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Expert Review of Molecular Diagnostics Volume 2, 2002 - Issue 6
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Review

Prenatal genetic diagnosis of Down’s syndrome

Mary-Alice Abbott Connecticut Children’s Medical Center, 282 Washington Street, Hartford, CT 06106. [email protected]
&
Peter Benn Human Genetics Laboratories, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030-6140, USA. [email protected]
Pages 605-615 | Published online: 09 Jan 2014

References

  • Egan JF, Benn P Borgida AF, Rodis JF, Campbell WA, Vintzileos AM. Efficacy of screening for fetal Down's syndrome in the United States from 1974 to 1997. Obst. Gynecol. 96(6), 979–985 (2000).
  • •Documents the substantial changes in childbearing ages and the significance for Down's syndrome (DS) screening.
  • Elias S, Simpson JL, Bombard AT. Amniocentesis and fetal blood sampling. In: Genetic Disorders and the Fetus. Milunsky A (Ed.). Johns Hopkins University Press, Baltimore, USA, 53–82 (1998).
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  • Cuckle HS, Wald NJ, Thompson SG. Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum a-fetoprotein level. Br. J. Obstet. Gynaecol. 94(5), 387–402 (1987).
  • •Provides the maternal age-specific prevalence of DS used in many screening Programs.
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  • •Recent review article.
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  • Benn PA, Ying J, Beazoglou T, Egan JF. Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down's syndrome and trisomy with adjustment for cross-identification and double-positive results. Prenat. Diagn. 21(1), 46–51 (2001).
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  • •Comprehensive review of ultrasound criteria used for the identification of DS-affected pregnancies.
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  • •Meta-analysis of 56 articles spanning almost 20 years that recorded second trimester ultrasound findings, karyotype and outcomes.
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  • •Use of a screening strategy that integrates ultrasound findings with serum screening to produce a combined risk is presented.
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  • •Substantial demonstration of first trimester screening using nuchal translucency.
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  • •This meta-analysis determined the theoretical efficacy of a first trimester screening approach.
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  • •Recent review article.
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  • •Documents the success of a first trimester screening protocol.
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  • •Describes innovations necessary for microarray technologies to emerge into clinical practice.
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  • •Noninvasive prenatal diagnostic strategies may require this type of technology.
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  • •Review article.

Websites

  • American College of Medical Genetics. http://www.acmg.net/Pages/ ACMG Activities/ policy_statements_pages/current/ Multiple_Marker_Screening_in Women_3 5_and_Older_Position_Statement_on.asp. (1994).
  • First and Second Trimester Evaluation of the Risk of Aneuploidy. (Viewed October 2002) http://clinicaltrials.gov/show/ NCT00006445
  • Royal College of Obstetricians and Gynecologists. Recommendations arising from the study group on screening for Down's syndrome in the first trimester. www.rcog.org.uk/study/ downsyndrome.html

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