Alexandre L, Keclard L, Romana M, Saint-Martin C, Lavocat-Bernard E, Midonet N, Diara J P, Petras M, Berchel C, Merault G
Centre Intégré de la Drépanocytose, Centre Hospitalier Universitaire, Pointe-à-Pitre, Guadeloupe.
Genet Couns. 1997;8(1):25-32.
As in most caribbean countries, Sickle Cell Disease (SCD) is a major public health problem in Guadeloupe. A prenatal counselling program was developed, at an early stage of pregnancy, for at-risk couples. Over a 6 year period, 144 couples at-risk of having a child with homozygous sickle cell (SS: n = 103) or sickle cell C disease (SC: n = 41) were seen for prenatal counselling. Among those belonging to the SS risk group, 64 (62%) underwent prenatal diagnosis (PND), which allowed identification of 27 SS fetuses, with an induced abortion rate of 70%. Among those of the SC risk group, 14 (34%) accepted PND and the diagnosis of SC was made in 5 cases with an induced abortion rate of 60%. Factors, appeared to play a role in seeking PND and induced abortion, were the type of risk (SS or SC), multiparity, existence of affected child in the family and gestational age at the time of counselling. Our experience reveals that, an early prospective identification of at-risk couples combined with education to increase the awareness of the problem at the individual and population level need to be achieved to further improve the efficiency of our prevention program.
与大多数加勒比国家一样，镰状细胞病（SCD）在瓜德罗普岛是一个重大的公共卫生问题。在怀孕早期为高危夫妇制定了产前咨询计划。在6年的时间里，有144对有生育纯合子镰状细胞（SS：n = 103）或镰状细胞C病（SC：n = 41）患儿风险的夫妇前来接受产前咨询。在属于SS风险组的夫妇中，64例（62%）接受了产前诊断（PND），其中鉴定出27例SS胎儿，引产率为70%。在SC风险组的夫妇中，14例（34%）接受了PND，5例诊断为SC，引产率为60%。在寻求PND和引产方面似乎起作用的因素包括风险类型（SS或SC）、多胎妊娠、家庭中是否有患病儿童以及咨询时的孕周。我们的经验表明，需要在个体和人群层面实现对高危夫妇的早期前瞻性识别，并加强教育以提高对该问题的认识，从而进一步提高我们预防计划的效率。
