D Lena-Russo1, C Badens, M Aubinaud, F Merono, C Paolasso, N Martini, J F Mattei. 1. Laboratoire des Hémoglobines, Centre d'Enseignement et de Recherche en Génétique Médicale (CERGM), Centre Hospitalo-Universitaire (CHU) de la Timone, Marseille, France. lena@medecine.univ-mrs.fr
Abstract
OBJECTIVES: To assess the impact of a screening programme for haemoglobinopathies which was organised from 1978 to 1985 in high secondary schools of the Marseille region. METHODS: Several variables that reflected the influence of this preventive programme on the uptake of prenatal diagnosis were investigated. To evaluate the partner's uptake for the testing, a letter was sent, together with an anonymous questionnaire, to all the haemoglobin carriers detected in this programme. To evaluate the number of prenatal diagnoses, the charts of all couples from the Marseille area who underwent genetic counselling for haemoglobinopathies were compiled. The number of affected children born between 1980 to 2000 was recorded, and the cases in which one of the parents had previously been screened at school were noted. RESULTS: Half of the carriers replied to the questionnaire: 86% knew that they have to test their partner. Six carrier couples were identified, four asked for genetic counselling and requested eight prenatal diagnoses, two couples did not request genetic counselling and have had two affected children. CONCLUSIONS: Despite the time lapse between screening, informing, and pregnancy (mean 15 years), the information was well conserved and resulted in testing of the partner. The screening programme was effective in motivating requests for prenatal diagnosis.
OBJECTIVES: To assess the impact of a screening programme for haemoglobinopathies which was organised from 1978 to 1985 in high secondary schools of the Marseille region. METHODS: Several variables that reflected the influence of this preventive programme on the uptake of prenatal diagnosis were investigated. To evaluate the partner's uptake for the testing, a letter was sent, together with an anonymous questionnaire, to all the haemoglobin carriers detected in this programme. To evaluate the number of prenatal diagnoses, the charts of all couples from the Marseille area who underwent genetic counselling for haemoglobinopathies were compiled. The number of affected children born between 1980 to 2000 was recorded, and the cases in which one of the parents had previously been screened at school were noted. RESULTS: Half of the carriers replied to the questionnaire: 86% knew that they have to test their partner. Six carrier couples were identified, four asked for genetic counselling and requested eight prenatal diagnoses, two couples did not request genetic counselling and have had two affected children. CONCLUSIONS: Despite the time lapse between screening, informing, and pregnancy (mean 15 years), the information was well conserved and resulted in testing of the partner. The screening programme was effective in motivating requests for prenatal diagnosis.
Authors: Antonio Amato; Maria Pia Cappabianca; Maria Lerone; Alessia Colosimo; Paola Grisanti; Donatella Ponzini; Paola Di Biagio; Maria Perri; Debora Gianni; Silvana Rinaldi; Roberta Piscitelli Journal: J Community Genet Date: 2013-10-27
Authors: Cindy-Lee Dennis; Flavia Marini; Jennifer Abbass Dick; Stephanie Atkinson; Jon Barrett; Rhonda Bell; Anick Berard; Howard Berger; Hillary K Brown; Evelyn Constantin; Deborah Da Costa; Andrea Feller; Astrid Guttmann; Magdalena Janus; K S Joseph; Peter Jüni; Sarah Kimmins; Nicole Letourneau; Patricia Li; Stephen Lye; Jonathon L Maguire; Stephen G Matthews; David Millar; Dragana Misita; Kellie Murphy; Anne Monique Nuyt; Deborah L O'Connor; Rulan Savita Parekh; Andrew Paterson; Martine Puts; Joel Ray; Paul Roumeliotis; Stephen Scherer; Daniel Sellen; Sonia Semenic; Prakesh S Shah; Graeme N Smith; Robyn Stremler; Peter Szatmari; Deanna Telnner; Kevin Thorpe; Mark S Tremblay; Simone Vigod; Mark Walker; Catherine Birken Journal: BMJ Open Date: 2021-02-10 Impact factor: 2.692