Готові списки джерел за темами / Prenatal diagnosis Australia

Добірка наукової літератури з теми "Prenatal diagnosis Australia"

Автор: Grafiati
Опубліковано: 10 грудня 2022
Оновлено: 28 січня 2023

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Статті в журналах з теми "Prenatal diagnosis Australia"

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CALVERT, Nick, Sara DAMIANI, Julian SUNARIO, Caroline BOWER, and Jan E. DICKINSON. "The outcomes of pregnancies following a prenatal diagnosis of fetal exomphalos in Western Australia." Australian and New Zealand Journal of Obstetrics and Gynaecology 49, no. 4 (August 2009): 371–75. http://dx.doi.org/10.1111/j.1479-828x.2009.01036.x.

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2

MAXWELL, Susannah, Kate BRAMELD, Carol BOWER, Jan E. DICKINSON, Jack GOLDBLATT, Narelle HADLOW, Bev HEWITT, et al. "Socio-demographic disparities in the uptake of prenatal screening and diagnosis in Western Australia." Australian and New Zealand Journal of Obstetrics and Gynaecology 51, no. 1 (December 6, 2010): 9–16. http://dx.doi.org/10.1111/j.1479-828x.2010.01250.x.

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3

MUGGLI, Evelyne Elvira, Veronica Rose COLLINS, and Jane Lavinia HALLIDAY. "Mapping uptake of prenatal diagnosis for Down syndrome and other chromosome abnormalities across Victoria, Australia." Australian and New Zealand Journal of Obstetrics and Gynaecology 46, no. 6 (December 2006): 492–500. http://dx.doi.org/10.1111/j.1479-828x.2006.00648.x.

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4

Bell, J. A., J. Pearn, G. Cohen, J. Ford, J. Halliday, N. Martin, M. Mulcahy, S. Purvis-Smith, and G. Sutherland. "Utilization of prenatal cytogenetic diagnosis in women of advanced maternal age in Australia, 1979–1982." Prenatal Diagnosis 5, no. 1 (January 1985): 53–58. http://dx.doi.org/10.1002/pd.1970050110.

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5

Campbell, Scott, Richard Theile, Gordon Stuart, Eddie Cheng, Stephen Sinnott, Gary Pritchard, and Alan Isles. "Separation of craniopagus joined at the occiput." Journal of Neurosurgery 97, no. 4 (October 2002): 983–87. http://dx.doi.org/10.3171/jns.2002.97.4.0983.

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✓ Siamese or conjoined twins have intrigued both the physician and layperson for centuries. The craniopagus type (joined at the head) is exceedingly rare, with an incidence of one in 2.5 million births. Most clinicians never see a case of craniopagus, and those who do rarely see more than one. The authors present a case of the craniopagus type of conjoined twins born and recently separated in Brisbane, Australia. The prenatal diagnosis, subsequent investigations, separation, and outcome are presented.
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KHOO, Nee Scze, Phillipa VAN ESSEN, Malcolm RICHARDSON, and Terry ROBERTSON. "Effectiveness of prenatal diagnosis of congenital heart defects in South Australia: A population analysis 1999-2003." Australian and New Zealand Journal of Obstetrics and Gynaecology 48, no. 6 (December 2008): 559–63. http://dx.doi.org/10.1111/j.1479-828x.2008.00915.x.

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7

Shulman, L. P. "Effectiveness of prenatal diagnosis of congenital heart defects in South Australia: A population analysis 1999–2003." Yearbook of Obstetrics, Gynecology and Women's Health 2009 (January 2009): 30–31. http://dx.doi.org/10.1016/s1090-798x(09)79120-9.

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8

Chan, A., E. F. Robertson, E. A. Haan, R. J. Keane, E. Ranieri, and A. Carney. "Prevalence of neural tube defects in South Australia, 1966-91: effectiveness and impact of prenatal diagnosis." BMJ 307, no. 6906 (September 18, 1993): 703–6. http://dx.doi.org/10.1136/bmj.307.6906.703.

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9

Chan, F. Y., B. Soong, M. Brady, and L. McCann. "P01.01: Changing pattern of tertiary referrals for prenatal diagnosis in a major centre, Australia 1993-2002." Ultrasound in Obstetrics and Gynecology 26, no. 4 (September 2005): 376. http://dx.doi.org/10.1002/uog.2236.

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10

Kariyawasam, Didu Sanduni, Hugo Samapio, David Mowat, and Michelle Farrar. "023 Genetic carrier screening for duchenne muscular dystrophy: the outcome of over twenty years of genetic counselling on disease epidemiology in a single-centre cohort study in new south wales (NSW), australia." Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (July 2019): A8.3—A9. http://dx.doi.org/10.1136/jnnp-2019-anzan.22.

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IntroductionDuchenne Muscular Dystrophy (DMD), an X-linked recessive genetic disorder is maternally inherited in approximately two-thirds of affected boys. Female relatives have carrier risk. This study proposes that proactive genetic screening and counselling for patients’ relatives, contributes to reductions in preventable cases and ultimately disease incidence.MethodsA retrospective study of cases born in NSW from 1991–2013 was completed, using an electronic database of live male and prenatally diagnosed patients with DMD, referred to our tertiary service. Proband genotype/phenotype, pedigree, carrier-risk and extent of cascade screening were reviewed. Variance analysis (two-way ANOVA) was used to analyse changing trends in preventable cases.Results77 cases were identified. Mean age at presentation fell by 14-months over time. Probands were defined as ‘theoretically preventable’ when disease was identified in previous generations, or in males aged over 6 years, within the same generation. Fifteen (19%) cases were preventable, with a statistically significant decline in such cases over time.Cascade screening and prenatal testing of subsequent pregnancies was offered to all carrier mothers and female relatives in the mother’s generation. Fifteen women underwent prenatal testing. Three affected male foetuses were identified, with one live affected male being born, after parents proceeded with the pregnancy.ConclusionRigorous and expansive approaches to cascade-screening/counselling may account for decreases in preventable cases. Age of diagnosis has fallen, providing potential for more timely intervention, aided by newer diagnostic techniques that allow more accurate proband genotyping. Prenatal testing identified small numbers of affected males, facilitating parental decision-making in these select cases.
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Дисертації з теми "Prenatal diagnosis Australia"

1

Henderson, Brent. "A multivariate exploration of the South Australian prenatal Down's syndrome screen /." Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phh4958.pdf.

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2

Maxwell, Susannah. "Diagnosing Fetal Aneuploidy in Australia: The Impact of Prenatal Screening and the Integration of New Technology." Thesis, Curtin University, 2017. http://hdl.handle.net/20.500.11937/66690.

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This thesis explores the historical uptake, impact, performance and outcomes of prenatal screening for fetal aneuploidy in Western Australia. New models were developed to evaluate the economic and clinical impact of new non-invasive cell free DNA (NIPT cfDNA) testing. NIPT can improve the detection of fetal Down syndrome and reduce invasive diagnostic testing and procedure related loss. These studies provide evidence to support the translation of NIPT into national public health policy.
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Searle, Judith 1959. "Social and ethical determinants of the use of routine antenatal screening tests / Judith Searle." 1996. http://hdl.handle.net/2440/38419.

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Bibliography: leaves 197-219.
vii, 252 leaves ;
Title page, contents and abstract only. The complete thesis in print form is available from the University Library.
Thesis (M.D.)--University of Adelaide, Dept. of Medicine, 1997?
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Henderson, Brent. "A multivariate exploration of the South Australian prenatal Down's syndrome screen / Brent Henderson." Thesis, 1998. http://hdl.handle.net/2440/19199.

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Анотація:
Bibliography: leaves 223-229.
xiii, 229 leaves : ill. ; 30 cm.
This thesis considers several aspects of multivariate analysis motivated by the South Australian prenatal Down's syndrome screen, which seeks to identify those pregnancies at high risk to Down's syndrome from several risk factors, amongst them maternal age and measurements from four analyte concentrations found in maternal blood. The primary aim is to discriminate between the unaffected and affected pregnancies in terms of these observed risk factors. Through the development of multivariate regression models it is examined how the Mahalanobis distance might be decomposed into distances that give more insight into where the discrimination is derived and how this might change with the gestational age at which the analyte concentrations are measured. A second multivariate aspect motivated by the screen surrounds the detection of directional outliers and the incorporation of knowledge of likely departures into the outlier identification technique. A method is also developed to account for misreporting in inferences of gestational age. Similarities with measurement error and misclassification models are explored.
Thesis (Ph.D.)--University of Adelaide, Dept. of Statistics, 1998?
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Книги з теми "Prenatal diagnosis Australia"

1

International, Neonatal Screening Symposium (8th 1991 Leura N. S. W. ). Neonatal screening in the nineties: Proceedings of the 8th International Neonatal Screening Symposium, Leura, New South Wales, Australia, 12th-15th November, 1991, and the Arthur Veale Memorial Meeting, Auckland, New Zealand, 5th-9th November, 1991. [North Ryde, N.S.W.]: The Symposium, 1991.

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2

A Relational Approach To Assisted Reproduction Reevaluating The Welfare Of The Child Principle In Selecting Saviour Siblings. Taylor & Francis Ltd, 2013.

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