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Screening for congenital anomalies 

Screening for congenital anomalies
Chapter:
Screening for congenital anomalies
Author(s):

Murray Enkin

, Marc J. N. C. Keirse

, James Neilson

, Caroline Crowther

, Lelia Duley

, Ellen Hodnett

, and Justus Hofmeyr

DOI:
10.1093/med/9780192631732.003.0009
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date: 23 August 2019

Genetic screening and diagnosis now has a well-established place in modern obstetric care. It should be offered as an option to those women or couples who are deemed to be at significant risk. The potential benefits and potential adverse effects should be made known to them, so that they can make a properly informed choice. The indications for genetic screening require further clarification, including, in particular, surveys of women’s views of the desirability of the screening and of the psychological effects of both positive and negative results. The benefits of earlier exclusion or diagnosis of some fetal disorders afforded by first-trimester chorion villus sampling, as compared with late amniocentesis, must be set against the greater risks of the former. Women considering prenatal diagnosis must be fully informed about the risks and benefits of the alternative procedures.

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