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Chapter 1 - Genetics of fetal anomalies

from Section 1 - Genetics and antenatal screening

Published online by Cambridge University Press:  05 April 2016

By
Alan Fryer
Edited by
Bidyut Kumar  and
Zarko Alfirevic
Bidyut Kumar
Affiliation:
Wrexham Maelor Hospital
Zarko Alfirevic
Affiliation:
University of Liverpool
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Chapter
Information
Fetal Medicine , pp. 1 - 18
Publisher: Cambridge University Press
Print publication year: 2016

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References

References

Chinnery, PF, Di Mauro, S, Shanske, S, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004; 364: 592–6.Google Scholar
Callaway, JL, Shaffer, LG, Chitty, LS, et al. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenal Diagn 2013; 33: 1119–23.Google ScholarPubMed
Wapner, RJ, Martin, CL, Levy, B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012; 367: 2175–84.CrossRefGoogle ScholarPubMed
Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis. American College of Obstetricians and Gynecologists Committee on Genetics. Obstet Gynecol 2013; 122: 1374–7.Google Scholar
Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics. Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information, 2nd edn. Report of the Joint Committee on Medical Genetics. London: RCP, RCPath, 2011. www.bsgm.org.uk (accessed January 30, 2014).Google Scholar
Finning, K, Martin, P, Summers, J, et al. Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study. BMJ 2008; 336: 816–8.CrossRefGoogle ScholarPubMed
Hill, M, Finning, K, Martin, P, et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 2011; 80(1): 68–75.CrossRefGoogle ScholarPubMed
Firth, H, Hurst, J. Oxford Desk Reference – Clinical Genetics. Oxford, UK: Oxford University Press, 2005.Google Scholar

Bibliography

Strachan, T, Read, A. Human Molecular Genetics 4th edn. Garland Science, Taylor & Francis Group, LLC, 2011.Google Scholar
Gardner, RJM, Sutherland, GR, Shaffer, LG. Chromosome Abnormalities and Genetic Counselling, 4th edn. Oxford, UK: Oxford University Press, 2012.Google Scholar

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