Several preclinical and clinical studies as well as experience with licensed vaccines have demonstrated that noninvasive vaccine immunization activates cellular and humoral immunity, which protect against pathogen infections. Here we review the development of noninvasive immunization with vaccines based on live attenuated virus, recombinant adenovirus, inactivated virus, viral subunits, virus-like particles, DNA, RNA, and antigen expression in rice in preclinical and clinical studies. We predict that noninvasive vaccine administration will be more widely applied in the clinic in the near future.

  8. Prenatal diagnosis of congenital ranula: Case Report

    Directory of Open Access Journals (Sweden)

    Aytül Çorbacıoğlu Esmer

    2013-12-01

    Full Text Available Congenital ranula is a mucous retention cyst which originates from the base of the oral cavity and is caused by sublingual or submandibular canal atresia or canalization defect. As with the other tumors in the oral cavity it may cause upper airway obstruction and hypoxia immediately after delivery. In the following stages of life, apart from the respiratory problems it may cause speach, chewing and swallowing disorders. The prenatal diagnosis of congenital sublingual ranula is very rare, and it presents as an avascular and anechoic cystic mass displacing the tongue upwards on fetal ultrasonography. Polyhydramnios can develop due to the obstruction and stomach may not be visualized. The differential diagnosis includes lymphatic malformations, epulis, epignatus, tyroglossal canal cyst and hemangioma. In this paper, we present a case of ranula which was diagnosed during prenatal ultrasonographic examination. The detailed fetal ultrasound scan performed at the 31th week of gestation revealed a non-septated anechoic cyst in the oral cavity measuring 20 x 17 x 15 mm. The cyst had well-defined regular borders with no solid component. Doppler ultrasonograhy did not show any vascularization within the cyst. After the delivery at the 38th week of gestation, a sublingual cystic mass with regular borders measuring 1.5 x1.5 cm was detected in the mouth of the neonate. Entubation was not required due to the absence of respiratory distress. In order to prevent difficutlies in feeding, the cystic mass was aspirated just after the delivery. A diagnosis of sublingual ranula was made based on the localization and the mucoid consistency of the cyst.

  9. Hidronefrosis prenatal en doble sistema excretor Prenatal hydronephrosis in double excretory system

    Directory of Open Access Journals (Sweden)

    Sandalio Durán Álvarez

    2007-12-01

    Full Text Available Con la introducción del ultrasonido materno-fetal en el seguimiento sistemático del embarazo normal se detectan anomalías congénitas en el 1 % de los fetos, el 20 % de las cuales corresponden al tracto urinario. Se realizó el estudio de recién nacidos y lactantes con hidronefrosis prenatal, cuyos ultrasonidos materno-fetales demostraron la presencia de un doble sistema excretor. Para este propósito todos los recién nacidos y lactantes con hidronefrosis detectada prenatalmente, y doble sistema excretor diagnosticado antes o después del nacimiento, fueron seguidos mediante ultrasonografía renal evolutiva, uretrocistografía miccional, gammagrafía estática o dinámica y, en algunos casos, mediante urograma excretor. Hallamos doble sistema excretor en 7 de los 182 pacientes (3,8 % con anormalidades del tracto urinario diagnosticadas antes del nacimiento. El diagnóstico fue prenatal solo en uno de los fetos (31 semanas de embarazo. La dilatación hidronefrótica fue ligera en dos fetos y grave en cinco. La hidronefrosis obedeció a diferentes causas. Se realizó nefrectomía polar superior en los casos de ectopia ureteral y de uréter superior obstruido, reimplantación en un ureterocele, y en otro se comprobó la ruptura espontánea mediante endoscopia. Los restantes pacientes se trataron sintomáticamente. La hidronefrosis detectada antes del nacimiento mediante ultrasonografía materno-fetal puede estar asociada a un doble sistema excretor. La dilatación hidronefrótica asociada a un doble sistema puede deberse a diferentes causas, y es necesario estudiar cuidadosa y sistemáticamente a estos niños y tratarlos adecuadamente, porque cada uno puede necesitar una conducta diferente.With the introduction of the maternofetal ultrasound in the systematic follow-up of normal pregnancy, congenital anomalies are detected in 1 % of the fetuses, 20 % of which correspond to the urinary tract. The newborns and infants with prenatal

  10. Prenatal Diagnosis of Isolated Lissencephaly by Ultrasonography and Magnetic Resonance Imaging: A Case Report

    Directory of Open Access Journals (Sweden)

    Mehmet Serdar Kütük

    2016-04-01

    Cordocentesis showed a normal 46, XY karyotype, and no deletion of chromosome 17 was detected. Post-mortem examination of the fetus confirmed prenatal US and MRI findings. Early detection of fetal microcephaly can be a sign of lissencephaly and need to be evaluated carefully with fetal MRI, and US.

  11. [Carbohydrates metabolism disturbances when simulating prenatal alcohol intoxication].

    Science.gov (United States)

    Kurch, N M; Vysokogorskiĭ, V E

    2013-01-01

    The influence of prenatal alcohol intoxication on carbohydrate metabolism markers has been investigated at different terms of postnatal offspring development (15, 30 and 60 days). Plasma glucose decreased as compared with the same in control group was detected. In the liver homogenates an increase of phosphorylase activity and a decrease of glucose-6-phosphatase, aldolase and glucose-6-phosphate dehydrogenase activities were found. These changes were accompanied by the incease in the lactate/pyruvate index attributed to increased lactate content in the liver tissue. The obtained data indicate essential disturbances of carbohydrate metabolism markers in prenatal alcoholized offspring, which include stable hypoglycemia, suppression of glycolytic and pentosephosphate pathways of glucose metabolism and lactate accumulation in the liver.

  12. Prenatal complicated duplex collecting system and ureterocele-Important risk factors for urinary tract infection.

    Science.gov (United States)

    Visuri, Sofia; Jahnukainen, Timo; Taskinen, Seppo

    2018-04-01

    To evaluate the risk of urinary tract infections (UTIs) in infants with prenatally detected complicated duplex collecting system (CDS) or ureterocele. All patients with prenatally detected CDS (n=34) or single system ureterocele (n=7) who were admitted to our institution between 2003 and 2013 were enrolled in this retrospective analysis. Duplex collecting systems with ureterocele (n=13), vesicoureteral reflux (VUR) (n=20) or nonrefluxing megaureter without ureterocele (n=7) were determined as complicated. Twenty-six (63%) patients were females. The prevalence of UTI was compared to 66 controls. The median follow-up time was 5.5 (1.7-12.2) years. Eighteen (44%) patients and 3 (5%) controls had at least one UTI (pduplex collecting system associated with nonrefluxing megaureter are at high risk of UTI despite prophylactic antibiotics. In case of prenatally detected ureterocele we suggest to consider early endoscopic perforation. III. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Noninvasive external cardiac pacing for thallium-201 scintigraphy

    International Nuclear Information System (INIS)

    Feldman, M.D.; Warren, S.E.; Gervino, E.V.

    1988-01-01

    Improvements in noninvasive external cardiac pacing have led to a technique with reliable electrical capture and tolerable patient discomfort. To assess the use of this modality of pacing in combination with thallium scintigraphy as a noninvasive pacing stress test, we applied simultaneous noninvasive cardiac pacing, hemodynamic monitoring, and thallium-201 scintigraphy in 14 patients undergoing cardiac catheterization for chest pain syndromes. Two patients had normal coronary arteries, while the remaining 12 had significant coronary artery disease. Thallium scintigraphic responses to pacing were compared to routine exercise thallium stress testing in nine of these 14 patients. All patients were noninvasively paced to more than 85% of the age-predicted maximum heart rate. Twelve patients demonstrated reversible thallium defects, which corresponded in 11 cases to significant lesions seen on coronary angiography. Of nine patients who underwent both pacing and exercise thallium stress tests, comparable maximal rate-pressure products were achieved. Moreover, thallium imaging at peak pacing and during delayed views did not differ significantly from exercise thallium scintigraphy. A limiting factor associated with the technique was local patient discomfort, which occurred to some degree in all patients. We conclude that noninvasive external cardiac pacing together with thallium scintigraphy is capable of detecting significant coronary artery disease and may be comparable to routine exercise thallium stress testing. This new modality of stress testing could be useful in patients unable to undergo the exercise required for standard exercise tolerance testing, particularly if improvements in the technology can be found to reduce further the local discomfort

  14. Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan.

    Science.gov (United States)

    Leiva Portocarrero, Maria Esther; Garvelink, Mirjam M; Becerra Perez, Maria Margarita; Giguère, Anik; Robitaille, Hubert; Wilson, Brenda J; Rousseau, François; Légaré, France

    2015-09-24

    , and few included practical decision support tools or aids to comprehension. Our results indicate there is a need for DAs that effectively support decision making regarding prenatal testing for Down syndrome, especially in light of the recently available non-invasive prenatal screening tests.

  15. Non-invasive diagnostic methods in dentistry

    Science.gov (United States)

    Todea, Carmen

    2016-03-01

    The paper, will present the most important non-invasive methods for diagnostic, in different fields of dentistry. Moreover, the laser-based methods will be emphasis. In orthodontics, 3D laser scanners are increasingly being used to establish database for normative population and cross-sectional growth changes but also to asses clinical outcomes in orthognatic surgical and non-surgical treatments. In prevention the main methods for diagnostic of demineralization and caries detection in early stages are represented by laser fluorescence - Quantitative Light Florescence (QLF); DiagnoDent-system-655nm; FOTI-Fiberoptic transillumination; DIFOTI-Digital Imaging Fiberoptic transillumination; and Optical Coherence Tomography (OCT). In odontology, Laser Doppler Flowmetry (LDF) is a noninvasive real time method used for determining the tooth vitality by monitoring the pulp microcirculation in traumatized teeth, fractured teeth, and teeth undergoing different conservative treatments. In periodontology, recently study shows the ability of LDF to evaluate the health of gingival tissue in periodontal tissue diseases but also after different periodontal treatments.

  16. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

    Science.gov (United States)

    Rosenmann, Ada; Bejarano-Achache, Idit; Eli, Dalia; Maftsir, Genia; Mizrahi-Meissonnier, Liliana; Blumenfeld, Anat

    2009-10-01

    To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis. A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase (TYR) mutations were diagnosed. In 5 families a P gene mutation was detected. Twelve albino fetuses were diagnosed. Following further genetic counseling, all couples elected to terminate the pregnancy. Three additional pregnancies were terminated for other reasons. Families with increased risk for an albino child with severe visual handicap, seek premarital and prenatal genetic counseling and testing, for the prevention of affected offspring. Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism.

  17. Prenatal sonographic diagnosis of focal musculoskeletal anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2002-09-15

    Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

  18. Prenatal sonographic diagnosis of focal musculoskeletal anomalies

    International Nuclear Information System (INIS)

    Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong

    2002-01-01

    Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

  19. Prenatal Diagnosis Of Tay-Sachs Disease

    Directory of Open Access Journals (Sweden)

    Özgür Özyüncü

    2010-04-01

    CONCLUSION: Tay-Sachs disease can be diagnosed prenatally by measuring hexosaminidase enzyme activity in fetal tissue samples with an acceptable complication rate. Prenatal diagnosis should be offered to families who have affected siblings with Tay-Sachs disease.

  20. Prenatal Maternal Stress Programs Infant Stress Regulation

    Science.gov (United States)

    Davis, Elysia Poggi; Glynn, Laura M.; Waffarn, Feizal; Sandman, Curt A.

    2011-01-01

    Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress.…

  1. Pai syndrome: challenging prenatal diagnosis and management

    Energy Technology Data Exchange (ETDEWEB)

    Blouet, Marie [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); University of Lower Normandie, Caen (France); Belloy, Frederique [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); Jeanne-Pasquier, Corinne [Centre Hospitalier Universitaire de Caen, Department of Pathology, Caen (France); Leporrier, Nathalie [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire de Caen, Department of Genetics, Caen (France); Benoist, Guillaume [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire, Pole Femmes-Enfants, Department of Obstetrics and Gynecology, Caen (France)

    2014-09-15

    Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome. (orig.)

  2. Prenatal exposition on ionizing radiations

    International Nuclear Information System (INIS)

    2001-01-01

    The Sessions on Prenatal Exposition on Ionizing Radiations was organized by the Argentine Radioprotection Society, in Buenos Aires, between 8 and 9, November 2001. In this event, were presented papers on: biological effects of ionizing radiation; the radiation protection and the pregnant woman; embryo fetal development and its relationship with the responsiveness to teratogens; radioinduced delayed mental; neonatal irradiation: neurotoxicity and modulation of pharmacological response; pre implanted mouse embryos as a model of uranium toxicity studies; hereditary effects of the radiation and new advances from the UNSCEAR 2001; doses estimation in embryo

  3. Prenatal radiation doses from radiopharmaceuticals

    International Nuclear Information System (INIS)

    Rojo, A.M.; Gomez Parada, I.M.; Di Trano, J.L.

    1998-01-01

    The radiopharmaceutical administration with diagnostic or therapeutic purpose during pregnancy implies a prenatal radiation dose. The dose assessment and the evaluation of the radiological risks become relevant due to the great radiosensitivity of the fetal tissues in development. This paper is a revision of the available data for estimating fetal doses in the cases of the more frequently used radiopharmaceuticals in nuclear medicine, taking into account recent investigation in placental crossover. The more frequent diagnostic and therapeutic procedures were analyzed according to the radiation doses implied. (author) [es

  4. A Case of Fetal Herpes Simplex Encephalitis Diagnosed Prenatally by Ultrasonography in the Third Trimester

    International Nuclear Information System (INIS)

    Lee, Mi Bum; Kim, Yu Ri; Hwang, Han Sung; Park, Yong Won; Kim, Young Han

    2007-01-01

    Almost all reported incidences of herpes simplex virus (HSV) infection in newborns result as a complication of rupture of the amniotic membranes or the delivery of the baby, but infection via the placenta and amniotic membranes is rare. Ventriculomegaly was detected at 36 weeks of gestation by prenatal ultrasonography, and an emergency cesarean section was then performed at 36 weeks of gestation. We report a case of herpes simplex encephalitis detected at 36 weeks of gestation by prenatal ultrasonography, which was confirmed by a postnatal serologic test and CSF test with a brief review of literature

  5. A Case of Fetal Herpes Simplex Encephalitis Diagnosed Prenatally by Ultrasonography in the Third Trimester

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Mi Bum; Kim, Yu Ri; Hwang, Han Sung; Park, Yong Won; Kim, Young Han [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2007-12-15

    Almost all reported incidences of herpes simplex virus (HSV) infection in newborns result as a complication of rupture of the amniotic membranes or the delivery of the baby, but infection via the placenta and amniotic membranes is rare. Ventriculomegaly was detected at 36 weeks of gestation by prenatal ultrasonography, and an emergency cesarean section was then performed at 36 weeks of gestation. We report a case of herpes simplex encephalitis detected at 36 weeks of gestation by prenatal ultrasonography, which was confirmed by a postnatal serologic test and CSF test with a brief review of literature

  6. Noninvasive neuromodulation in cluster headache

    DEFF Research Database (Denmark)

    Láinez, Miguel J A; Jensen, Rigmor

    2015-01-01

    PURPOSE OF REVIEW: Neuromodulation is an alternative in the management of medically intractable cluster headache patients. Most of the techniques are invasive, but in the last 2 years, some studies using a noninvasive device have been presented. The objective of this article is to review the data...... using this approach. RECENT FINDINGS: Techniques as occipital nerve stimulation or sphenopalatine ganglion stimulation are recommended as first-line therapy in refractory cluster patients, but they are invasive and maybe associated with complications. Noninvasive vagal nerve stimulation with an external...... device has been tried in cluster patients. Results from clinical practice and a single randomized clinical trial have been presented showing a reduction of the number of cluster attacks/week in the patients treated with the device. The rate of adverse events was low and most of them were mild. SUMMARY...

  7. Effects after prenatal radiation exposures

    International Nuclear Information System (INIS)

    Streffer, C.

    2001-01-01

    The mammalian organism is highly radiosensitive during all prenatal developmental periods. For most effects a dose relationship with a threshold is observed. These threshold doses are generally above the exposures from medical diagnostic procedures. The quality and extent of radiation effects are very much dependent on the developmental stage during which an exposure takes place and on the radiation dose. An exposure during the preimplantation period will cause lethality. Malformations are usually induced after exposures during the major organogenesis. Growth retardation is also possible during the late organogenesis and foetal periods. The lower limits of threshold doses for these effects are in the range of 100 mGy. A radiation exposure during the early foetal period can lead to severe mental retardation and impairment of intelligence. There are very serious effects with radiation doses above 0.3 Gy. Carcinogenesis can apparently occur after radiation exposures during the total prenatal development period. The radiation risk factor up to now has not been clear, but it seems that it is in the range of risk factors for cancer that are observed after exposures during childhood. For radiation doses that are used in radiological diagnostics the risk is zero or very low. A termination of pregnancy after doses below 100 mGy should not be considered. (author)

  8. Prenatal MRI evaluation of limb-body wall complex

    Energy Technology Data Exchange (ETDEWEB)

    Aguirre-Pascual, Elisa [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Hospital Universitario Doce de Octubre, Department of Radiology, Madrid (Spain); Epelman, Monica [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Nemours Children' s Hospital, Department of Medical Imaging, Orlando, FL (United States); Johnson, Ann M.; Chauvin, Nancy A.; Coleman, Beverly G.; Victoria, Teresa [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Philadelphia, PA (United States)

    2014-11-15

    The sonographic (US) features of limb-body wall complex have been well documented; however the literature regarding the findings on MRI in limb-body wall complex is scant. To characterize the prenatal MRI features of limb-body wall complex. We performed a retrospective review of all MRI scans of fetuses diagnosed with limb-body wall complex at our institution from 2001 to 2011. Fetuses without correlating US scans or follow-up information were excluded. Three pediatric radiologists blinded to the specific US findings reviewed the prenatal MRIs. Images were evaluated for the organ location and attachment, the body part affected, characterization of the body wall defect, and spinal, limb and umbilical cord abnormalities. Ten subjects met inclusion criteria. MRI was able to detect and characterize the body part affected and associated abnormalities. All fetuses had ventral wall defects, a small thorax and herniated liver and bowel. The kidneys were extracorporeal in three cases. The extruded organs were attached to the placenta or the uterine wall in all cases. Abnormal spinal curvatures of various degrees of severity were present in all cases. Eight cases had a short, uncoiled cord. Limb anomalies were present in 6 of the 10 cases. We illustrate the common fetal MRI findings of limb-body wall complex. The prenatal diagnosis of limb-body wall complex and the differentiation of this defect from treatable abdominal wall defects are crucial to providing appropriate guidance for patient counseling and management. (orig.)

  9. Opportunities and challenges in prenatal diagnosis : towards personalized fetal genetics

    NARCIS (Netherlands)

    Lichtenbelt, K.D.

    2013-01-01

    In this thesis we studied the efficacy and utilization of prenatal screening and prenatal diagnosis in the Netherlands and the increasing options for prenatal genetic diagnosis in general. In chapter 1 background information on prenatal screening and diagnosis in pregnancies conceived through

  10. Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells

    Institute of Scientific and Technical Information of China (English)

    WU Ting; DING Xin-sheng; LI Wen-lei; YAO Juan; DENG Xiao-xuan

    2005-01-01

    Background Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord.The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients.This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child.Methods Prenatal diagnosis was made in 8 fetuses with a family history of SMA.Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene.Results The survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA.Two fetuses were detected positive and the pregnancies were terminated.Conclusion Our method is effective and convenient in prenatal diagnosis of SMA.

  11. Consumerism in prenatal diagnosis? A local Italian study.

    Science.gov (United States)

    Bellieni, C V; Maffei, M; Brogna, A; Plantulli, A; Cervo, E; Reda, M; Signorini, L; Buonocore, G; Petraglia, F

    2008-01-01

    To assess the causes of excessive use of prenatal diagnosis. 304 questionnaires were completed anonymously by puerperae in a Siena (Italy) hospital in May-August 2006. The questionnaires contained 24 questions about the women, examinations performed during pregnancy and the reasons for them. The mean number of ultrasound examinations per woman was 6.5 +/- 2.5. Forty-two percent of the women in our sample (29.3% of women under 35 and 68.9% of women over 35 years of age) reported that amniocentesis/CVS had been performed; the mean age of these women was 34.1 +/- 4.5 years. Eighty-five percent of the women under 36 years of age who had amniocentesis declared that it was performed as a personal choice and 15% for the presence of risk factors. Among 131 women who performed amniocentesis, 32 performed it with a normal blood screening for Down syndrome (DS), and 76 declared to have performed no blood screening for DS. Only 45% of women stated that they thought age above 35 years was a risk factor for pregnancy, but most of them (75%) were aware that amniocentesis was performed to detect chromosomal anomalies. In 89% of the cases a source of information about prenatal testing was the woman's gynecologist. This study shows that the high use of prenatal examinations is often not justified by the presence of clinical risk factors and that both national health system and caregivers should find new strategies to inform women about the aims of prenatal tests, and promote a more serene approach to pregnancy. A broader study is needed to confirm these data. Copyright 2008 S. Karger AG, Basel.

  12. Clinical outcome and follow-up of prenatal hydronephrosis

    Directory of Open Access Journals (Sweden)

    Afshin Safaei Asl

    2012-01-01

    Full Text Available Hydronephrosis is probably the most common congenital abnormality detected prenatally by ultrasonography This study was performed to determine the cause and outcome of prenatal hydronephrosis in our hospital. A total of 45 infants, with 57 prenatally hydronephrotic renal units, were enrolled into this study. For the purpose of this study, the degree of hydronephrosis was defined as mild, moderate or severe. Postnatal ultrasonography was performed as soon as possible in those with bilateral hyronephrosis and 3-7 days after birth in those with unilateral hydronephrosis. Voiding cystourethrogram was performed in 6-8 weeks time. In the absence of vesicoureteral reflux (VUR, Diethylenetriamene penta acetate scan was performed to exclude obstructive uropathy. There were 29 males and 16 females (male:female ratio 1.8:1, and unilateral and bilateral hydronephrosis were seen in 33 (73% and 12 (27% of the cases, res-pectively. Hydronephrosis was caused by ureteropelvic junction obstruction (UPJO in 20 (44.5%, VUR in 10 (22.2%, ureterovesical junction obstruction in four (8.9 %, posteriorurethral valves in four (8.9 %, UPJO with VUR in two (4.4% and non-VUR non-obstructive in one (2.2%. During follow-up, 16 patients (35.5% required operative intervention while seven (15.5% improved spontaneously. Fetal hydronephrosis needs close follow-up during both ante-natal and postnatal periods. In this study, the most common cause for hydronephrosis were UPJO and VUR. Also seen in this study is the noteworthy point that mild fetal hydronephrosis is relatively benign and does not require surgical intervention in most cases and surgery should be performed only if there is renal function compromise. Prenatal consultation with a pediatric nephrologist and urologist is useful in decreasing parental anxiety and facilitating postnatal management.

  13. The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

    Directory of Open Access Journals (Sweden)

    Hyun Ho Han

    2016-03-01

    Full Text Available BackgroundThe prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center.MethodsThe multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation.ResultsThe abortion rate was 28% (3/11. The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91% reported that they were satisfied with the multidisciplinary management in our center.ConclusionsAlthough a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy.

  14. Pre-Analytical Conditions in Non-Invasive Prenatal Testing of Cell-Free Fetal RHD

    DEFF Research Database (Denmark)

    Clausen, Frederik Banch; Jakobsen, Tanja Roien; Rieneck, Klaus

    2013-01-01

    D positive fetus. Prophylaxis reduces the risk of immunization that may lead to hemolytic disease of the fetus and the newborn. The reliability of predicting the fetal RhD type depends on pre-analytical factors and assay sensitivity. We evaluated the testing setup in the Capital Region of Denmark, based...

  15. Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) Time

    NARCIS (Netherlands)

    Bianchi, Diana W.; Avent, Neil D.; Costa, Jean-Marc; van der Schoot, C. Ellen

    2005-01-01

    Rhesus (Rh) D blood group incompatibility between the pregnant woman and her fetus is a significant problem due to the possibility of maternal alloimmunization and consequent hemolytic disease of the newborn. The RhD-negative blood group is found in 15% of whites, 3-5% of black Africans, and is rare

  16. The value and role of non-invasive prenatal testing in a select South ...

    African Journals Online (AJOL)

    There were two abnormal NIPT results, one indicating a high risk of trisomy 13 and the other a triploidy. Patients who screened negative elected not to have an invasive test. Conclusion. The value of NIPT in this study was that it made it possible to avoid a number of invasive tests. NIPT had a role in contingency screening.

  17. Non-invasive prenatal diagnosis and determination of fetal Rh status

    NARCIS (Netherlands)

    van der Schoot, C. Ellen; Hahn, Sinuhe; Chitty, Lyn S.

    2008-01-01

    RhD blood group incompatibility between a pregnant woman and her fetus can result in maternal alloimmunization and consequent haemolytic disease of the newborn (HDN) in subsequent pregnancies. The D-negative blood group is found in 15% of whites, 3-5% of black Africans, and is rare in Asians. Recent

  18. Non-invasive neural stimulation

    Science.gov (United States)

    Tyler, William J.; Sanguinetti, Joseph L.; Fini, Maria; Hool, Nicholas

    2017-05-01

    Neurotechnologies for non-invasively interfacing with neural circuits have been evolving from those capable of sensing neural activity to those capable of restoring and enhancing human brain function. Generally referred to as non-invasive neural stimulation (NINS) methods, these neuromodulation approaches rely on electrical, magnetic, photonic, and acoustic or ultrasonic energy to influence nervous system activity, brain function, and behavior. Evidence that has been surmounting for decades shows that advanced neural engineering of NINS technologies will indeed transform the way humans treat diseases, interact with information, communicate, and learn. The physics underlying the ability of various NINS methods to modulate nervous system activity can be quite different from one another depending on the energy modality used as we briefly discuss. For members of commercial and defense industry sectors that have not traditionally engaged in neuroscience research and development, the science, engineering and technology required to advance NINS methods beyond the state-of-the-art presents tremendous opportunities. Within the past few years alone there have been large increases in global investments made by federal agencies, foundations, private investors and multinational corporations to develop advanced applications of NINS technologies. Driven by these efforts NINS methods and devices have recently been introduced to mass markets via the consumer electronics industry. Further, NINS continues to be explored in a growing number of defense applications focused on enhancing human dimensions. The present paper provides a brief introduction to the field of non-invasive neural stimulation by highlighting some of the more common methods in use or under current development today.

  19. Effects of prenatal exposure to ionizing radiation

    International Nuclear Information System (INIS)

    Miller, R.W.

    1990-01-01

    Prenatal exposure to ionizing radiation induces some effects that are seen at birth and others that cannot be detected until later in life. Data from A-bomb survivors in Hiroshima and Nagasaki show a diminished number of births after exposure under 4 wk of gestational age. Although a wide array of congenital malformations has been found in animal experimentation after such exposure to x rays, in humans only small head size (exposure at 4-17 wk) and mental retardation (exposure primarily at 8-15 wk) have been observed. In Hiroshima, small head size occurred after doses of 0.10-0.19 Gy or more, and an excess of mental retardation at 0.2-0.4 Gy or more. Intelligence test scores were reduced among A-bomb survivors exposed at 8-15 wk of gestational age by 21-29 IQ points per Gy. Other effects of in-utero exposure to atomic radiation include long-lasting complex chromosome abnormalities

  20. Effects of prenatal exposure to ionizing radiation

    Energy Technology Data Exchange (ETDEWEB)

    Miller, R.W. (National Cancer Institute, Bethesda, MD (USA))

    1990-07-01

    Prenatal exposure to ionizing radiation induces some effects that are seen at birth and others that cannot be detected until later in life. Data from A-bomb survivors in Hiroshima and Nagasaki show a diminished number of births after exposure under 4 wk of gestational age. Although a wide array of congenital malformations has been found in animal experimentation after such exposure to x rays, in humans only small head size (exposure at 4-17 wk) and mental retardation (exposure primarily at 8-15 wk) have been observed. In Hiroshima, small head size occurred after doses of 0.10-0.19 Gy or more, and an excess of mental retardation at 0.2-0.4 Gy or more. Intelligence test scores were reduced among A-bomb survivors exposed at 8-15 wk of gestational age by 21-29 IQ points per Gy. Other effects of in-utero exposure to atomic radiation include long-lasting complex chromosome abnormalities.

  1. Situs anomalies on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Stefan F.; Brugger, Peter C.; Nemec, Ursula; Bettelheim, Dieter; Kasprian, Gregor; Amann, Gabriele; Rimoin, David L.; Graham, John M.; Prayer, Daniela

    2012-01-01

    Objective: Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US. Materials and methods: This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. With an MRI standard protocol, the whole fetus was assessed for anomalies, with regard to the position and morphology of the following structures: heart; venous drainage and aorta; stomach and intestines; liver and gallbladder; and the presence and number of spleens. Results: Situs inversus totalis was found in 3/12 fetuses; situs inversus with levocardia in 1/12 fetuses; situs inversus abdominis in 2/12 fetuses; situs ambiguous with polysplenia in 3/12 fetuses, and with asplenia in 2/12 fetuses; and isolated dextrocardia in 1/12 fetuses. Congenital heart defects (CHDs), vascular anomalies, and intestinal malrotations were the most frequent associated malformations. In 5/12 cases, the US and MRI diagnoses were concordant. Compared to US, in 7/12 cases, additional MRI findings specified the situs anomaly, but CHDs were only partially visualized in six cases. Conclusions: Our initial MRI results demonstrate the visualization of situs anomalies and associated malformations in utero, which may provide important information for perinatal management. Using a standard protocol, MRI may identify additional findings, compared to US, which confirm and specify the situs anomaly, but, with limited MRI visualization of fetal CHDs.

  2. Prenatal stress, prematurity and asthma

    Science.gov (United States)

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C.

    2016-01-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the U.S. and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic Blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced “premature asthma”. Prenatal stress may not only cause abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring Th2 (allergic) immune responses characteristic of atopic asthma: IL-6, which has been associated with premature labor, can promote Th2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing “premature asthma”. If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common co-morbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (e.g. from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health. PMID:26676148

  3. Clinical evaluation of non-invasive perfusion-weighted MRI

    International Nuclear Information System (INIS)

    Takasu, Miyuki

    2000-01-01

    A spin labeling method to measure cerebral blood flow without a contrast medium was developed and applied clinically to obtain a non-invasive perfusion-weighted image. The purpose of this study is to compare the non-invasive perfusion-weighted image using FAIR with the well-established PWI using a bolus injection of Gd-DTPA. Of 41 lesions which revealed decreased perfusion, 13 were shown to be low signal intensity areas on FAIR. Therefore, detection rate of FAIR for hypoperfusion was 32%. Of 8 lesions which revealed increased perfusion, 7 demonstrated high intensity on FAIR. Therefore, detection rate of FAIR for hyperperfusion was 88%. Seven lesions were found to have a mean pixel value of zero on PWI. Of these lesions, 5 lesions could be detected as high signal intensity area on FAIR. The rCBV- and rCBF index ratios of hypoperfused lesions detected on FAIR were significantly lower than those of lesions which were not detected on FAIR (p=0.007, p=0.01). As concerns the lesions detected of FAIR, there were positive correlation between rCBV- or rCBF index ratio and FAIR signal ratio (rCBV ratio: ρ=0.873, p=0.0002, rCBF index ratio: ρ=0.858, p=0.0003). FAIR is valuable clinical tool to detect perfusion abnormality semi-quantitatively without contrast medium, although it showed relatively low detection rate for hypoperfused lesions. (author)

  4. Prenatal treatment for serious neurological sequelae of congenital toxoplasmosis: an observational prospective cohort study.

    Science.gov (United States)

    Cortina-Borja, Mario; Tan, Hooi Kuan; Wallon, Martine; Paul, Malgorzata; Prusa, Andrea; Buffolano, Wilma; Malm, Gunilla; Salt, Alison; Freeman, Katherine; Petersen, Eskild; Gilbert, Ruth E

    2010-10-12

    The effectiveness of prenatal treatment to prevent serious neurological sequelae (SNSD) of congenital toxoplasmosis is not known. Congenital toxoplasmosis was prospectively identified by universal prenatal or neonatal screening in 14 European centres and children were followed for a median of 4 years. We evaluated determinants of postnatal death or SNSD defined by one or more of functional neurological abnormalities, severe bilateral visual impairment, or pregnancy termination for confirmed congenital toxoplasmosis. Two-thirds of the cohort received prenatal treatment (189/293; 65%). 23/293 (8%) fetuses developed SNSD of which nine were pregnancy terminations. Prenatal treatment reduced the risk of SNSD. The odds ratio for prenatal treatment, adjusted for gestational age at maternal seroconversion, was 0.24 (95% Bayesian credible intervals 0.07-0.71). This effect was robust to most sensitivity analyses. The number of infected fetuses needed to be treated to prevent one case of SNSD was three (95% Bayesian credible intervals 2-15) after maternal seroconversion at 10 weeks, and 18 (9-75) at 30 weeks of gestation. Pyrimethamine-sulphonamide treatment did not reduce SNSD compared with spiramycin alone (adjusted odds ratio 0.78, 0.21-2.95). The proportion of live-born infants with intracranial lesions detected postnatally who developed SNSD was 31.0% (17.0%-38.1%). The finding that prenatal treatment reduced the risk of SNSD in infected fetuses should be interpreted with caution because of the low number of SNSD cases and uncertainty about the timing of maternal seroconversion. As these are observational data, policy decisions about screening require further evidence from a randomized trial of prenatal screening and from cost-effectiveness analyses that take into account the incidence and prevalence of maternal infection. Please see later in the article for the Editors' Summary.

  5. Prenatal treatment for serious neurological sequelae of congenital toxoplasmosis: an observational prospective cohort study.

    Directory of Open Access Journals (Sweden)

    Mario Cortina-Borja

    2010-10-01

    Full Text Available The effectiveness of prenatal treatment to prevent serious neurological sequelae (SNSD of congenital toxoplasmosis is not known.Congenital toxoplasmosis was prospectively identified by universal prenatal or neonatal screening in 14 European centres and children were followed for a median of 4 years. We evaluated determinants of postnatal death or SNSD defined by one or more of functional neurological abnormalities, severe bilateral visual impairment, or pregnancy termination for confirmed congenital toxoplasmosis. Two-thirds of the cohort received prenatal treatment (189/293; 65%. 23/293 (8% fetuses developed SNSD of which nine were pregnancy terminations. Prenatal treatment reduced the risk of SNSD. The odds ratio for prenatal treatment, adjusted for gestational age at maternal seroconversion, was 0.24 (95% Bayesian credible intervals 0.07-0.71. This effect was robust to most sensitivity analyses. The number of infected fetuses needed to be treated to prevent one case of SNSD was three (95% Bayesian credible intervals 2-15 after maternal seroconversion at 10 weeks, and 18 (9-75 at 30 weeks of gestation. Pyrimethamine-sulphonamide treatment did not reduce SNSD compared with spiramycin alone (adjusted odds ratio 0.78, 0.21-2.95. The proportion of live-born infants with intracranial lesions detected postnatally who developed SNSD was 31.0% (17.0%-38.1%.The finding that prenatal treatment reduced the risk of SNSD in infected fetuses should be interpreted with caution because of the low number of SNSD cases and uncertainty about the timing of maternal seroconversion. As these are observational data, policy decisions about screening require further evidence from a randomized trial of prenatal screening and from cost-effectiveness analyses that take into account the incidence and prevalence of maternal infection. Please see later in the article for the Editors' Summary.

  6. Prenatal exposure to an environmentally relevant phthalate mixture disrupts reproduction in F1 female mice

    Energy Technology Data Exchange (ETDEWEB)

    Zhou, Changqing; Gao, Liying; Flaws, Jodi A., E-mail: jflaws@illinois.edu

    2017-03-01

    Phthalates are used in a large variety of products, such as building materials, medical devices, and personal care products. Most previous studies on the toxicity of phthalates have focused on single phthalates, but it is also important to study the effects of phthalate mixtures because humans are exposed to phthalate mixtures. Thus, we tested the hypothesis that prenatal exposure to an environmentally relevant phthalate mixture adversely affects female reproduction in mice. To test this hypothesis, pregnant CD-1 dams were orally dosed with vehicle (tocopherol-stripped corn oil) or a phthalate mixture (20 and 200 μg/kg/day, 200 and 500 mg/kg/day) daily from gestational day 10 to birth. The mixture was based on the composition of phthalates detected in urine samples from pregnant women in Illinois. The mixture included 35% diethyl phthalate, 21% di(2-ethylhexyl) phthalate, 15% dibutyl phthalate, 15% diisononyl phthalate, 8% diisobutyl phthalate, and 5% benzylbutyl phthalate. Female mice born to the exposed dams were subjected to tissue collections and fertility tests at different ages. Our results indicate that prenatal exposure to the phthalate mixture significantly increased uterine weight and decreased anogenital distance on postnatal days 8 and 60, induced cystic ovaries at 13 months, disrupted estrous cyclicity, reduced fertility-related indices, and caused some breeding complications at 3, 6, and 9 months of age. Collectively, our data suggest that prenatal exposure to an environmentally relevant phthalate mixture disrupts aspects of female reproduction in mice. - Highlights: • Prenatal exposure to a phthalate mixture disrupts F1 estrous cyclicity. • Prenatal exposure to a phthalate mixture induces F1 ovarian cysts. • Prenatal exposure to a phthalate mixture decreases F1 female fertility-related indices. • Prenatal exposure to a phthalate mixture induces F1 breeding complications.

  7. Anticipated ethical challenges with growing molecular prenatal ...

    African Journals Online (AJOL)

    Anticipated ethical challenges with growing molecular prenatal diagnosis in Nigeria. ... Bayero Journal of Pure and Applied Sciences ... Ethical standards in medical laboratories are derived from medical ethics therefore, the four fundamental ...

  8. Prenatal Inflammation Linked to Autism Risk

    Science.gov (United States)

    ... Thursday, January 24, 2013 Prenatal inflammation linked to autism risk Maternal inflammation during early pregnancy may be related to an increased risk of autism in children, according to new findings supported by ...

  9. Eugenesia y diagnóstico prenatal

    OpenAIRE

    González Salvat, Rosa María; González Labrador, Ignacio

    2002-01-01

    El uso del diagnóstico prenatal en la práctica de la genética médica ha hecho que se recuerden teorías eugenésicas. Se realizó una revisión histórica de este término y se relacionó con el uso del diagnóstico prenatal (DPN) y el aborto selectivo a la luz de los conocimientos bioéticos actuales. The use of the prenatal diagnosis in the practice of medical genetics has led us to remember eugenic theories. A historical review of this term was made and it was connected with the use of prenatal ...

  10. Prenatal and pubertal testosterone affect brain lateralization

    NARCIS (Netherlands)

    Beking, T; Geuze, R H; van Faassen, M; Kema, I P; Kreukels, B P C; Groothuis, T G G

    After decades of research, the influence of prenatal testosterone on brain lateralization is still elusive, whereas the influence of pubertal testosterone on functional brain lateralization has not been investigated, although there is increasing evidence that testosterone affects the brain in

  11. prenatal ultrasound diagnosis of discordant occipital encephalocele

    African Journals Online (AJOL)

    drclement

    PRENATAL ULTRASOUND DIAGNOSIS OF DISCORDANT OCCIPITAL. ENCEPHALOCELE IN MULTIPLE PREGNANCY - A CASE REPORT. *O.U Ogbeide (MBBS, FMCR), *EJ IKUBOR (MBBS). *Department of Radiology University of Benin Teaching Hospital, Benin-City, Nigeria. Correspondence: Dr Ogbeide Osesogie ...

  12. Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

    DEFF Research Database (Denmark)

    Kjaergaard, S; Sundberg, K; Jørgensen, F S

    2010-01-01

    The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndrome...... and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting....

  13. Presenting the Prenatal Caregiving Experiences Questionnaire

    DEFF Research Database (Denmark)

    Røhder, Katrine; Trier, Christopher Høier; Brennan, Jessica

    to the child´s attachment system. The Prenatal Caregiving Experiences Questionnaire (PCEQ) (Brennan, George, & Solomon, 2013) is the first questionnaire that directly assesses prenatal caregiving representation. This poster presentation brings together different researchers who use the instrument in ongoing...... longitudinal research projects. The poster includes a description of the development of the PCEQ questionnaire, the theoretical background, as well as preliminary data on future mothers and fathers from the WARM study....

  14. Can economics be applied to prenatal screening?

    OpenAIRE

    Nicholas Phin

    1990-01-01

    This paper is a review of the economics of prenatal screening as seen from a medical point of view. The difficulties and controversies over the economic analysis are examined with specific reference to screening for Down syndrome. The aims and principles of prenatal screening are set out and discussed before reviewing the attempts that have been made to assess the costs and benefits of screening for Down syndrome. The major problem identified is the measurement and valuation of benefits. This...

  15. Prenatal suspicion and postnatal diagnosis of urinary tract malformation in children

    International Nuclear Information System (INIS)

    Krzemien, G.; Roszkowska-Blaim, M.; Szmigielska, A.; Wojnar, J.; Kostro, I.; Sekowska, R.; Karpinska, M.; Madzik, J.; Biejat, A.; Majkowska, Z.; Marcinski, A.

    2005-01-01

    Introduction of prenatal ultrasonography (USG) in fetus diagnostic caused early detection of congenital urinary tract abnormalities. Dilatation of renal pelvis, which is detected in ultrasonography from 16 week of gestational age is the most common abnormality in fetal urinary tract. The aim of the study was to assess the frequency of congenital abnormalities in urinary tract in children with prenatal suspicion of anomalies. The retrospective study included 100 children with prenatal suspicion of congenital abnormalities in urinary tract. Changes in urinary tract were detected in ultrasonography between 18-41 (mean 32,6±5,6) week of gestational age. Unilateral dilatation of urinary tract was found in 57% fetuses, bilateral dilatation in 31%, others anomalies in 12% fetuses. Ultrasonography of urinary tract was done in all children in 1-122 (mean 17,5±20,5) day of life, cystourethrography in 93% of children, renal dynamic scintygraphy in 52%, renal static scintygraphy in 16% and urography in 39% of children. Congenital urinary tract abnormalities were detected in 63% of children. Transient dilatation of renal pelvis was observed in 25% of children. We didn't find any abnormalities in 12% patients. The most common changes in urinary tract were: ureteropelvic junction obstruction (22%), vesicoureteral reflux (15%), ureterovesical junction obstruction (7%), posterior urethral valve (7%) and polycystic renal dysplasia (7%). 33% children were qualified for invasive treatment. 1. Prenatal and postnatal ultrasonography of urinary tract allows detecting congenital abnormalities of urinary tract early age of life. 2. High percentage of abnormalities in urinary tract detected in prenatal ultrasonography orders cooperation between neonatologist, urologist and nephrologist. (author)

  16. Prenatal ultrasonographic findings of cloacal anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2002-09-15

    To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 {+-} 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

  17. Prenatal ultrasonographic findings of cloacal anomaly

    International Nuclear Information System (INIS)

    Song, Mi Jin

    2002-01-01

    To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 ± 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

  18. Family structure and use of prenatal care

    Directory of Open Access Journals (Sweden)

    Elisabete Alves

    2015-06-01

    Full Text Available This cross-sectional study intended to assess the use of prenatal care according to the family structure in a population with free universal access to prenatal care. In 2005-2006, the Portuguese birth cohort was assembled by the recruitment of puerperae at public maternity wards in Porto, Portugal. In the current analysis, 7,211 were included. Data on socio-demographic characteristics, obstetric history, and prenatal care were self-reported. Single mothers were considered as those whose household composition did not include a partner at delivery. Approximately 6% of the puerperae were single mothers. These women were more likely to have an unplanned pregnancy (OR = 6.30; 95%CI: 4.94-8.04, an inadequate prenatal care (OR = 2.30; 95%CI: 1.32-4.02, and to miss the ultrasound and the intake of folic acid supplements during the first trimester of pregnancy (OR = 1.71; 95%CI: 1.30-2.27; and OR = 1.67; 95%CI: 1.32-2.13, respectively. The adequacy and use of prenatal care was less frequent in single mothers. Educational interventions should reinforce the use and early initiation of prenatal care.

  19. Barriers to adequate prenatal care utilization in American Samoa

    Science.gov (United States)

    Hawley, Nicola L; Brown, Carolyn; Nu’usolia, Ofeira; Ah-Ching, John; Muasau-Howard, Bethel; McGarvey, Stephen T

    2013-01-01

    Objective To describe the utilization of prenatal care in American Samoan women and to identify socio-demographic predictors of inadequate prenatal care utilization. Methods Using data from prenatal clinic records, women (n=692) were categorized according to the Adequacy of Prenatal Care Utilization Index as having received adequate plus, adequate, intermediate or inadequate prenatal care during their pregnancy. Categorical socio-demographic predictors of the timing of initiation of prenatal care (week of gestation) and the adequacy of received services were identified using one way Analysis of Variance (ANOVA) and independent samples t-tests. Results Between 2001 and 2008 85.4% of women received inadequate prenatal care. Parity (P=0.02), maternal unemployment (P=0.03), and both parents being unemployed (P=0.03) were negatively associated with the timing of prenatal care initation. Giving birth in 2007–2008, after a prenatal care incentive scheme had been introduced in the major hospital, was associated with earlier initiation of prenatal care (20.75 versus 25.12 weeks; Pprenatal care utilization in American Samoa is a major concern. Improving healthcare accessibility will be key in encouraging women to attend prenatal care. The significant improvements in the adequacy of prenatal care seen in 2007–2008 suggest that the prenatal care incentive program implemented in 2006 may be a very positive step toward addressing issues of prenatal care utilization in this population. PMID:24045912

  20. Prenatal diagnosis as a tool and support for eugenics: myth or reality in contemporary French society?

    Science.gov (United States)

    Gaille, Marie; Viot, Géraldine

    2013-02-01

    Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist's various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for "normality" hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way.

  1. Experience of prenatal consultation in Zaporizhzhia region over the 2011-2015 years

    Directory of Open Access Journals (Sweden)

    N. V. Avramenko

    2016-08-01

    Full Text Available Congenital malformations are one of the main causes of high infant mortality and disability from childhood. Medical and genetic counseling is an important integral part of prenatal diagnosis. Aim. The experience of the work of prenatal consultation at the clinic of Zaporizhzhya Regional Center of Human Reproduction for the 2011- 2015 years has been analyzed. Modern methods of prenatal diagnosis, including mass and selective testing of pregnant women on birth defects and chromosomal abnormalities by ultrasound examination and evaluation of maternal serum markers, as well as prenatal, cytogenetic diagnosis of chromosomal diseases in high-risk groups have been used for the early detection and prevention of birth of children with hereditary diseases in the Zaporizhzhia region. Methods and results. 2,528 Pregnant women with suspected congenital malformations of the fetus have been examined. To adequately assess the perinatal prognosis and develop tactics of pregnancy in the early neonatal period the diagnosis of pregnant women included consultation of geneticist, obstetrician - gynecologist, others specialists. Malformations of the fetus have been identified in 1.435 pregnant women. Conclusions. To identify chromosomal aberrations and congenital malformations in the fetus the prenatal consultation defines: the forecast for the life and health of the child, the tactics of pregnancy and birth, postnatal correction. Multiple malformations in the fetus and congenital central nervous system development occupy the first place in the structure of abortion during the observed period (2011-2015 years.

  2. [Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

    Science.gov (United States)

    Li, Long; Ma, Na; Li, Xiu-Rong; Gong, Fei; DU, Juan

    2016-08-01

    To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis. The proband carried compound heterozygous mutations of c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene; c.88C>T(p.Arg30*) had been reported as a pathogenic mutation, and c.968+2T>A was a new mutation. Pedigree analysis showed that the two mutations were inherited from the mother and father, respectively. Prenatal diagnosis showed that the fetus did not inherit the mutations from parents and had no mutations at the two loci. The follow-up visit confirmed that the infant was in a healthy state, which proved the accuracy of genetic diagnosis and prenatal diagnosis. The compound heterozygous mutations c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene are the cause of BS in the proband, and prenatal diagnosis can prevent the risk of recurrence of BS in this family.

  3. A prenatally diagnosed pentalogy of cantrell case with encephalocele: A rare variant

    Directory of Open Access Journals (Sweden)

    Melih Atahan Güven

    2009-06-01

    Full Text Available AIM: The aim of this study is to present a prenatally diagnosed and postnatally confirmed Pentalogy of Cantrell case also with neural tube defect. CASE: Characteristic features of Cantrell Pentalogy are omphalocele due to the defect of anterior diaphragm and lower sternum, absence of pericardium and cardiac anomaly. We are presenting here a case with encephalocele and omphalocele containing the heart with atrioventricular septal defect detected during prenatal ultrasonography. There is no consanguinity and history of drug usage or toxin exposure during pregnancy. As these malformations cause a very low chance of survival, pregnancy was terminated after an informed consent. Postmortem genetic evaluation of the fetus confirmed the prenatal findings. CONCLUSION: It is easy to diagnose omphalocele during pregnancy but if it associates with heart anomalies, Cantrell Pentalogy must be remembered. Encephalocele and other types of neural tube defects very rarely associate with this disorder and there were fewer than 20 cases reported in the literature.

  4. Clinical application of fluorescence in situ hybridization for prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Shu-fang JIANG

    2012-07-01

    Full Text Available Objective To establish and optimize the procedures of fluorescence in situ hybridization(FISH), and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female or 2 blue/1 yellow/1 red fluorescence signals (male under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.

  5. Does offering prenatal screening influence pregnant women's attitudes regarding prenatal testing?

    NARCIS (Netherlands)

    Kleinveld, J.H.; van den Berg, M.; van Eijk, J.T.; van Vugt, J.M.G.; van der Wal, G.; Timmermans, D.R.M.

    2008-01-01

    Objectives: This study aims to find out whether offering prenatal screening for Down syndrome and neural tube defects influences pregnant women's attitudes toward having a screening test. Methods: Women were randomised into a group that was offered prenatal screening and a group that was not offered

  6. Prenatal stress may increase vulnerability to life events comparison with the effects of prenatal dexamethasone

    DEFF Research Database (Denmark)

    Hougaard, Karin; Andersen, Maibritt B; Kjaer, Sanna L

    2005-01-01

    naïve at the time of ASR testing, whereas the other had been through blood sampling for assessment of the hormonal stress response to restraint, 3 months previously. Both prenatal CMS and dexamethasone increased ASR in the offspring compared to controls, but only in prenatally stressed offspring......Prenatal stress has been associated with a variety of alterations in the offspring. The presented observations suggest that rather than causing changes in the offspring per se, prenatal stress may increase the organism's vulnerability to aversive life events. Offspring of rat dams stressed...... of the acoustic startle response. Further, a single aversive life event showed capable of changing the reactivity of prenatally stressed offspring, whereas offspring of dams going through a less stressful gestation was largely unaffected by this event. This suggests that circumstances dating back to the very...

  7. [Prenatal control related to the number of consultations as hyperglycemia diagnostic method].

    Science.gov (United States)

    Hernández-Valencia, Marcelino; Carrillo Pacheco, Adia

    2002-12-01

    The impaired in the metabolism of the carbohydrates in a previously healthy woman who develops hyperglycemia during the pregnancy is know as gestational diabetes, the maternal-fetal mortality and morbility is almost the same one that a pregnant normal woman, if the metabolic dysfunction is appropriately controlled, the complications can be treated with success if the pregnant one attends prenatal control. The aim of this study was to know the relationship between number of consultations and the hyperglycemia frequency to settle down. 304 pregnant patients were studied that who request childbirth attention at emergency room of the gynecology and obstetrics service were studied; two groups were formed. The first group, 176 patients with term pregnancy in inadequate control with four or less prenatal consultations. The second group, 128 patients with five or more prenatal consultations. All had a fast of at least 4 hours, to take them a sample of blood and to determine the glucose during their entrance with initial childbirth labor. There was difference in the number of consultations that received each group with 1.4 +/- 1.0 consultations for the irregular group and 6.5 +/- 1.1 for the group with regular control. The pregnant ones with no prenatal consultation presented the biggest hyperglycemia percentage, but this percentage diminished as the pregnant ones attended to a bigger number of consultations, since they were detected the dysfunction of glucose on time and they could be treated appropriately. The glycemia was normal in all the patients that had more than 6 prenatal consultations because hyperglycemia was detected in 55 (31.2%) patients of the group with irregular prenatal control, in comparison with 4 (3.1%) of those with appropriate control (p control with a smaller number of prenatal consultations, they have the biggest hyperglycemia percentage, because it was not possible to detect this dysfunction in an opportune way, this situation demonstrates the

  8. The usage and current approaches of cell free fetal DNA (cffDNA as a prenatal diagnostic method in fetal aneuploidy screening

    Directory of Open Access Journals (Sweden)

    Hülya Erbaba

    2015-12-01

    Full Text Available Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT, but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome 1/800, trisomy 13 (Patau syndrome 1 /10,000, trisomy 18 (Edwards syndrome is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test. J Clin Exp Invest 2015; 6 (4: 414-417

  9. Skin-like biosensor system via electrochemical channels for noninvasive blood glucose monitoring

    OpenAIRE

    Chen, Yihao; Lu, Siyuan; Zhang, Shasha; Li, Yan; Qu, Zhe; Chen, Ying; Lu, Bingwei; Wang, Xinyan; Feng, Xue

    2017-01-01

    Currently, noninvasive glucose monitoring is not widely appreciated because of its uncertain measurement accuracy, weak blood glucose correlation, and inability to detect hyperglycemia/hypoglycemia during sleep. We present a strategy to design and fabricate a skin-like biosensor system for noninvasive, in situ, and highly accurate intravascular blood glucose monitoring. The system integrates an ultrathin skin-like biosensor with paper battery–powered electrochemical twin channels (ETCs). The ...

  10. Emerging non-invasive Raman methods in process control and forensic applications.

    Science.gov (United States)

    Macleod, Neil A; Matousek, Pavel

    2008-10-01

    This article reviews emerging Raman techniques (Spatially Offset and Transmission Raman Spectroscopy) for non-invasive, sub-surface probing in process control and forensic applications. New capabilities offered by these methods are discussed and several application examples are given including the non-invasive detection of counterfeit drugs through blister packs and opaque plastic bottles and the rapid quantitative analysis of the bulk content of pharmaceutical tablets and capsules without sub-sampling.

  11. Prenatal programming of childhood overweight and obesity.

    Science.gov (United States)

    Huang, Jennifer S; Lee, Tiffany A; Lu, Michael C

    2007-09-01

    To review the scientific evidence for prenatal programming of childhood overweight and obesity, and discuss its implications for MCH research, practice, and policy. A systematic review of observational studies examining the relationship between prenatal exposures and childhood overweight and obesity was conducted using MOOSE guidelines. The review included literature posted on PubMed and MDConsult and published between January 1975 and December 2005. Prenatal exposures to maternal diabetes, malnutrition, and cigarette smoking were examined, and primary study outcome was childhood overweight or obesity as measured by body mass index (BMI) for children ages 5 to 21. Four of six included studies of prenatal exposure to maternal diabetes found higher prevalence of childhood overweight or obesity among offspring of diabetic mothers, with the highest quality study reporting an odds ratio of adolescent overweight of 1.4 (95% CI 1.0-1.9). The Dutch famine study found that exposure to maternal malnutrition in early, but not late, gestation was associated with increased odds of childhood obesity (OR 1.9, 95% CI 1.5-2.4). All eight included studies of prenatal exposure to maternal smoking showed significantly increased odds of childhood overweight and obesity, with most odds ratios clustering around 1.5 to 2.0. The biological mechanisms mediating these relationships are unknown but may be partially related to programming of insulin, leptin, and glucocorticoid resistance in utero. Our review supports prenatal programming of childhood overweight and obesity. MCH research, practice, and policy need to consider the prenatal period a window of opportunity for obesity prevention.

  12. [Prenatal diagnosis. Review, personal and prospective studies].

    Science.gov (United States)

    Engel, E; Empson, J; DeLozier, D; McGee, B; da Costa Woodson, E; Engel-de Montmollin, M; Carter, T; Lorber, C; Cassidy, S B; Millis, J; Heller, R M; Boehm, F; Vanhooydonk, J

    1979-07-07

    instruments is particularly useful in cases where a severe fetal morphologic malformation cannot currently be identified by indirect visualization (ultrasound) or by analysis of cytogenetic or molecular markers. 6. Pathological accumulations of alpha-fetoprotein which are associated with diverse feto-placental abnormalities (particularly open malformations of the neural tube) can be detected in the amniotic fluid and/or maternal blood. In extension of this approach, it is foreseeable that conditions existing prenatally will be diagnosed in a growing number of cases from the study of fetal cells and molecules which can be isolated from the venous blood of pregnant women. This will become feasible as a result of some well-developed techniques which allow separation of fetal from maternal cells and metabolites, and also to some extremely fine analytic techniques, notably examination of the DNA itself by means of restriction enzymes.

  13. The prenatal roots of music

    Directory of Open Access Journals (Sweden)

    David Ernest Teie

    2016-08-01

    Full Text Available Although the idea that pulse in music may be related to human pulse is ancient and has recently been promoted by researchers (Parncutt, 2006; Snowdon & Teie, 2010, there has been no ordered delineation of the characteristics of music that are based on the sounds of the womb. I describe features of music that are based on sounds that are present in the womb: tempo of pulse (pulse is understood as the regular, underlying beat that defines the meter, amplitude contour of pulse, meter, musical notes, melodic frequency range, continuity, syllabic contour, melodic rhythm, melodic accents, phrase length, and phrase contour. There are a number of features of prenatal development that allow for the formation of long-term memories of the sounds of the womb in the areas of the brain that are responsible for emotions. Taken together, these features and the similarities between the sounds of the womb and the elemental building blocks of music allow for a postulation that the fetal acoustic environment may provide the bases for the fundamental musical elements that are found in the music of all cultures. This hypothesis is supported by a one-to-one matching of the universal features of music with the sounds of the womb: 1 all of the regularly heard sounds that are present in the fetal environment are represented in the music of every culture, and 2 all of the features of music that are present in the music of all cultures can be traced to the fetal environment.

  14. Biological effects of prenatal irradiation

    International Nuclear Information System (INIS)

    Streffer, Christian

    1997-01-01

    After large releases of radionuclides, exposure of the embryo or fetus can take place by external irradiation or uptake of radionuclies. The embryo and fetus are radiosensitive throughout prenatal development. The quality and extent of radiation effects depend on the development stage. During the preimplantation period (one to 10 days postconception, p.c.) a radiation exposure of at least 0.2 Gy can cause the death of the embryo. Malformations are only observed in rare cases when genetic predisposition exist. Macroscopic, anatomical malformations are induced only after irradiation during the major organogenesis (two to eight weeks p.c.). A radiation dose of about 0.2 Gy is a doubling dose for the malformation risks as extrapolated from experiments with rodents. The human embryo may be more radioresistant. During early fetogenesis (8-15 weeks p.c.) a high radiosensitivity exists for the developmental of the brain. Radiation doses of 1.0 Gy cause severe mental retardation in about 40% of the exposed fetuses. It must be taken into account that a radiation exposure during the fetal period can also induce cancer. It is generally assumed that the risk exists at about the same level as for children. (Author)

  15. Noninvasive neuromodulation in migraine and cluster headache.

    Science.gov (United States)

    Starling, Amaal

    2018-06-01

    The purpose of this narrative review is to provide an overview of the currently available noninvasive neuromodulation devices for the treatment of migraine and cluster headache. Over the last decade, several noninvasive devices have undergone development and clinical trials to evaluate efficacy and safety. Based on this body of work, single-pulse transcranial magnetic stimulation, transcutaneous supraorbital neurostimulation, and noninvasive vagal nerve stimulation devices have been cleared by the United States Food and Drug Administration and are available for clinical use for the treatment of primary headache disorders. Overall, these novel noninvasive devices appear to be safe, well tolerated, and have demonstrated promising results in clinical trials in both migraine and cluster headache. This narrative review will provide a summary and update of the proposed mechanisms of action, evidence, safety, and future directions of various currently available modalities of noninvasive neuromodulation for the treatment of migraine and cluster headache.

  16. Noninvasive spectroscopic diagnosis of superficial ocular lesions and corneal infections

    Energy Technology Data Exchange (ETDEWEB)

    Mourant, J.R.; Bigio, I.J.; Johnson, T.; Shimada, T. [Los Alamos National Lab., NM (United States); Gritz, D.C.; Storey-Held, K. [Texas Univ. Health Science Center, San Antonio, TX (United States). Dept. of Ophthalmology

    1994-02-01

    The potential of a rapid noninvasive diagnostic system to detect tissue abnormalities on the surface of the eye has been investigated. The optical scatter signal from lesions and normal areas on the conjunctival sclera of the human eye were measured in vivo. It is possible to distinguish nonpigmented pingueculas from other lesions. The ability of the system to detect malignancies could not be tested because none of the measured and biopsied lesions were malignant. Optical scatter and fluorescence spectra of bacterial and fungal suspensions, and corneal irritations were also collected. Both scattering and fluorescence show potential for diagnosing corneal infections.

  17. Disorganized Cortical Patches Suggest Prenatal Origin of Autism

    Science.gov (United States)

    ... 2014 Disorganized cortical patches suggest prenatal origin of autism NIH-funded study shows disrupted cell layering process ... study suggests that brain irregularities in children with autism can be traced back to prenatal development. “While ...

  18. Informed consent: attitudes, knowledge and information concerning prenatal examination

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; hvidman, lone

    2006-01-01

    Background: Providing women with information enabling an informed consent to prenatal examinations has been widely recommended. Objective: The primary purpose of this review is to summarise current knowledge of the pregnant woman's expectations and attitudes concerning prenatal examinations, as w...

  19. Medicaid reimbursement, prenatal care and infant health.

    Science.gov (United States)

    Sonchak, Lyudmyla

    2015-12-01

    This paper evaluates the impact of state-level Medicaid reimbursement rates for obstetric care on prenatal care utilization across demographic groups. It also uses these rates as an instrumental variable to assess the importance of prenatal care on birth weight. The analysis is conducted using a unique dataset of Medicaid reimbursement rates and 2001-2010 Vital Statistics Natality data. Conditional on county fixed effects, the study finds a modest, but statistically significant positive relationship between Medicaid reimbursement rates and the number of prenatal visits obtained by pregnant women. Additionally, higher rates are associated with an increase in the probability of obtaining adequate care, as well as a reduction in the incidence of going without any prenatal care. However, the effect of an additional prenatal visit on birth weight is virtually zero for black disadvantaged mothers, while an additional visit yields a substantial increase in birth weight of over 20 g for white disadvantaged mothers. Copyright © 2015 Elsevier B.V. All rights reserved.

  20. Noninvasive acceleration measurements to characterize knee arthritis and chondromalacia.

    Science.gov (United States)

    Reddy, N P; Rothschild, B M; Mandal, M; Gupta, V; Suryanarayanan, S

    1995-01-01

    Devising techniques and instrumentation for early detection of knee arthritis and chondromalacia presents a challenge in the domain of biomedical engineering. The purpose of the present investigation was to characterize normal knees and knees affected by osteoarthritis, rheumatoid arthritis, and chondromalacia using a set of noninvasive acceleration measurements. Ultraminiature accelerometers were placed on the skin over the patella in four groups of subjects, and acceleration measurements were obtained during leg rotation. Acceleration measurements were significantly different in the four groups of subjects in the time and frequency domains. Power spectral analysis revealed that the average power was significantly different for these groups over a 100-500 Hz range. Noninvasive acceleration measurements can characterize the normal, arthritis, and chondromalacia knees. However, a study on a larger group of subjects is indicated.

  1. Efficacy of noninvasive modalities of diagnosis of thrombophlebitis

    International Nuclear Information System (INIS)

    Holden, R.W.; Klatte, E.C.; Park, H.M.; Siddiqui, A.R.; Bendick, P.J.; Dilley, R.S.; Glover, J.L.

    1981-01-01

    In a blind prospective study of 158 limbs, Doppler ultrasound, pneumoplethysmography, and radionuclide venography (RNV) using 99 mTc-MAA were compared to phlebography as methods of detecting thrombophlebitis. All three noninvasive modalities were very insensitive to isolated thrombus below the knee. In patients with extension of thrombus above the knee and isolated thrombus in the deep veins of the upper limb, Doppler ultrasound had a sensitivity of 81% and RNV had a sensitivity of 77%. All of the noninvasive modalities were found to be dependent on venous occlusion. Overall, pneumoplethysmography had a sensitivity of 28% and specificity of 96%, compared with 56% and 91%, respectively, for Doppler ultrasound and 51% and 84% for RNV. Based on these findings, phlebography would still seem to be the modality of choice in the diagnosis of thrombophlebitis

  2. Prenatal imaging of amniotic band sequence: utility and role of fetal MRI as an adjunct to prenatal US

    International Nuclear Information System (INIS)

    Neuman, Jeremy; Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Bitters, Constance; Merrow, Arnold C.; Guimaraes, Carolina V.A.; Lim, Foong-Yen

    2012-01-01

    Amniotic band sequence and its US manifestations have been well-described. There is little information, however, regarding the accuracy and utility of fetal MRI. To describe the MRI findings in amniotic band sequence and to compare the diagnostic accuracy of MRI and US. Prenatal MRI and US studies were retrospectively reviewed in 14 consecutive pregnancies with confirmed amniotic band sequence. Both studies were evaluated for amniotic band visualization, body part affected, type of deformity, umbilical cord involvement and vascular abnormality. Amniotic bands were confidently identified with MRI in 8 fetuses (57%), suggested with MRI in 3 fetuses (21%) and confidently seen by US in 13 fetuses (93%). Neither modality detected surgically proven bands on one fetus. Both techniques were equally able to define the body part affected and the type of deformity. At least one limb abnormality was visualized in all cases and truncal involvement was present in two cases. Cord involvement was identified in seven cases, with one case detected only by MRI. Fetal MRI is able to visualize amniotic bands and their secondary manifestations and could be complementary to prenatal US when fetal surgery is contemplated. (orig.)

  3. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

    Science.gov (United States)

    Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly-Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux-Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel-Roy, Camille; Carré-Pigeon, Frédérique; Flori, Elisabeth; Mugneret, Francine; Jaillard, Sylvie; Yardin, Catherine; Harbuz, Radu; Collonge-Rame, Marie-Agnès; Vago, Philippe; Valduga, Mylène; Leporrier, Nathalie; Vialard, François

    2016-06-01

    Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  4. Noninvasive Remote Sensing Techniques for Infrastructures Diagnostics

    Directory of Open Access Journals (Sweden)

    Angelo Palombo

    2011-01-01

    Full Text Available The present paper aims at analyzing the potentialities of noninvasive remote sensing techniques used for detecting the conservation status of infrastructures. The applied remote sensing techniques are ground-based microwave radar interferometer and InfraRed Thermography (IRT to study a particular structure planned and made in the framework of the ISTIMES project (funded by the European Commission in the frame of a joint Call “ICT and Security” of the Seventh Framework Programme. To exploit the effectiveness of the high-resolution remote sensing techniques applied we will use the high-frequency thermal camera to measure the structures oscillations by high-frequency analysis and ground-based microwave radar interferometer to measure the dynamic displacement of several points belonging to a large structure. The paper describes the preliminary research results and discusses on the future applicability and techniques developments for integrating high-frequency time series data of the thermal imagery and ground-based microwave radar interferometer data.

  5. Detection of fetal-specific DNA after enrichment for trophoblasts using the monoclonal antibody LK26 in model systems but failure to demonstrate fetal DNA in maternal peripheral blood

    DEFF Research Database (Denmark)

    Hviid, T V; Sørensen, S; Morling, N

    1999-01-01

    Trophoblast cells can be detected in maternal blood during normal human pregnancy and DNA from these cells may be used for non-invasive prenatal diagnosis of inherited diseases. The possibility of enriching trophoblast cells from maternal blood samples using a monoclonal antibody (LK26) against...... a folate-binding protein, which recognizes trophoblast in normal tissues, in conjunction with immunomagnetic cell sorting was investigated. Verification of the presence of fetal DNA in the sorted samples was done by detection of fetal/paternal-specific short tandem repeat (STR) alleles using polymerase...... on peripheral maternal blood samples. However, it was not possible to detect fetal DNA sequences in these samples, most probably due to the extremely low number of trophoblast cells. Positive identification and retrieval of trophoblast cells in suspension or trophoblast nuclear material prepared on microscope...

  6. The accuracy of 2D ultrasound prenatal sex determination ...

    African Journals Online (AJOL)

    Most of the women were happy even when the sex differed from that which they desired. Conclusion: Prenatal sonographic sex determination has a high sensitivity index. Consequently we advocate its use prior to more invasive sex tests. Keywords: Accuracy, gender determination, prenatal gender, prenatal sex, sex ...

  7. Empowering Women's Prenatal Communication: Does Literacy Matter?

    Science.gov (United States)

    Roter, Debra L; Erby, Lori H; Rimal, Rajiv N; Smith, Katherine C; Larson, Susan; Bennett, Ian M; Cole, Katie Washington; Guan, Yue; Molloy, Matthew; Bienstock, Jessica

    2015-01-01

    This study was designed to evaluate the impact of an interactive computer program developed to empower prenatal communication among women with restricted literacy skills. A total of 83 women seeing 17 clinicians were randomized to a computer-based communication activation intervention (Healthy Babies Healthy Moms [HBHM]) or prenatal education (Baby Basics [BB]) prior to their prenatal visit. Visit communication was coded with the Roter Interaction Analysis System, and postvisit satisfaction was reported. Participants were on average 24 years of age and 25 weeks pregnant; 80% were African American. Two thirds scored ≤8th grade on a literacy screener. Women with literacy deficits were more verbally active, disclosed more medical and psychosocial/lifestyle information, and were rated as more dominant by coders in the HBHM group relative to their counterparts in the BB group (all ps literacy in the HBHM relative to the BB group (p literacy deficits. Satisfaction, however, tended to be lower for these women.

  8. Prenatal diagnosis of lissencephaly: A case report

    Directory of Open Access Journals (Sweden)

    Cerovac Nataša

    2016-01-01

    Full Text Available Introduction. Lissencephaly (“smooth brain” forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. Case report. We presented a case of the prenatal diagnosis of lissencephaly. A 30-year old pregnant woman was reffered to the hospital at the week 35 of gestation for magnetic resonance imaging (MRI after an ultrasound examination demonstrated fetal cerebral ventriculomegaly. Fetal MRI of the brain showed “smooth”, agyrya cortex. The female infant was born at term with birth weight of 2,500 g and Apgar score 8, showing global developmental delay. Postnatal ultrasound and MRI confirmed classical lissencephaly. She is now 8 years old and has spastic quadriparesis, mental retardation and epilepsy. Conclusion. Confirmation of the ultrasound diagnosis with MRI is desirable for the prenatal diagnosis of lissencephaly.

  9. Brain plasticity of rats exposed to prenatal immobilization stress

    Directory of Open Access Journals (Sweden)

    Badalyan B. Yu.

    2011-10-01

    Full Text Available Aim. This histochemical and immunohistochemical study was aimed at examining the brain cellular structures of newborn rats exposed to prenatal immobilization (IMO stress. Methods. Histochemical method on detection of Ca2+-dependent acid phosphatase activity and ABC immunohistochemical technique. Results. Cell structures with radial astrocytes marker GFAP, neuroepithelial stem cell marker gene nestin, stem-cells marker and the hypothalamic neuroprotective proline-rich polypeptide PRP-1 (Galarmin, a natural cytokine of a common precursor to neurophysin vasopressin associated glycoprotein have been revealed in several brain regions. Conclusions. Our findings indicate the process of generation of new neurons in response to IMO and PRP-1 involvement in this recovery mechanism, as PRP-1-Ir was detected in the above mentioned cell structures, as well as in the neurons and nerve fibers.

  10. The human brain. Prenatal development and structure

    International Nuclear Information System (INIS)

    Marin-Padilla, Miguel

    2011-01-01

    This book is unique among the current literature in that it systematically documents the prenatal structural development of the human brain. It is based on lifelong study using essentially a single staining procedure, the classic rapid Golgi procedure, which ensures an unusual and desirable uniformity in the observations. The book is amply illustrated with 81 large, high-quality color photomicrographs never previously reproduced. These photomicrographs, obtained at 6, 7, 11, 15, 18, 20, 25, 30, 35, and 40 weeks of gestation, offer a fascinating insight into the sequential prenatal development of neurons, blood vessels, and glia in the human brain. (orig.)

  11. Prenatal intestinal volvulus: look for cystic fibrosis.

    Science.gov (United States)

    Chouikh, Taieb; Mottet, Nicolas; Cabrol, Christelle; Chaussy, Yann

    2016-12-21

    Intestinal volvulus is a life-threatening emergency requiring prompt surgical management. Prenatal intestinal volvulus is rare, and most are secondary to intestinal atresia, mesenteric defect or without any underlying cause. Cystic fibrosis (CF) is known to cause digestive tract disorders. After birth, 10-15% of newborns with CF may develop intestinal obstruction within a few days of birth because of meconial ileus. 1 This obstruction is a result of dehydrated thickened meconium obstructing the intestinal lumen. We report two cases of fetuses with prenatal diagnosis of segmental volvulus in whom CF was diagnosed. 2016 BMJ Publishing Group Ltd.

  12. The human brain. Prenatal development and structure

    Energy Technology Data Exchange (ETDEWEB)

    Marin-Padilla, Miguel

    2011-07-01

    This book is unique among the current literature in that it systematically documents the prenatal structural development of the human brain. It is based on lifelong study using essentially a single staining procedure, the classic rapid Golgi procedure, which ensures an unusual and desirable uniformity in the observations. The book is amply illustrated with 81 large, high-quality color photomicrographs never previously reproduced. These photomicrographs, obtained at 6, 7, 11, 15, 18, 20, 25, 30, 35, and 40 weeks of gestation, offer a fascinating insight into the sequential prenatal development of neurons, blood vessels, and glia in the human brain. (orig.)

  13. Real-time non-invasive eyetracking and gaze-point determination for human-computer interaction and biomedicine

    Science.gov (United States)

    Talukder, Ashit; Morookian, John-Michael; Monacos, S.; Lam, R.; Lebaw, C.; Bond, A.

    2004-01-01

    Eyetracking is one of the latest technologies that has shown potential in several areas including human-computer interaction for people with and without disabilities, and for noninvasive monitoring, detection, and even diagnosis of physiological and neurological problems in individuals.

  14. Skin-like biosensor system via electrochemical channels for noninvasive blood glucose monitoring.

    Science.gov (United States)

    Chen, Yihao; Lu, Siyuan; Zhang, Shasha; Li, Yan; Qu, Zhe; Chen, Ying; Lu, Bingwei; Wang, Xinyan; Feng, Xue

    2017-12-01

    Currently, noninvasive glucose monitoring is not widely appreciated because of its uncertain measurement accuracy, weak blood glucose correlation, and inability to detect hyperglycemia/hypoglycemia during sleep. We present a strategy to design and fabricate a skin-like biosensor system for noninvasive, in situ, and highly accurate intravascular blood glucose monitoring. The system integrates an ultrathin skin-like biosensor with paper battery-powered electrochemical twin channels (ETCs). The designed subcutaneous ETCs drive intravascular blood glucose out of the vessel and transport it to the skin surface. The ultrathin (~3 μm) nanostructured biosensor, with high sensitivity (130.4 μA/mM), fully absorbs and measures the glucose, owing to its extreme conformability. We conducted in vivo human clinical trials. The noninvasive measurement results for intravascular blood glucose showed a high correlation (>0.9) with clinically measured blood glucose levels. The system opens up new prospects for clinical-grade noninvasive continuous glucose monitoring.

  15. Management of critically ill patients receiving noninvasive and invasive mechanical ventilation in the emergency department

    Directory of Open Access Journals (Sweden)

    Rose L

    2012-03-01

    Full Text Available Louise RoseLawrence S Bloomberg Faculty of Nursing, University of Toronto, Toronto, Ontario, CanadaAbstract: Patients requiring noninvasive and invasive ventilation frequently present to emergency departments, and may remain for prolonged periods due to constrained critical care services. Emergency clinicians often do not receive the same education on management of mechanical ventilation or have similar exposure to these patients as do their critical care colleagues. The aim of this review was to synthesize the evidence on management of patients requiring noninvasive and invasive ventilation in the emergency department including indications, clinical applications, monitoring priorities, and potential complications. Noninvasive ventilation is recommended for patients with acute exacerbation of chronic obstructive pulmonary disease or cardiogenic pulmonary edema. Less evidence supports its use in asthma and other causes of acute respiratory failure. Use of noninvasive ventilation in the prehospital setting is relatively new, and some evidence suggests benefit. Monitoring priorities for noninvasive ventilation include response to treatment, respiratory and hemodynamic stability, noninvasive ventilation tolerance, detection of noninvasive ventilation failure, and identification of air leaks around the interface. Application of injurious ventilation increases patient morbidity and mortality. Lung-protective ventilation with low tidal volumes based on determination of predicted body weight and control of plateau pressure has been shown to reduce mortality in patients with acute respiratory distress syndrome, and some evidence exists to suggest this strategy should be used in patients without lung injury. Monitoring of the invasively ventilated patient should focus on assessing response to mechanical ventilation and other interventions, and avoiding complications, such as ventilator-associated pneumonia. Several key aspects of management of noninvasive

  16. Diastrophic dysplasia: prenatal diagnosis and review of the literature

    Directory of Open Access Journals (Sweden)

    Jonathan Celli Honório

    Full Text Available CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene. Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions and mesomelia (shortening of the intermediate portions. Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C > T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature.

  17. Prenatal typing of Rh and Kell blood group system antigens: the edge of a watershed.

    Science.gov (United States)

    van der Schoot, C Ellen; Tax, G H Martine; Rijnders, Robbert J P; de Haas, Masja; Christiaens, Godelieve C M L

    2003-01-01

    Knowledge of the molecular basis of the blood group systems has enabled the development of assays for blood group genotyping. At this time, polymerase chain reaction (PCR)-based assays validated on fetal material obtained by invasive means (chorionic villus sampling or amniocentesis) are available for all clinically relevant fetal blood groups, However, only Rh typing (D, C, c, E, and e) and K1 genotyping assays are discussed in this review. Importantly, one must remember that results of genotyping assays will not always be concordant with serological typing. Thus, the RhD genotyping assays have to be modified in response to increased understanding of the molecular biology of this blood group system. RhD typing assays should produce negative results when tested on the black RhD-negative RHD alleles, RHDpsi and r's. PCR-based assays can be used to determine paternal zygosity. For RhD zygosity testing, the real-time quantitative PCR approach and the direct detection of the hybrid Rhesus box, which is the result of the deletion of the RHD gene are available. Recently, methods for noninvasive prenatal genotyping have been investigated. The use of fetal cells circulating in the maternal circulation has been explored; however, the scarcity of circulating fetal cells has limited the use of this approach. More promising are the results obtained with RhD typing assays with cell-free fetal DNA, which is present in the maternal circulation in a concentration of 25 genomic equivalents per milliliter of maternal blood in early pregnancy increasing to 100 copies per milliliter in the third trimester, which is cleared from the circulation within a few hours of delivery. The positive predictive value of this approach is virtually 100%, but false-negative results are (infrequently) encountered. Therefore, this assay can at present only be used for screening of RhD-negative women to make the use of antenatal prophylaxis more targeted and hence more cost-effective. For the clinical

  18. [Prenatal management of isolated IUGR].

    Science.gov (United States)

    Senat, M-V; Tsatsaris, V

    2013-12-01

    To evaluate the performance of different antenatal tools for the monitoring of fetuses with isolated intrauterine growth restriction (IUGR). To define the prenatal management of IUGR and indications for delivery before and after 32 weeks of gestation. PubMed, Embase and the Cochrane databases were searched using the keywords "IUGR", "fetal growth restriction", "cardiotocography", "amniotic fluid", "ultrasound assessment", "biophysical profile", "Doppler ultrasonography", "randomized trial", "meta-analysis". These terms were also combined together. Fetal monitoring of isolated IUGR should be based on the combined use of fetal heart rate (FHR) and ultrasound Doppler. The use of computerized FHR, with short-term variability (STV) measurement allows longitudinal monitoring and provides objective values upon which to decide very premature delivery (LE3). The use of umbilical Doppler is associated with a decrease in perinatal morbidity, especially in IUGR (LE1). It should be the first-line mean for the monitoring of SGA and IUGR fetuses (LE1). The additional use of cerebral Doppler is associated with a better predictive value for a poor perinatal outcome than the umbilical Doppler alone (LE3). Therefore, cerebral Doppler should be used in fetuses with IUGR, whether the umbilical Doppler is normal or not. As morbidity and mortality is increased in IUGR with pathological ductus venosus, the use of this Doppler should be considered in the monitoring of IUGR at before 32 weeks (professional consensus). Routine hospitalization is not mandatory for the monitoring of fetuses with IUGR/SGA. However, tertiary referral is advisable in cases of severe IUGR at between 26 to 32 weeks (professional consensus). The decision for delivery cannot be standardized and should be based on the combined analysis of gestational age, fetal heart rate analysis and Doppler study (professional consensus). Monitoring of fetuses with IUGR and decision for delivery should be based on the combined

  19. Non-invasive genetic censusing and monitoring of primate populations.

    Science.gov (United States)

    Arandjelovic, Mimi; Vigilant, Linda

    2018-03-01

    Knowing the density or abundance of primate populations is essential for their conservation management and contextualizing socio-demographic and behavioral observations. When direct counts of animals are not possible, genetic analysis of non-invasive samples collected from wildlife populations allows estimates of population size with higher accuracy and precision than is possible using indirect signs. Furthermore, in contrast to traditional indirect survey methods, prolonged or periodic genetic sampling across months or years enables inference of group membership, movement, dynamics, and some kin relationships. Data may also be used to estimate sex ratios, sex differences in dispersal distances, and detect gene flow among locations. Recent advances in capture-recapture models have further improved the precision of population estimates derived from non-invasive samples. Simulations using these methods have shown that the confidence interval of point estimates includes the true population size when assumptions of the models are met, and therefore this range of population size minima and maxima should be emphasized in population monitoring studies. Innovations such as the use of sniffer dogs or anti-poaching patrols for sample collection are important to ensure adequate sampling, and the expected development of efficient and cost-effective genotyping by sequencing methods for DNAs derived from non-invasive samples will automate and speed analyses. © 2018 Wiley Periodicals, Inc.

  20. Noninvasive Stimulation of the Human Brain

    DEFF Research Database (Denmark)

    Di Lazzaro, Vincenzo; Rothwell, John; Capogna, Marco

    2017-01-01

    Noninvasive brain stimulation methods, such as transcranial electric stimulation and transcranial magnetic stimulation are widely used tools for both basic research and clinical applications. However, the cortical circuits underlying their effects are poorly defined. Here we review the current...

  1. Noninvasive ventilation in hypoxemic respiratory failure

    Directory of Open Access Journals (Sweden)

    Raja Dhar

    2016-01-01

    Full Text Available Noninvasive ventilation (NIV refers to positive pressure ventilation delivered through a noninvasive interface (nasal mask, facemask, or nasal plugs etc. Over the past decade its use has become more common as its benefits are increasingly recognized. This review will focus on the evidence supporting the use of NIV in various conditions resulting in acute hypoxemic respiratory failure (AHRF, that is, non-hypercapnic patients having acute respiratory failure in the absence of a cardiac origin or underlying chronic pulmonary disease. Outcomes depend on the patient's diagnosis and clinical characteristics. Patients should be monitored closely for signs of noninvasive ventilation failure and promptly intubated before a crisis develops. The application of noninvasive ventilation by a trained and experienced team, with careful patient selection, should optimize patient outcomes.

  2. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family

    OpenAIRE

    Chih-Ping Chen; Shuenn-Dyh Chang; Tzu-Hao Wang; Liang-Kai Wang; Jeng-Daw Tsai; Yu-Peng Liu; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Yu-Ting Chen; Wayseen Wang

    2013-01-01

    Objective: This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. Materials and Methods: A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woma...

  3. Prenatal care: associations with prenatal depressive symptoms and social support in low-income urban women.

    Science.gov (United States)

    Sidebottom, Abbey C; Hellerstedt, Wendy L; Harrison, Patricia A; Jones-Webb, Rhonda J

    2017-10-01

    We examined associations of depressive symptoms and social support with late and inadequate prenatal care in a low-income urban population. The sample was prenatal care patients at five community health centers. Measures of depressive symptoms, social support, and covariates were collected at prenatal care entry. Prenatal care entry and adequacy came from birth certificates. We examined outcomes of late prenatal care and less than adequate care in multivariable models. Among 2341 study participants, 16% had elevated depressive symptoms, 70% had moderate/poor social support, 21% had no/low partner support, 37% had late prenatal care, and 29% had less than adequate prenatal care. Women with both no/low partner support and elevated depressive symptoms were at highest risk of late care (AOR 1.85, CI 1.31, 2.60, p care (AOR 0.74, CI 0.54, 1.10, p = 0.051). Women with moderate/high depressive symptoms were less likely to experience less than adequate care compared to women with low symptoms (AOR 0.73, CI 0.56, 0.96, p = 0.022). Social support and partner support were negatively associated with indices of prenatal care use. Partner support was identified as protective for women with depressive symptoms with regard to late care. Study findings support public health initiatives focused on promoting models of care that address preconception and reproductive life planning. Practice-based implications include possible screening for social support and depression in preconception contexts.

  4. The Use of Gas-Sensor Arrays in the Detection of Bole and Root Decays in Living Trees: Development of a New Non-invasive Method of Sampling and Analysis

    Directory of Open Access Journals (Sweden)

    Manuela BAIETTO

    2015-10-01

    Full Text Available Wood rot is a serious fungal disease of trees. Wood decay fungi penetrate and gain entry into trees through pruning cuts or open wounds using extracellular digestive enzymes to attack all components of the cell wall, leading to the destruction of sapwood which compromises wood strength and stability. On living trees, it is often difficult to diagnose wood rot disease, particularly during extreme weather conditions when trees can fail, causing tree parts to fall onto people and property. Today, tree stability evaluation and inner decay detection are performed visually and by the use of commercial instruments and methods that are often invasive, time-consuming and sometimes inadequate for use within the urban environment. Moreover, most conventional instruments do not provide an adequate evaluation of decay that occurs in the root system. A long-term research project, initiated in 2004, was aimed at developing a novel approach for diagnosing inner tree decays by detecting differences in volatile organic compounds (VOCs released by wood decay fungi and wood from healthy and decayed trees. Different commercial electronic noses (ENs were tested under laboratory conditions and directly in the field, on healthy and artificially-inoculated stem wood chips, and root fragments. The first stage of the research was focused on testing different commercially available electronic noses (e-noses for the capabilities of discriminating between different strains and species of wood decay fungi as well as sapwood belonging to different tree species. In the second stage, sapwood of different tree species was artificially inoculated with decay fungi to test the diagnostic ability of the e-noses to detect differences in aroma bouquets emitted by healthy and inoculated woods. Root fragments were then inoculated with specific root decaying fungi and incubated under different types of soils to assess whether soil odors could influence the ability of the e-nose to

  5. In-gel detection of esterase-like albumin activity: Characterization of esterase-free sera albumin and its putative role as non-invasive biomarker of hepatic fibrosis

    Directory of Open Access Journals (Sweden)

    Areeba Ahmad

    2017-07-01

    Full Text Available Albumin is a globular and un-glycosylated multifunctional plasma protein and thus correlated with several human diseases. Owing to esterase contamination, albumin levels are usually misleading. In this study, we propose methodical accuracy for albumin estimation taking healthy and fibrotic rats. Liver fibrosis in rats was generated by N′-Nitrosodimethylamine (NDMA (10 mg/kg body weight within three weeks followed by its confirmation through H&E and immunohistochemical staining for α-SMA expression. Animal sera were screened by native polyacrylamide gel electrophoresis (native-PAGE (7.5%. In-gel esterase-like albumin activity was detected using α- and β-naphthyl acetate (5.58 × 10−3 mM; pH 7.5 as substrate. Sera albumin was purified from unstained PA gel-slices through electroelution. Subsequent to conformation of albumin purity by its molecular weight determination using SDS–PAGE (10% and peptide mass fingerprinting by MALDI-TOF-MS, samples were treated with different concentrations of urea. Urea-treated albumins were screened for esterase activity, conformational change and, albumin levels by immunoblotting. Our results demonstrate that esterase-like albumin activity in rat sera albumin is located in domain-III. The esterase-like activity remains detectable up to 4 M urea, which diminishes with increasing urea concentrations. Further, immunoblotting of urea-treated albumin samples displays a significant decline in purified protein bands, indicating hypoalbuminemia during hepatic fibrosis in rats. In conclusion, the present approach of albumin separation and estimation is of potential interest and may be recommended for diagnostic purposes.

  6. Developmental Programming: Prenatal and Postnatal Androgen Antagonist and Insulin Sensitizer Interventions Prevent Advancement of Puberty and Improve LH Surge Dynamics in Prenatal Testosterone-Treated Sheep

    OpenAIRE

    Padmanabhan, Vasantha; Veiga-Lopez, Almudena; Herkimer, Carol; Abi Salloum, Bachir; Moeller, Jacob; Beckett, Evan; Sreedharan, Rohit

    2015-01-01

    Prenatal T excess induces maternal hyperinsulinemia, early puberty, and reproductive/metabolic defects in the female similar to those seen in women with polycystic ovary syndrome. This study addressed the organizational/activational role of androgens and insulin in programming pubertal advancement and periovulatory LH surge defects. Treatment groups included the following: 1) control; 2) prenatal T; 3) prenatal T plus prenatal androgen antagonist, flutamide; 4) prenatal T plus prenatal insuli...

  7. Follow-up studies in prenatal medicine

    NARCIS (Netherlands)

    Nagel, Hélène Theodora Catharina

    2007-01-01

    With the availability of prenatal diagnostics in the last century, the fetus became a patient. Obstetricians looked togheter with neonatologist and pediatric surgeons, who in the past needed to treat sick neonates, for an earlier moment of treatment. An example of such a shift towards an earlier

  8. Prenatal Cocaine Exposure and Infant Cortisol Reactivity

    Science.gov (United States)

    Eiden, Rina D.; Veira, Yvette; Granger, Douglas A.

    2009-01-01

    This study examined the effects of prenatal cocaine exposure on infant hypothalamic-pituitary-adrenal axis activity and reactivity at 7 months of infant age. Participants were 168 caregiver-infant dyads (87 cocaine exposed, 81 not cocaine exposed; 47% boys). Maternal behavior, caregiving instability, and infant growth and behavior were assessed,…

  9. Effect of brain prenatal irradiations (review)

    International Nuclear Information System (INIS)

    Nyagu, A.I.; Loganovskij, K.N.; Loganovskaya, T.K.

    1998-01-01

    Tendency of intellectual deficiency and emotion disturbance among children which were irradiated in womb was found. Study of the risk of endogenic psychic disorder development and, first of all, schizophrenia in pre-natally irradiated children, as a result of Chernobyl catastrophe, is of special interest. 256 refs., 1 tab

  10. Ultrasound demonstration of prenatal renal vein thrombosis

    International Nuclear Information System (INIS)

    Sanders, L.D.; Jequier, S.

    1989-01-01

    This case report illustrates the sonographic appearance of such calcifications which to our knowledge have not been described. We observed abnormalities on a prenatal ultrasound at 37 weeks of gestation and calcifications within the kidney on ultrasound during the neonatal period in an infant of a mother with Class B diabetes mellitus. (orig.)

  11. Prenatal risk indicators of a prolonged pregnancy

    DEFF Research Database (Denmark)

    Olesen, Annette Wind; Westergaard, Jes Grabow; Olsen, Jørn

    2006-01-01

    BACKGROUND: Few prenatal risk factors of prolonged pregnancy, a pregnancy of 42 weeks or more, are known. The objective was to examine whether sociodemographic, reproductive, toxicologic, or medical health conditions were associated with the risk of prolonged pregnancy. METHODS: Data from...

  12. Prenatal Cell-Free DNA Screening

    Science.gov (United States)

    ... poses no physical risks for you or your baby. While prenatal cell-free DNA screening might cause anxiety, it might help you avoid the need for more invasive tests, treatment or monitoring during your pregnancy. Keep in mind, however, that ...

  13. Prenatal nutrition and early childhood behaviour

    NARCIS (Netherlands)

    J.C.J. Steenweg-de Graaff (Jolien)

    2015-01-01

    markdownabstractThis thesis focuses on the relation between maternal nutrition during pregnancy and offspring emotional and behavioural development within the general population. The studies described in this thesis explore whether the maternal prenatal diet as a whole, as well as maternal blood

  14. Evaluation of prenatal hydronephrosis: novel criteria for predicting vesicoureteral reflux on ultrasonography.

    Science.gov (United States)

    Lee, Nora G; Rushton, H Gil; Peters, Craig A; Groves, Danja S; Pohl, Hans G

    2014-09-01

    Radiographic evaluation for prenatal hydronephrosis often includes voiding cystourethrography to ascertain whether vesicoureteral reflux is present. We sought to determine whether use of voiding cystourethrography could be limited to those patients at greatest risk for vesicoureteral reflux. We hypothesized that vesicoureteral reflux could be predicted by findings on renal/bladder ultrasonography of hydroureter, renal dysmorphia and/or duplication. We reviewed the records of patients with prenatal hydronephrosis who underwent initial postnatal ultrasonography and voiding cystourethrography during a 3-year period. The presence of vesicoureteral reflux on voiding cystourethrogram was correlated to ultrasound findings, including hydronephrosis grade, presence of hydroureter, renal dysmorphia or duplication, with ultrasound considered positive for any of the latter 3 findings. Of 262 patients 47 (18%) had vesicoureteral reflux. Ultrasound was positive in 24 of 29 patients (83%) with high grade reflux and 12 of 18 (67%) with low grade reflux. If ultrasonography showed any of the 3 positive findings, the odds ratio of detecting vesicoureteral reflux was 8.07 (95% CI 3.86, 16.87). Using these criteria, among all cases of prenatal hydronephrosis 5 (2%) with high grade vesicoureteral reflux and 6 (2%) with low grade reflux would have been missed. Among the 47 cases of reflux overall 5 of 29 high grade (17%) and 6 of 18 low grade cases (33%) would have been missed. By using ultrasonography criteria of hydroureter, duplication and renal dysmorphia for patients with prenatal hydronephrosis, vesicoureteral reflux can be detected more specifically. Using our criteria, 165 of 262 voiding cystourethrograms (63%) could have been avoided in patients with prenatal hydronephrosis during a 3-year period. Reducing these evaluations may decrease risks regarding radiation exposure, family anxiety and health care costs. Copyright © 2014 American Urological Association Education and

  15. What does magnetic resonance imaging add to the prenatal ultrasound diagnosis of facial clefts?

    Science.gov (United States)

    Mailáth-Pokorny, M; Worda, C; Krampl-Bettelheim, E; Watzinger, F; Brugger, P C; Prayer, D

    2010-10-01

    Ultrasound is the modality of choice for prenatal detection of cleft lip and palate. Because its accuracy in detecting facial clefts, especially isolated clefts of the secondary palate, can be limited, magnetic resonance imaging (MRI) is used as an additional method for assessing the fetus. The aim of this study was to investigate the role of fetal MRI in the prenatal diagnosis of facial clefts. Thirty-four pregnant women with a mean gestational age of 26 (range, 19-34) weeks underwent in utero MRI, after ultrasound examination had identified either a facial cleft (n = 29) or another suspected malformation (micrognathia (n = 1), cardiac defect (n = 1), brain anomaly (n = 2) or diaphragmatic hernia (n = 1)). The facial cleft was classified postnatally and the diagnoses were compared with the previous ultrasound findings. There were 11 (32.4%) cases with cleft of the primary palate alone, 20 (58.8%) clefts of the primary and secondary palate and three (8.8%) isolated clefts of the secondary palate. In all cases the primary and secondary palate were visualized successfully with MRI. Ultrasound imaging could not detect five (14.7%) facial clefts and misclassified 15 (44.1%) facial clefts. The MRI classification correlated with the postnatal/postmortem diagnosis. In our hands MRI allows detailed prenatal evaluation of the primary and secondary palate. By demonstrating involvement of the palate, MRI provides better detection and classification of facial clefts than does ultrasound alone. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

  16. [PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis].

    Science.gov (United States)

    Bai, Y; Liu, N; Kong, X D; Yan, J; Qin, Z B; Wang, B

    2016-12-07

    Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods: PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping. Results: A heterozygous PAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family, and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal. Molecular studies identified a novel deletion mutation c. 1385_1386delCT within the PAX3 gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals. Conclusions: PAX3 gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.

  17. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

    Science.gov (United States)

    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

  18. Biogenic amines, amino acids and regional blood flow in rat brain after prenatal irradiation

    International Nuclear Information System (INIS)

    Deroo, J.; Gerber, G.B.; Maes, J.

    1986-01-01

    Damage to nerve cells after prenatal irradiation could affect their later ability to function normally. The concentration of several biogenic amines and amino acids was therefore determined at different times after prenatal irradiation with 0.95 Gy on day 10, 12 or 15 of pregnancy. The offspring was sacrified 0.5, 1, 3 and 6 months after birth and the following structures were dissected: Cortex, hippocampus, striatum, thalamus, hypothalamus, cerebellum and medulla. Biogenic amines isolated by HPLC and detected electrochemically were: Dopamine, DOPA, DOPAC, epinephrine, norepinephrine, serotonin and hydroxyindolacetate. Amino acids converted to their dansyl derivatives and separated by HPLC were: Aspartate, glutamate, glutamine, gamma aminobutyrate and taurine. Many neurotransmitters were found increased in brain after prenatal irradiation, particularly on day 12 and 15 p.c. Marked changes were found for serotonin in several brain structures and for dopamin in striatum. An increase was also found in glutamate, glutamine and GABA. Studies on regional blood flow using injection of labelled 15 μ microspheres did not reveal significant alterations after prenatal irradiation. (orig.)

  19. A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.

    Science.gov (United States)

    Lee, Hwa Jeen; Park, Seungman; Kang, Hyoung Jin; Jun, Jong Kwan; Lee, Jung Ae; Lee, Dong Soon; Park, Sung Sup; Seong, Moon-Woo

    2012-09-01

    Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The FANCA mutations were separately inherited from each parent, c.2546delC was derived from the father, whereas c.3627-1G>A originated from the mother. The amniotic fluid cells were c.3627-1G>A heterozygotes, suggesting that the fetus was unaffected. This is the first report of genetic testing that was successfully applied to molecular diagnosis of a patient and subsequent prenatal diagnosis of FA in a family in Korea.

  20. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    Science.gov (United States)

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.