Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

UMMS Affiliation

Department of Pediatrics; New England Newborn Screening Program

Publication Date


Document Type



Chlorides; Cystic Fibrosis; Electrolytes; Genetic Counseling; Genetic Testing; Genotype; Heterozygote; Heterozygote Detection; Humans; Infant, Newborn; Massachusetts; Mutation; Neonatal Screening; Pilot Projects; Referral and Consultation; Risk Factors; Sweating; Time Factors; Trypsinogen


Genetics and Genomics | Medical Genetics | Pediatrics


PURPOSE: To study the follow-up of genetic counseling performed in families with a newborn detected with one cystic fibrosis (CF) mutation in a statewide newborn screening pilot program.

METHODS: Newborns in Massachusetts with an elevated trypsinogen level on newborn screen who are found to have one mutation for CF on a selected mutation assay undergo sweat testing for CF, and their families receive genetic counseling. The genetic counseling focuses on carrier risk for the parents of the newborn and offers carrier testing. We studied the yield of genetic counseling and the resulting genetic testing performed on the families of infants found to be CF carriers who underwent sweat testing in a single institution.

RESULTS: Of 102 newborns evaluated with a single CF mutation, 2 (twins) had sweat test results consistent with CF. A total of 101 families were counseled, and 95 were offered DNA-based CF carrier testing. Eighty-two percent of all parents chose to have CF carrier testing, and in five couples, both members were carriers. One of these couples (whose newborn was only a carrier) had an older child who was unexpectedly found to have CF.

CONCLUSIONS: Sweat testing of newborns at increased risk for CF in conjunction with genetic counseling for their parents allows identification of infants with CF, finds couples at high risk for having a child with CF, identifies previously undiagnosed siblings with CF, and allows for potential identification of CF carriers in the extended family.

DOI of Published Version



Genet Med. 2001 Nov-Dec;3(6):411-5. DOi 10.1097/00125817-200111000-00006

Journal/Book/Conference Title

Genetics in medicine : official journal of the American College of Medical Genetics

Related Resources

Link to Article in PubMed

PubMed ID