影响镰状细胞病产前诊断接受率的因素。
Factors affecting the uptake of prenatal diagnosis for sickle cell disease.
作者信息
Petrou M, Brugiatelli M, Ward R H, Modell B
机构信息
Department of Obstetrics and Gynaecology, University College and Middlesex School of Medicine, University College, London.
出版信息
J Med Genet. 1992 Nov;29(11):820-3. doi: 10.1136/jmg.29.11.820.
Between 1979 and 1990, 170 couples at risk of having children with sickle cell disease, resident in the UK and with a continuing pregnancy, were referred for counselling at the University College Hospital Perinatal Centre. Approximately 50% of the couples, including those where one partner actually had sickle cell disease, requested prenatal diagnosis. This was requested in 82% of pregnancies when the mother was seen in the first trimester of pregnancy and in 49% when she was seen in the second trimester. More than 90% of referred couples who already had an affected child requested prenatal diagnosis. The type of sickle cell disease involved and ethnic group also influenced choice. These results show the importance of detecting and counselling couples at risk before pregnancy whenever possible.
1979年至1990年间，居住在英国且持续妊娠、有生育镰状细胞病患儿风险的170对夫妇被转介到大学学院医院围产期中心接受咨询。约50%的夫妇，包括一方实际患有镰状细胞病的夫妇，要求进行产前诊断。当母亲在妊娠早期就诊时，82%的妊娠要求进行产前诊断；当母亲在妊娠中期就诊时，这一比例为49%。已有患病子女的转介夫妇中，超过90%要求进行产前诊断。所涉及的镰状细胞病类型和种族群体也会影响选择。这些结果表明，尽可能在孕前对有风险的夫妇进行检测和咨询非常重要。
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