title: Systematic follow-up and case management of the abnormal newborn screen can improve acceptance of genetic counseling for sickle cell or other hemoglobinopathy trait.
abstract: OBJECTIVE
  Sickle cell or other hemoglobinopathy trait detected on the newborn screen provides an opportunity for genetic counseling of families at risk of having a child with a major hemoglobinopathy. However, follow-up of hemoglobinopathy trait is often fragmented and acceptance of counseling is low. We describe the results of systematic follow-up and case management of abnormal newborn screen and the effect on acceptance of counseling.
  
  
  METHODS
  From July 1997 to June 2002, families of a newborn with hemoglobinopathy trait were notified by mail. In April 2003, an intensive trait follow-up protocol including letters, telephone calls, educational videos, and genetic counseling was implemented. Demographic information and follow-up activity were documented and tracked using an electronic database.
  
  
  RESULTS
  From July 1997 to June 2002, 3095 families were notified by letter of a newborn with hemoglobinopathy trait and were offered genetic counseling. Of these, 165 (5.3%) received counseling by telephone and 60 (2%) underwent extended family testing. From April to December 2003, 694 families with a newborn with hemoglobinopathy trait were notified by mail. Of these, 362 (52%) families were reached by telephone. Of those contacted by telephone, 92% received genetic counseling via telephone, 57% were interested in family testing, and 12% scheduled an appointment. Additionally, 27% of families were mailed an educational video. Among those declining extended family testing, 26% preferred to consult their pediatrician.
  
  
  CONCLUSIONS
  Systematic follow-up and case management of abnormal newborn screen can improve the acceptance of genetic counseling.
authors.affiliation: Department of Genetics Magee Women's Hospital, Pittsburgh, Pennsylvania, USA.
authors.forename: Beth
authors.initials: B
authors.lastname: Kladny
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Gettig
authors.forename: Lakshmanan
authors.initials: L
authors.lastname: Krishnamurti
mesh_terms: D019090:Case Management; D003710:Demography; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010349:Patient Compliance; D010372:Pediatrics; D012017:Referral and Consultation; D012307:Risk Factors