Anionwu E N, Patel N, Kanji G, Renges H, Brozović M
Brent Sickle Cell and Thalassaemia Centre, Willesden Hospital, London.
J Med Genet. 1988 Nov;25(11):769-72. doi: 10.1136/jmg.25.11.769.
A non-directive programme of prenatal counselling was used during a four year period. Forty-three couples at risk for having a baby with a haemoglobinopathy were identified. Prenatal diagnosis was offered in 19 pregnancies to 14 couples at risk of having a baby with sickle cell anaemia and in two pregnancies in two couples at risk of a baby with beta thalassaemia major, who presented before the 18th week of pregnancy. Six couples at risk for sickle cell anaemia accepted prenatal diagnosis in 10 pregnancies, as did both couples at risk for thalassaemia. Couples who were eligible for prenatal diagnosis but refused it tended not to have been informed about sickle cell disease before counselling, one partner was more frequently absent at the time of the initial counselling session, or they either had no children with sickle cell disease or the children were not severely affected. Other factors influencing their decision included a poor obstetric history and rejection of abortion, mainly on moral grounds. The approximately 50% uptake of prenatal diagnosis in this initial study highlights the complex issues involved. Our experience indicates that with systematic screening and counselling in the antenatal clinic, and with increased awareness of the haemoglobinopathies, couples at risk will be in a better position to make informed decisions.
在四年期间采用了非指导性的产前咨询方案。确定了43对有生育血红蛋白病患儿风险的夫妇。对14对有生育镰状细胞贫血患儿风险的夫妇的19次妊娠以及2对有生育重型β地中海贫血患儿风险的夫妇的2次妊娠提供了产前诊断，这些孕妇在妊娠18周前前来就诊。6对有镰状细胞贫血风险的夫妇在10次妊娠中接受了产前诊断，有地中海贫血风险的两对夫妇也接受了诊断。符合产前诊断条件但拒绝诊断的夫妇往往在咨询前未被告知镰状细胞病，在初次咨询时一方伴侣更常缺席，或者他们要么没有患镰状细胞病的孩子，要么孩子病情不严重。影响他们决定的其他因素包括不良产科史以及主要基于道德原因对堕胎的拒绝。在这项初步研究中，产前诊断的接受率约为50%，这凸显了其中涉及的复杂问题。我们的经验表明，通过产前诊所的系统筛查和咨询，以及提高对血红蛋白病的认识，有风险的夫妇将能够更好地做出明智的决定。
