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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -4 مورد

Counseling based on CFTR genetic test result in an individual who is pregnant or planning pregnancy

Counseling based on CFTR genetic test result in an individual who is pregnant or planning pregnancy
CF carrier screening should be offered to all individuals who are pregnant or considering pregnancy.
  • Risk is highest in certain populations, but race or ethnicity cannot be used to exclude the possibility of having CF or being a CF carrier.
  • Any individual with clinical findings of CF should have genetic testing, as genotype influences treatment options.

Refer to separate discussions in UpToDate regarding clinical findings that would indicate a need for testing such as chronic sinusitis, lung or gastrointestinal disease, infertility, or positive sweat chloride testing, as well as discussions of risk estimates and reproductive options.

CF: cystic fibrosis; PV: pathogenic variant.

* If a relative has CF and their CFTR PVs have not been defined, test the relative first. If it is not possible to obtain information about the familial PV, refer to a genetics expert to determine the best approach to testing, which may include CFTR sequencing of the partner with a positive family history.

¶ Refer to UpToDate for a discussion of best practices for routine carrier screening.

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