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Previous Volume 360:2556-2562 June 11, 2009 Number 24 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they exist. The article ends with the authors' clinical recommendations.

A 37-year-old woman, gravida 1, seeks prenatal care at 8 weeks' gestation. Her family history and medical history are unremarkable. What would you advise regarding her risk of fetal chromosomal abnormalities such as Down's syndrome and her options for prenatal screening and diagnosis?

The Clinical Problem

Aneuploidy, a deviation from the normal number of 46 chromosomes in humans, is associated with significant morbidity and mortality, . . . [Full Text of this Article]

Strategies and Evidence

Second-Trimester Serum Screening

First-Trimester Screening

Combined First-Trimester and Second-Trimester Screening

Diagnostic Testing for Fetal Aneuploidy

Areas of Uncertainty

Ultrasonographic Markers of Aneuploidy

Multiple Gestation

Guidelines

Conclusions and Recommendations

Source Information

From the Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine and Health System, Philadelphia (D.A.D.); and the Department of Obstetrics and Gynecology, North Bronx Healthcare Network and Albert Einstein College of Medicine, Bronx, NY (S.G.).

An audio version of this article is available at NEJM.org.

Address reprint requests to Dr. Driscoll at the Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, 3400 Spruce St., Philadelphia, PA 19104, or at ddriscoll@obgyn.upenn.edu.

This article has been cited by other articles:

• Hulten, M. A, Patel, S., Jonasson, J., Iwarsson, E. (2010). On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model. Reproduction 139: 1-9 [Abstract] [Full Text]