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Conclusion

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Preconception carrier screening is being offered for an increasing number of genetic conditions and to a broadening population of patients. It is incumbent on providers to stay abreast of the types of screening offered through clinical and commercial laboratories. We must educate pregnant women and those considering pregnancy on the availability of screening. As screening expands, so must our pretest and post‐test counseling surrounding the potential benefits and risks of this screening and the implications and follow‐up for both positive and negative results. Professional guidelines should continue to be updated to reflect scientific developments and the changing role of carrier screening.

Protocols for High-Risk Pregnancies

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