Neonatal Screening and Genetic Counseling for Sickle Cell Trait

Fortnightly Review: Neonatal screening for sickle cell disorders: what about the carrier infants?

“…An approach that requires parents to make any necessary appointments may allow those who believe they will benefit from counselling to make an appointment 13. Experience from North America suggests that between a third and a half of all parents respond,13 20 but issuing a prearranged appointment may prove costly if uptake is low 20.…”

“…An approach that requires parents to make any necessary appointments may allow those who believe they will benefit from counselling to make an appointment 13. Experience from North America suggests that between a third and a half of all parents respond,13 20 but issuing a prearranged appointment may prove costly if uptake is low 20. Comparable data are lacking for Britain, where almost all families are registered with a general practitioner, who in some districts may initially communicate positive neonatal screening results for congenital hypothyroidism and phenylketonuria.…”

“…Furthermore, future reproductive choice will be enhanced only if carrier couples are identified before the next pregnancy. Problems in contacting parents of presumptive carrier infants have been documented in the United States,12 13 but similar studies in this country are lacking.…”

“…Although neonatal ascertainment of carriers may present an opportunity to inform the child—nearer reproductive age—of his or her carrier status, such information may not be accurately relayed to the child then13 and access to counselling when the child is older is difficult to ensure 14. There are, in addition, logistic problems in achieving the long term follow up of such children as well as potential implications for confidentiality.…”

Balancing benefits and risks for cystic fibrosis newborn screening: implications for policy decisions

“…Further, the experience of counseling parents of sickle-cell carriers identified through NBS suggests that even when the resources are available, many parents do not obtain counseling. 33,34 These concerns emphasize that screening programs need to develop methods for outcome surveillance and continuous quality improvement.…”