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. 2009 Nov;11(11):818-21.
doi: 10.1097/GIM.0b013e3181bb267b.

Screening for fetal aneuploidy and neural tube defects

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Screening for fetal aneuploidy and neural tube defects

Deborah A Driscoll et al. Genet Med. 2009 Nov.

Abstract

Maternal serum screening for neural tube defects and fetal aneuploidy in the second trimester has been incorporated into obstetrical practice over the past two decades. Now, as a result of several multicenter trials, first trimester screening between 11 and 14 weeks has been shown to be an effective and reliable screening test for Down syndrome and trisomy 18. This policy updates the American College of Medical Genetics policy statement entitled Second Trimester Maternal Serum Screening for Fetal Open Neural Tube Defects and Aneuploidy (2004), incorporates First trimester diagnosis and screening for fetal aneuploidy (2008) and complements the sections of American College of Medical Genetic's Standards and Guidelines for Clinical Genetics Laboratories entitled Prenatal Screening for Down syndrome (2005) and Prenatal Screening for Open Neural Tube Defects (2005).

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References

    1. ACOG Committee on Practice Bulletins ACOG Practice Bulletin Number 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109:217–227. - PubMed
    1. Wald NJ, Cuckle HS, Brock JH, Peto R, Polani PE, Woodford FP. Maternal serum alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of the U.K. Collaborative Study on alpha-etoprotein in relation to neural tube defects. Lancet. 1977;1:1323–1332. - PubMed
    1. Milunsky A. Maternal serum screening for neural tube and other defects. In: Milunsky A, editor. Genetic disorders and the fetus: diagnosis, prevention, and treatment. 4th ed. Baltimore, MD: Johns Hopkins University Press; 1998. pp. 635–701.
    1. Bradley LA, Palomaki GE, McDowell GA, ONTD Working Group. ACMG Laboratory Quality Assurance Committee Technical standards and guidelines: prenatal screening for open neural tube defects. Genet Med. 2005;7:355–369. - PubMed
    1. Cheschier N. ACOG Committee on Practice Bulletins-Obstetrics. ACOG Practice Bulletin Number 44: neural tube defects. Int J Gynaecol. 2003;83:123–133. - PubMed

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