Information des parents de nouveau-nés AS à la suite du dépistage néonatal de la drépanocytose : expériences lyonnaise et marseillaise (2001–2010)

Joly, Philippe; Badens, Catherine; Fekih, Sarhan; Philippe, N; Merono, Françoise; Thuret, Isabelle; Pondarré, Corinne

doi:10.1016/j.arcped.2015.02.020

Archives de Pédiatrie

2015

DOI: 10.1016/j.arcped.2015.02.020

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Information des parents de nouveau-nés AS à la suite du dépistage néonatal de la drépanocytose : expériences lyonnaise et marseillaise (2001–2010)

Philippe Joly¹,

Catherine Badens²,

Sarhan Fekih

et al.

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Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience

Freppel,

Mention,

Renom

et al. 2024

Pediatric Blood & Cancer

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Neonatal screening for sickle cell disease (SCD) in France, targeted since 1995, indirectly detects newborns with sickle cell trait (SCT). Information about carrier status must be communicated to families in accordance with the 2006 National Consultative Ethics Committee recommendations; however, no national protocol for this exists. In the departments of Nord and Pas‐de‐Calais, the Regional Neonatal Screening Center transmits this information through a general practitioner (GP). This study aimed to assess the success rate of local practices in transmitting SCT information to parents. The secondary objectives included explaining transmission failures, evaluating post‐information couple screening rates, and conducting a nationwide evaluation of SCT information dissemination. In this retrospective, multicenter study, family doctors were surveyed regarding newborns screened for SCT between January 1 and December 31, 2020, in the Nord and Pas‐de‐Calais departments. Among the 260 screened newborns, 197 were eligible for analysis. Results showed that 31.2% of newborns with SCT had their GP definitively sharing information with their parents. Based on this information, subsequent parental screening accounted for 13.6% of cases. The reasons cited by the GP for failing to convey information included elusive families (52.5%), unfamiliarity or refusal of the role (35%), limited SCD knowledge (25%), and ethical considerations (12.5%). This study highlights the difficulty and heterogeneity in transmitting carrier status information to parents of newborns with SCT. Our findings could serve as a foundation for the development of new methods for information transmission, given the generalization of neonatal screening for SCD by the French National Authority for Health.

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Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience

Freppel,

Mention,

Renom

et al. 2024

Pediatric Blood & Cancer

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Targeted screening failures in neonates with sickle cell disease in metropolitan France from 2005 to 2017: Number of cases, failure circumstances and health at diagnosis

Remion

Pluchart

2019

Archives de Pédiatrie

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Genetic Information to Share with Parents when Newborn Screening Reveals the Presence of Sickle Cell Trait

Elenga

2024

International Journal of Pediatrics

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The primary purpose of newborn screening for sickle cell disease is to diagnose the disease before the appearance of symptoms and to initiate early treatment. To answer the question “What genetic information needs to be communicated to parents when newborn screening reveals the presence of a sickle cell trait,” we conducted a survey using a self-administered online questionnaire. We received responses from 122 healthcare workers and members of sickle cell disease associations, in France and French overseas departments. Our results showed similar positions on this issue. The information conveyed is not consistent and is the result of grassroots initiatives. The negative consequences generated by this information could be reduced when this information is delivered by a multidisciplinary team, within the framework of a dedicated consultation. This information on sickle cell trait status should be given in at least three key periods: the neonatal period, early adolescence, and later adolescence, when reproductive implications become important. Neonatal screening programs should develop systems that allow referring physicians to easily access the results of neonatal screening electronically. Harmonization of practices should allow a better analysis of the consequences of this counselling on family projects.

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Information des parents de nouveau-nés AS à la suite du dépistage néonatal de la drépanocytose : expériences lyonnaise et marseillaise (2001–2010)

Cited by 4 publications

References 0 publications

Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience

Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience

Targeted screening failures in neonates with sickle cell disease in metropolitan France from 2005 to 2017: Number of cases, failure circumstances and health at diagnosis

Genetic Information to Share with Parents when Newborn Screening Reveals the Presence of Sickle Cell Trait

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