Biomaterial Database

Psychosocial consequences of false-positive newborn screens for cystic fibrosis. 2011

Audrey Tluczek, and Kate Murphy Orland, and Laura Cavanagh

Department of Pediatrics, University of Wisconsin, School of Medicine and Public Health, Madison, Wisconsin, USA. atluczek@wisc.edu

This study was designed to develop a framework for understanding parents' perspectives about the psychosocial consequences of false-positive newborn screening (NBS) results for cystic fibrosis (CF). Through content analysis of interviews with 87 parents of 44 infants, we found that receipt of genetic information through NBS affected parents on intrapersonal and interpersonal levels within a relational family system. Repercussions included wondering about test accuracy, the child's health, and the future; gaining new perspectives and strengthening relationships; questioning paternity; wondering if other relatives had CF/were carriers; searching for the genetic source; sharing genetic information; supporting NBS; and feeling empathy for parents of affected children. We concluded that abnormal NBS results that involve genetic testing can have psychosocial consequences that affect entire families. These findings merit additional investigation of long-term psychosocial sequelae for false-positive results, interventions to reduce adverse iatrogenic outcomes, and the relevance of the relational family system framework to other genetic testing.

UI	MeSH Term	Description	Entries
D007229	Infant Welfare	Organized efforts by communities or organizations to improve the health and well-being of infants.	Infant Well-Being,Newborn Infant Welfare,Newborn Infant Well-Being,Welfare of Infants,Welfare of Newborn Infants,Infant Well Being,Infant Well-Being, Newborn,Infants Welfare,Newborn Infant Well Being,Welfare, Infant,Welfare, Newborn Infant,Well-Being, Infant,Well-Being, Newborn Infant
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D003550	Cystic Fibrosis	An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.	Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D004645	Empathy	An individual's objective and insightful awareness of the feelings and behavior of another person. It should be distinguished from sympathy, which is usually nonobjective and noncritical. It includes caring, which is the demonstration of an awareness of and a concern for the good of others. (From Bioethics Thesaurus, 1992)	Caring,Compassion
D005189	False Positive Reactions	Positive test results in subjects who do not possess the attribute for which the test is conducted. The labeling of healthy persons as diseased when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed)	False Positive Reaction,Positive Reaction, False,Positive Reactions, False,Reaction, False Positive,Reactions, False Positive
D005195	Family Relations	Behavioral, psychological, and social relations among various members of the nuclear family and the extended family.	Family Relationship,Family Dynamics,Family Relationships,Dynamic, Family,Dynamics, Family,Family Dynamic,Family Relation,Relation, Family,Relations, Family,Relationship, Family,Relationships, Family
D005260	Female		Females
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man