As per ACOG recommendations, Cycstic Fibrosis (CF) screening should be offered to all Caucasian patients, in the preconception period or early in pregnancy.  CF screening should be made available to patients of other ethnic backgrounds, and they should be informed that the incidence and detection rates are lower outside of the Caucasian population

Patients should be counseled regarding testing and/or written materials should be provided to the patient to aid in the decision to be tested.  Ideally this would include information regarding clinical manifestations, incidence of CF mutations, implications of testing, and possbile reasons to be tested and not be tested.  One example of a brochure is the ACOG Cystic Fibrosis Carrier Testing:  the Decision is Yours brochure.

 

Documentation that screening was offered and accepted or declined should be included in the medical record.  If genetic testing for CF is desired, a consent form should be signed.

 

Testing guidelines

·       Testing should be performed by a laboratory using the recommended ACOG/ACMG core panel of mutations.

·       5T allele analysis should not be ordered routinely.  Reflex testing for 5T should be performed if the R117H mutations is present.

·       Consider ordering an expanded panel of mutations and/or scheduling genetic counseling in the following situations:

o      If there is a family history of CF.  Obtain reports of familial mutation if available.

o      If echogenic bowel is noted on prenatal ultrasound.

o      If the partner is found to be a carrier of a CF mutation.

 

If both parents are found to be carriers, genetic counseling is recommended and prenatal diagnosis via CVS or amniocentesis should be offered.

 

 

 

 

Prepared in conjunction with the

Division of Maternal-Fetal Medicine

Duke University Medical Center

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The Clinical Care Guidelines Development Committee of the Perinatal Improvement Board of Duke University Health System has developed a series of multi-disciplinary protocols to offer guidance to health care providers who are caring for pregnant women with high risk conditions.

 

These protocols are designed to assist health care providers in the management of a variety of problems that occur in pregnancy and the time of delivery. They should not be interpreted as standard of care, but instead represent only general guidelines for the care of pregnant women with high risk conditions.  We recognize that services offered by individual providers depend not only on their training, experience and institutional resources, but on the medical facts and circumstances of the specific care situation.

The protocols remain the intellectual property of the Duke University Health System.  They cannot be reproduced in whole or part without the expressed permission of the Health System.

 

These protocols are reviewed by the Department of Obstetrics and Gynecology Division of Maternal-Fetal Medicine, the Department of Pediatrics Division of Neonatology and the Department of Anesthesiology Division of Women’s Anesthesia.  Please contact Andra H. James (andra.james@duke.edu), Chair, Clinical Care Guidelines Development Committee of the Perinatal Improvement Board with ideas for additional protocols.