Abstract
Aim: Sickle cell disease (SCD) is the most frequent monogenic disease worldwide; ~5–7% of the world population carry a hemoglobin disorder trait. In the US, one in every 1,941 newborns has SCD, whereas one in every 3,000 newborns in France is affected - resulting in 385 new cases and 5,883 newly identified carriers per year. The objective of the present study was to evaluate three different ways of providing information to parents at risk of having a child with SCD, with a view to increasing the parental screening rate and decreasing the number of new cases per year in France.Method: In a randomized study, we contacted 300 couples of parents after their child had been identified as a SCD carrier in the French national newborn screening programme: 100 couples received an information letter (the standard procedure in France: arm A), 100 couples received a letter and then a follow-up phone call (arm B), and 100 received a letter and then three follow-up text messages at 5-day intervals (arm C). The primary endpoint was the number of parents in each arm screened in the 120 days after the letter had been sent. In a modified intention-to-treat analysis, the screening rate was 17% in arm A, 35% in arm B, and 30% in arm C.Results: Telephone and text message follow-ups were associated with higher screening rates, compared with no follow-up. After being informed of their child's carrier status, some parents had consulted a healthcare professional but had not been referred for screening (16% in arm A, 19% in arm B, and 13% in arm C).Conclusion: A letter followed by a phone call or three text messages is more effective than a letter alone for informing parents at risk of having a child with SCD. The effective implementation of this follow-up programme probably requires better training of all the healthcare professionals involved.
Highlights
METHODSThe primary objective of neonatal sickle cell screening is to identify newborns with SCD [1]
Of the 300 couples, 72 had been screened before the start of the study and so were excluded from our analyses (19 in arm A, 29 in arm B, and 24 in arm C; p = 0.25 for the inter-arm difference). These parents had been screened during pregnancy, as part of a family survey or because they already knew that they were at risk of transmitting SCD
In a per-protocol (PP) analysis, we excluded two couples in arm A whose letters had been returned to the sender, couples in arm B who could not be contacted, and couples in arm C who did not receive the text messages
Summary
METHODSThe primary objective of neonatal sickle cell screening is to identify newborns with SCD [1]. In France, neonatal SCD screening is restricted to newborns whose parents come from a defined list of at-risk countries with regard to the SCD trait (https://www.has-sante.fr/ plugins/ModuleXitiKLEE/types/FileDocument/doXiti.jsp?id= c_1724722) This screening is recommended if (i) one or both parents come from an at-risk region; (ii) there is a family history of SCD; or (iii) there is any doubt concerning these criteria. For this reason (and in the absence of an index case), most adults with the HbAS/HbAC trait in France become aware of their status following neonatal screening of their child. The programme’s objectives were to (i) give the parents the newborn’s screening results, (ii) provide information on SCD, and (iii) recommend an appointment with a specialist for parental screening and genetic counseling
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