Bibliografie tematiche / Prenatal diagnosis

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Letteratura scientifica selezionata sul tema "Prenatal diagnosis"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 30 luglio 2024

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Articoli di riviste sul tema "Prenatal diagnosis"

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Gorbunov, D. V., e L. S. Abikeeva. "Prenatal diagnosis of critical congenital heart defects in Kazakhstan: a single-center 8 years’ experience". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 67, n. 5 (18 novembre 2022): 96–102. http://dx.doi.org/10.21508/1027-4065-2022-67-5-96-102.

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Purpose. To give a quantitative and qualitative assessment of the results of prenatal diagnosis of critical congenital heart defects in the Republic of Kazakhstan based on the treatment of newborns at the head cardiac surgery center.Methods. A retrospective analysis of the medical records of 511 newborns with critical congenital heart defects treated at the National Research Cardiac Surgery Center (NRCSC) in 2012–2019 was performed. The proportion of those operated on was 474/511 (92.8%). The studied parameters were the presence of prenatal diagnosis of critical congenital heart defects (yes/no); prenatal diagnosis formulation; postnatal diagnosis formulation; discrepancy between pre- and postnatal diagnoses (yes/no); for a prenatally diagnosed newborn — the gestational age at the time of the diagnosis and the region where the diagnosis was firstly made.Results. Prenatally, 297/511 (58.1%) newborns were diagnosed. The rate of discrepancies between pre- and postnatal diagnoses was 62/288 (21.5%). According to the timing of the prenatal diagnosis, newborns were distributed as follows: first trimester screening — 20/272 (7.4%), second trimester screening — 139/272 (51.1%), third trimester screening — 113/272 (41.5%). Up to 22 weeks of gestation, 71/272 (26.1%) patients were diagnosed. Among the newborns treated at the NRCSC, the proportion of those diagnosed prenatally in different regions of the Kazakhstan varies from 20% to 100%.Conclusions. 1) Prenatal diagnosis of critical congenital heart defects is carried out in all regions of Kazakhstan, providing an acceptable level of detection; 2) in half of the cases, critical congenital heart defects are diagnosed during the second screening, however, there is an experience of their accurate detection as early as during the first screening; 3) individually, doctors of ultrasound diagnostics in Kazakhstan apply an extended protocol for examining the fetal heart; 4) a significant proportion of fetuses diagnosed before the 22nd week of gestation shows the choice of families in favor of carrying of a pregnancy when a critical congenital heart defects is detected; 5) the greatest difficulty for prenatal diagnosis is presented by patients with total anomalous pulmonary veins return.
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ACAR, Züat, Işıl TURAN BAKIRCI, Deniz Kanber ACAR e Helen BORNAUN. "Prenatal diagnosis and clinical outcomes of isolated interruption of the inferior vena cava: an analysis of 12 cases". Journal of Medicine and Palliative Care 4, n. 5 (27 ottobre 2023): 530–34. http://dx.doi.org/10.47582/jompac.1358089.

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Abstract (sommario):
Objectives: This study aimed to comprehensively investigate the clinical manifestations and outcomes of prenatally diagnosed isolated interrupted inferior vena cava (IIVC) with azygos continuation to shed light on the significance of prenatal diagnosis. Methods: A longitudinal study involved 12 fetuses prenatally diagnosed with IIVC and azygos continuation. Detailed fetal anomaly scans and echocardiography were performed, and pediatric cardiologists confirmed postnatal diagnoses. Genetic testing and extensive follow-ups were also performed. Results: The study confirmed the high diagnostic accuracy of prenatal identification, with 100% postnatal confirmation. Most patients exhibited favorable outcomes, emphasizing the importance of prenatal diagnosis. Genetic testing revealed normal chromosomal arrangements in all tested cases. Conclusion: Our study underscores the vital role of prenatal diagnosis in managing isolated IIVC cases and highlights their generally favorable prognosis. This study contributes to understanding this rare vascular anomaly and its implications for clinical practice.
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DiLiberti, J. H., M. A. Greenstein e S. S. Rosengren. "Prenatal Diagnosis". Pediatrics in Review 13, n. 9 (1 settembre 1992): 334–42. http://dx.doi.org/10.1542/pir.13-9-334.

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Begum, Rashida. "Prenatal Diagnosis". Bangladesh Journal of Obstetrics & Gynaecology 31, n. 2 (12 ottobre 2017): 61–62. http://dx.doi.org/10.3329/bjog.v31i2.34211.

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Baumiller, Robert. "Prenatal Diagnosis". Ethics & Medics 20, n. 11 (1995): 3–4. http://dx.doi.org/10.5840/em1995201122.

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Hafner, Erich. "Prenatal diagnosis". Hamdan Medical Journal 5, n. 3 (2012): 213. http://dx.doi.org/10.7707/hmj.v5i3.196.

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DiLiberti, John H., Mark A. Greenstein e Sally Shulman Rosengren. "Prenatal Diagnosis". Pediatrics In Review 13, n. 9 (1 settembre 1992): 334–42. http://dx.doi.org/10.1542/pir.13.9.334.

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Abstract (sommario):
The enormous progress witnessed in the field of prenatal diagnosis during the past two decades is likely to continue into the future. Improved imaging techniques are likely to enhance the resolution of noninvasively obtained fetal images considerably over their current excellent quality. Although this undoubtedly will be true for ultrasonography, the increased speed of magnetic resonance equipment may offer a new realm of imaging possibilities. Computerized image processing, analysis, and three-dimensional reconstructions all should make interpretation of fetal images easier and more understandable to the nonspecialist. Advances in molecular genetics will continue to accelerate, greatly expanding the range and accuracy of prenatal diagnosis. The alert pediatrician who is sensitive to genetic issues may, by early detection of pediatric disorders and careful family history assessment, be in a position to identify families at risk for serious genetic conditions and provide the opportunity to make informed decisions on reproductive options that avert a major tragedy. The pediatrician, working with obstetric colleagues, should be part of a team effort to support families going through prenatal testing. Familiarity with these rapidly changing technologies will make it far easier to support the family needing additional explanation about prenatal diagnosis issues.
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Texler, K. C. "Prenatal diagnosis". Medical Journal of Australia 152, n. 3 (febbraio 1990): 149. http://dx.doi.org/10.5694/j.1326-5377.1990.tb125125.x.

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Lippman, A. "Prenatal diagnosis." American Journal of Public Health 89, n. 10 (ottobre 1999): 1592–93. http://dx.doi.org/10.2105/ajph.89.10.1592.

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WILLIAMSON, ROGER A. "PRENATAL DIAGNOSIS". Clinical Obstetrics and Gynecology 31, n. 2 (giugno 1988): 231. http://dx.doi.org/10.1097/00003081-198806000-00003.

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Tesi sul tema "Prenatal diagnosis"

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Overton, Timothy Graeme. "Minimally invasive prenatal diagnosis". Thesis, Imperial College London, 2000. http://hdl.handle.net/10044/1/7869.

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Турова, Людмила Олександрівна, Людмила Александровна Турова, Liudmyla Oleksandrivna Turova e W. A. Alsaedi. "New methods in prenatal diagnosis". Thesis, Сумський державний університет, 2013. http://essuir.sumdu.edu.ua/handle/123456789/32308.

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Abstract (sommario):
The development of genotyping and sequencing techniques has been dramatic during the recent years. Now it is possible to obtain a full view over an individual’ s genetic landscape in the form of a million common single-nucleotide polymorphisms (SNPs) in single and affordable experiments. When you are citing the document, use the following link http://essuir.sumdu.edu.ua/handle/123456789/32308
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Crang-Svalenius, Elizabeth. "The use of routine ultrasound in pregnancy with special reference to normal and abnormal foetal growth, information and informed choice and the womens' experiences of the prenatal diagnostic aspects /". Lund : Lund University, Dept. of Obstetrics and Gynaecology, University Hospital, 1997. http://catalog.hathitrust.org/api/volumes/oclc/39072830.html.

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Leung, Kwok-yin, e 梁國賢. "Prenatal ultrasound prediction of homozygous α⁰-thalassemia". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B47454039.

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Abstract (sommario):
Homozygous α0-thalassemia is a serious autosomal recessive disorder with poor fetal outcome and severe maternal complications. Conventionally, prenatal diagnosis is performed by an invasive test. A non-invasive approach using serial ultrasonography can effectively reduce the need for invasive tests in unaffected pregnancies. For two-dimensional ultrasound prediction, a total of 777 at-risk fetuses were studied from 12 to 20 weeks between 1995 and 2006. At 12–15 weeks’ gestation, the highest sensitivity (98.3%) was achieved by the combination of fetal cardiothoracic ratio (CTR) and/or middle cerebral artery peak systolic velocity (MCA-PSV) at a false-positive rate of 15.8%. At 16–20 weeks’ gestation, the sensitivity of CTR was 100.0%, but the false-positive rate was 5.2%. In contrast, the false-positive rate of MCA-PSV alone was 1.4% and that of the combination of CTR and MCA-PSV was 0%, although their sensitivities were less than 65%. In a cross-sectional retrospective study of 546 samples at-risk and control (268 fetal and 278 neonatal cord blood), the degree of anemia was only mild in 27.5% of the affected fetuses (see chapter 3 for definition of mild anemia). Because MCA-PSV is not very predictive of mild anemia, this may be one of the reasons why MCA-PSV is not very sensitive in predicting an affected pregnancy. A total of 832 at-risk pregnancies were studied using same noninvasive approach at Maternal and Neonatal Hospital of Guangzhou (MNH) and Tsan Yuk Hospital (TYH). The overall sensitivity and specificity of the noninvasive approach was 100% and 95.6% respectively. At MNH, the need for an invasive test was reduced by 78.6%, and all the affected pregnancies were diagnosed before 24 weeks’ gestation. After adequate training and monitoring the quality of the subsequent ultrasound examinations, the results achieved at MNH were comparable to TYH, with at-risk pregnancies including the affected ones being seen at a more advanced gestation at MNH. In a retrospective review of 361 women at risk of carrying an affected fetus, 311 (86.2%) opted for the non-invasive approach using CTR and/or placenta. The cost saving of this non-invasive approach was relatively small (HK$ 2,651) in comparison to the cost of the whole prenatal screening program. On the other hand, the non-invasive approach was more expensive than the direct invasive approach for low MCV couples, as well as couples discordant for α-thalassemia and β-thalassemia. ages. These results support the adoption of non-invasive approach in which routine invasive test or karyotyping is no longer performed. A total of 106 at-risk pregnancies and normal controls were prospectively studied using three-dimensional ultrasonography. Placental volume (PV) at 11-14 weeks, and PV/CRL quotient at 9-14 weeks’ gestation of affected pregnancies were significantly greater than unaffected pregnancies (P<0.05). Using a cut-off point of 1.2ml/mm for PV/CRL quotient to predict an affected pregnancy, the sensitivity, and specificity was 96.2%, and 100.0% respectively.
published_or_final_version
Obstetrics and Gynaecology
Master
Doctor of Medicine
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Miller, Chloe Louise. "A comparison of attitudes towards prenatal diagnosis and pre-implantation genetic diagnosis". Thesis, University of Leeds, 2010. http://etheses.whiterose.ac.uk/1083/.

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Abstract (sommario):
Technological advances in prenatal screening and diagnosis mean that it is now possible to test for a wide range of congenital conditions (Hewison et al., 2007). Traditionally testing has been carried out during pregnancy (prenatal diagnosis, PND). However, advances in technology have made it possible for diagnosis of an embryo created through in vitro fertilisation, prior to implantation into the womb (pre-implantation genetic diagnosis, PGD). This means that women can avoid the birth of a child with a genetic condition without the stress of terminating a pregnancy. This raises questions about what women want from reproductive technologies, as it means they are making decisions based not only on the condition diagnosed but also on the technology used to test. Two studies were carried out to examine this further. In the first study, 216 participants completed a questionnaire either based on PND or PGD. Participants were asked whether they would terminate a pregnancy (PND condition) or avoid implantation (PGD condition) following diagnosis of five different genetic conditions, ranging in severity. The results suggest an interaction between the technology (PND or PGD) and the severity of the genetic condition diagnosed, such that for the most and least severe conditions, the number of people choosing to terminate/avoid implantation was similar for the PND and PGD groups. However for conditions in the middle range of severity significantly more people said they would avoid implantation. A within subjects interview study was carried out to explore this further and thematic analysis identified a number of themes that influenced participants’ responses. Overall, the results suggest that PGD may be more acceptable for women in some cases. Women considering diagnoses are likely to benefit from detailed information about both PND and PGD in order to make a fully informed decision as to which is best for them.
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Lee, Sansan. "Genetic counseling perspectives on prenatal array CGH testing". Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23259.

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Azri, Stephanie. "Prenatal Diagnosis and Psychosocial Support: A Study about the Impact of Psychosocial Support on Women’s Wellbeing Following an Adverse Prenatal Diagnosis". Thesis, Griffith University, 2017. http://hdl.handle.net/10072/366774.

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Prenatal diagnosis testing, whether a woman chooses to terminate her pregnancy or carry to term after an adverse prenatal diagnosis, comes with long term, complex implications which include psychiatric, emotional and social problems (Black & Sandelowski, 2010; Fonseca, Nazare & Canavarro, 2012; Howard, 2006, Korenromp, Christiaens, Bout, Mulder, Hunfeld & Bilardo, 2005; Lathrop & VandeVuss, 2011a; Taylor, 1998). A variety of strategies are utilised by professionals to support women prior to the decision-making process, at the point of decision-making and after the termination or birth following an adverse prenatal diagnosis. Understanding the impact of specific types of support has been limited. Additionally, it appears that attempts to develop regulatory standards and models for adequate psychosocial support have failed to date (Abramsky, 2003; Howard, 2006; Shiloh, 1996). This study focused on the impacts of particular types of support (counselling, case management, support groups, friends/family and/or written resources) on the anxiety, guilt and decisional conflict of women after a prenatal diagnosis.
Thesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Human Services and Social Work
Griffith Health
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LaPan, Amy C. "Prenatal testing, birth outcomes, and views of social workers". online access from Digital Dissertation Consortium, 2005. http://libweb.cityu.edu.hk/cgi-bin/er/db/ddcdiss.pl?3202790.

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Leung, Wing-cheong, e 梁永昌. "Rapid aneuploidy testing or traditional karyotyping, or both, in prenatal diagnosis". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B4520553X.

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Paal, Andrea M. "Parents' Informational Needs Following Prenatal Diagnosis of Spina Bifida". University of Cincinnati / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1276976280.

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Libri sul tema "Prenatal diagnosis"

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Hahn, Sinuhe, e Laird G. Jackson, a cura di. Prenatal Diagnosis. Totowa, NJ: Humana Press, 2008. http://dx.doi.org/10.1007/978-1-59745-066-9.

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Levy, Brynn, a cura di. Prenatal Diagnosis. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-8889-1.

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Abramsky, Lenore, e Jean Chapple, a cura di. Prenatal Diagnosis. Boston, MA: Springer US, 1994. http://dx.doi.org/10.1007/978-1-4899-3027-9.

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I, Evans Mark, a cura di. Prenatal diagnosis. New York: McGraw-Hill Medical Pub. Division, 2005.

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Sinuhe, Hahn, e Jackson Laird G, a cura di. Prenatal diagnosis. Totowa, NJ: Humana Press, 2008.

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Jack, FitzSimmons, a cura di. Prenatal diagnosis. New York: Elsevier, 1993.

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1946-, Filkins Karen, e Russo Joseph F. 1945-, a cura di. Human prenatal diagnosis. New York: M. Dekker, 1985.

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1946-, Filkins Karen, e Russo Joseph F. 1945-, a cura di. Human prenatal diagnosis. 2a ed. New York: M. Dekker, 1990.

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Paley Galst, Joann, e Marion S. Verp, a cura di. Prenatal and Preimplantation Diagnosis. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-18911-6.

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1943-, Simpson Joe Leigh, e Elias Sherman, a cura di. Essentials of prenatal diagnosis. New York: Churchill Livingstone, 1993.

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Capitoli di libri sul tema "Prenatal diagnosis"

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Atkinson, H. Glenn, e Alan Handyside. "Preimplantation diagnosis". In Prenatal Diagnosis, 116–33. Boston, MA: Springer US, 1994. http://dx.doi.org/10.1007/978-1-4899-3027-9_8.

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Kleijer, W. J. "Prenatal Diagnosis". In Inborn Metabolic Diseases, 683–95. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-662-02613-7_54.

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Kardon, Nataline, e Lisa Edelmann. "Prenatal Diagnosis". In Molecular Genetic Pathology, 441–48. Totowa, NJ: Humana Press, 2008. http://dx.doi.org/10.1007/978-1-59745-405-6_17.

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Peña, Alberto, e Andrea Bischoff. "Prenatal Diagnosis". In Surgical Treatment of Colorectal Problems in Children, 27–32. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-14989-9_3.

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Eady, R. A. J. "Prenatal Diagnosis". In Dermatology in Five Continents, 127–31. Berlin, Heidelberg: Springer Berlin Heidelberg, 1988. http://dx.doi.org/10.1007/978-3-642-83360-1_18.

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Jackson, John F. "Prenatal Diagnosis". In Genetics and You, 27–42. Totowa, NJ: Humana Press, 1996. http://dx.doi.org/10.1007/978-1-4612-0227-1_3.

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Zuckerwise, Lisa C., Karen Archabald e Joshua Copel. "Prenatal diagnosis". In Evidence-based Obstetrics and Gynecology, 213–23. Chichester, UK: John Wiley & Sons, Ltd, 2018. http://dx.doi.org/10.1002/9781119072980.ch21.

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Rothman, Barbara Katz. "Prenatal Diagnosis". In Biomedical Ethics Reviews, 171–86. Totowa, NJ: Humana Press, 1991. http://dx.doi.org/10.1007/978-1-59259-445-0_9.

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Milunsky, Aubrey. "Prenatal Diagnosis". In Genetics and the Law III, 335–46. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4684-4952-5_24.

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Thomas, David F. M., e Robert H. Whitaker. "Prenatal Diagnosis". In Clinical Practice in Urology, 45–53. London: Springer London, 1989. http://dx.doi.org/10.1007/978-1-4471-1712-4_5.

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Atti di convegni sul tema "Prenatal diagnosis"

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Forestier, F., F. Daffos, C. Kaplan e P. Champeix. "PRENATAL DIAGNOSIS OF HEMORRHAGIC DISORDERS". In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644270.

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Utilizing an easy and safe procedure for fetal blood sampling in utero. we have studied 123 fetuses for congenital oracquire hemorrhagic disorders.Usually, the diagnosis is performed at the 18th week of gestation. To date, no fetal less or premature labor has beenattributed to these fetal samplings. Theduration of the procedure was less than 10 minutes in 90 % of the cases. Direct blood sampling with a needle guided by ultrasound is safer for fetuses and simpler for the patients than fetoscopy. Among the 1.465 samplings the mortality rateis 0.2 %. We have established the basis values for fetal hemostasis when the samplings were performed for non hematological purpose, and could determine the fetal sex which play a role in hereditary disorders. Hemophilia A and B [92 cases]. Willebrand disease, factor XIII, V and VII deficiencies were diagnosed on the existence of a specific fetal deficit. Theknowledge of the fetal primary hemostasis let us to establish the diagnosis of May Hegglin syndrome. Gray platelet syndrome. and Glanzmann's thrombasthenia. There were no diagnostic errors. This procedure offers a new possibility of easily taking iterative samples, until the end of pregnancy, which represents a particular interest in prenatal diagnosis.
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Oseji, Ogochukwu, Felipe Mercado Olivares, Torri Anderson, Victor Sebastian Arruarana, Rochelle Johns, Israel Benjamin, Jana Yancey et al. "Prenatal Diagnosis of Gastroschisis". In 13th Philadelphia Prenatal Virtual Conference—Selected Abstracts. Thieme Medical Publishers, Inc., 2021. http://dx.doi.org/10.1055/s-0041-1735769.

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Oseji, Ogochukwu, Felipe Mercado Olivares, Torri Anderson, Victor Sebastian Arruarana, Rochelle Johns, Israel Benjamin, Jana Yancey et al. "Prenatal Diagnosis of Gastroschisis". In 13th Philadelphia Prenatal Virtual Conference—Selected Abstracts. Thieme Medical Publishers, Inc., 2021. http://dx.doi.org/10.1055/s-0041-1735769.

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Olivares, Felipe Mercado, Ogochukwu Oseji, Israel Benjamin, Torrie Anderson, Victor Sebastian Arruarana, Rochelle Johns, Jana Yancey, Andrej Bogojevic e Kecia Gaither. "Prenatal Diagnosis of Ocular Anomalies". In 13th Philadelphia Prenatal Virtual Conference—Selected Abstracts. Thieme Medical Publishers, Inc., 2021. http://dx.doi.org/10.1055/s-0041-1735771.

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Olivares, Felipe Mercado, Ogochukwu Oseji, Israel Benjamin, Torrie Anderson, Victor Sebastian Arruarana, Rochelle Johns, Jana Yancey, Andrej Bogojevic e Kecia Gaither. "Prenatal Diagnosis of Ocular Anomalies". In 13th Philadelphia Prenatal Virtual Conference—Selected Abstracts. Thieme Medical Publishers, Inc., 2021. http://dx.doi.org/10.1055/s-0041-1735771.

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Moodie, P., I. R. Peake, M. B. Liddell e A. L. Bloom. "CARRIER DETECTION AND PRENATAL DIAGNOSIS IN HAEMOPHILIA A BY GENE ANALYSIS". In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644007.

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Abstract (sommario):
Restriction fragment length polymorphism (RFLP) analysis has been used to perform family studies, including prenatal diagnosis, in 21 haemophilia A kindred.Two intragenomic RFLPs were studied in conjunction with one linked RFLP. The intragenomic BgII RFLP,situation 3' to exon 26 was detected with cDNA probe C (Genetics Institute) giving bands of 20kb (17% of X chromosomes) and 5kb (83%), and the intragenomic Bell RFLP, situated 3' to exon 18, was detected with the genomic DNA probe pi 14.12 from Genentech. The frequency of this RFLP in the local population was 23% (1.1 kb allele) and 77% (0.88kb allele). The linked probe DXS15 (DX13) was used to detect a Bglll RFLPwith alleles of 5.8kb (45%) and 2.8kkb (55%). A recombination rate of approximately 5% has been estimated between the factor VIII and DXS15 lociCarrier studies were performed in 15 kindreds. 25 obligate carriers were identified and of these, 20 were potentially informative (heterozygous and phase known) for at least 1 RFLP (9 for Bgll, 9 for Bell and 7 for BgIII). 34 possible carriers were studied, of which 13 were diagnosed as normal (6 by BgII, 6 by Bell and 5 by BgIII). 17 were diagnosed as carriers (2 by Bgll, 12 by Bell and 10 by Bglll) and diagnosis was not possible in a further 4 cases. Of these diagnosed as carriers 3 were non-informative for all RFLPs, and 14informative for at least one RFLP (3 by Bgll, 8 by Bell and 8 with BgIII).Prenatal diagnosis was attempted by analysis of DNA extracted by chorionic villussampling in 6 cases of male fetuses at risk of havinghaemophilia A. 1 fetus was diagnosed as being affected (Bell) and was electively terminated. Three otherfetuses were diagnosed as normal by the BgIII/DXS15 RFLP, but the two intragenomic RFLPs were non-informative. Because of the possibility of a crossover allthree patients opted for mid-trimester fetoscopy andmeasurement of fetal factor VIII at Kings College Hospital, London (Dr Reuben Mibashan), where the diagnoses were confirmed. In the 4th case a normal fetus was diagnosed by the Bgll RFLP analysis, but a spontaneous abortion at 12 weeks prevented confirmation of this result. In the final case of twin male fetuses, none of the RFLPs was informative and both were diagnosed as normal by fetal blood sampling at fetoscopy.
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Benjamin, Israel, Rochelle Johns, Giovanni Sisti, Jana Yancey, Andrej Bogojevic, Ronald Bainbridge e Kecia Gaither. "Prenatal Diagnosis of Cleft Lip + Palate". In 13th Philadelphia Prenatal Virtual Conference—Selected Abstracts. Thieme Medical Publishers, Inc., 2021. http://dx.doi.org/10.1055/s-0041-1735768.

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Benjamin, Israel, Rochelle Johns, Giovanni Sisti, Jana Yancey, Andrej Bogojevic, Ronald Bainbridge e Kecia Gaither. "Prenatal Diagnosis of Cleft Lip + Palate". In 13th Philadelphia Prenatal Virtual Conference—Selected Abstracts. Thieme Medical Publishers, Inc., 2021. http://dx.doi.org/10.1055/s-0041-1735768.

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Mladenović, Tamara. "FUNDAMENTAL LEGAL ASPECTS OF THE PRENATAL GENETIC DIAGNOSIS". In International scientific conference challenges and open issues of service law. Vol. 1. University of Kragujevac, Faculty of law, 2024. http://dx.doi.org/10.46793/xxmajsko1.395m.

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Abstract (sommario):
he field of genetic services within the legal system of the Republic of Serbia was initially regulated in 2015 with the enactment of the Law on Prevention and Diagnosis of Genetic Diseases, Genetically Conditioned Anomalies, and Rare Diseases. This law, commonly known as “Zoja’s Law”, was prompted by the advocacy of parents whose daughter suffered from a rare disease and was denied access to healthcare due to the inability to obtain a diagnosis in Serbia. As a result, the law was introduced to the public with significant attention and is recognized as one of the most modern legal frameworks in Europe concerning the establishment of rights, duties, and responsibilities for participants in medical procedures related to the prevention and diagnosis of genetics diseases, genetically conditioned anomalies, and rare diseases.This law covers several broader areas in the context of genetic testing aimed at establishing a diagnosis, including predictive, prenatal, and postnatal diagnostics. This paper focuses on the analysis of prenatal diagnosis - the genetic testing of embryos or fetuses. In addition to examining the provisions of domestic legislation, special attention will be given to analyzing the European Court of Human Rights (ECtHR) practice regarding member states’ provision of access to these services for individuals. This analysis entails assessing the compatibility of Serbia’s legal framework with European human rights standards, particularly concerning the right to health and reproductive rights. Key issues explored include access to information, consent, privacy, and the balancing of individual rights with societal interests.
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Tran, Tram, Susan Mahan, Samantha Spencer, James Kasser e Collin May. "Prenatal Diagnosis of Congenital Lower Extremity Deformity". In Selection of Abstracts From NCE 2016. American Academy of Pediatrics, 2018. http://dx.doi.org/10.1542/peds.141.1_meetingabstract.640.

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Rapporti di organizzazioni sul tema "Prenatal diagnosis"

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Bolkcom, Bridget. Etiology, Diagnosis, and Treatments of Ventral Wall Defects and Acess to Prenatal Care. Ames (Iowa): Iowa State University, maggio 2022. http://dx.doi.org/10.31274/cc-20240624-640.

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Feng, Zhichao, Zhimin Yan e Qianyun Liu. MRI Signs for Prenatal Prediction of Placenta Accreta Spectrum Disorders and Invasiveness in High-risk Pregnant Women: A Systematic Review and Meta-Analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, novembre 2022. http://dx.doi.org/10.37766/inplasy2022.11.0003.

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Abstract (sommario):
Review question / Objective: This meta-analysis aimed to identify the significant MRI signs for placenta accreta spectrum in high-risk pregnant women and to determine their diagnostic value. Condition being studied: Placenta accreta spectrum (PAS) is a dangerous complication in pregnancies with increasing incidence worldwide, in which the villous tissue adheres or invades the uterine wall. Eligibility criteria: Articles assessing the diagnostic performance of MRI signs for PAS and/or placenta percreta in high-risk pregnant women underwent full-text review. Included studies required confirmation of diagnosis based on intraoperative and/or pathologic findings.
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Marchionni, Enrica, Daniele Guadagnolo, Gioia Mastromoro e Antonio Pizzuti. Diagnostic yield of prenatal Exome Sequencing in fetal Central Nervous System Anomalies: systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, maggio 2023. http://dx.doi.org/10.37766/inplasy2023.5.0003.

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Abstract (sommario):
Review question / Objective: The aim of this study is to assess the incremental diagnostic yield of prenatal exome sequencing analysis after inconclusive result of karyotype and Chromosomal Microarray Analysis in Central Nervous System fetal anomalies detected by ultrasound. Eligibility criteria: Inclusion criteria: papers describing fetuses with the indication to perform genome-wide sequencing studies based on prenatal imaging findings who underwent previous inconclusive karyotype and Chromosomal Microarray Analyses. The diagnostic yields of prenatal exome sequencing analysis OR prenatal genome sequencing analysis (with ≥20–30x depth of coverage and including only Single Nucleotide Variants) will be pooled in a meta-analysis. Exclusion Criteria: case reports and papers describing less than 5 cases; papers not describing the application of genome-wide sequencing studies based on prenatal imaging findings; papers describing genome-wide sequencing studies performed after negative targeted panels; papers describing fetuses with recurrent phenotypes as an explicitly selection criterium.
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