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Am J Med Genet C Semin Med Genet. 2007 Feb 15;145C(1):99-104.

Ethical considerations of early (first vs. second trimester) risk assessment disclosure for trisomy 21 and patient choice in screening versus diagnostic testing.

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Department of Obstetrics and Gynecology, Weill Medical College of Cornell University, New York, NY 10021, USA.


We discuss the clinical implications regarding disclosure of risk assessment for trisomy 21 screening results in the first versus second trimester. Based on the ethical principles of respect for autonomy, beneficence, and justice, we argue that routinely offering first trimester risk assessment in centers qualified to provide it is ethically obligatory and routinely withholding the results of first trimester risk assessment is ethically unjustified. As risk for trisomy 21 occurs along a continuum, no pregnant woman is without risk; thus, offering diagnostic testing to all women is ethically justified. Informed consent and personal choice regarding diagnostic testing and termination of pregnancy shape patients' decisions to undergo first trimester risk assessment for trisomy 21. Appropriate counseling is required to allow for individual choice regarding timing of disclosure.

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