Hui Pui Wah, Lam Yung Hang, Chen Min, Tang Mary Hoi Yin, Yeung William Shu Biu, Ng Ernest Hung Yu, Ho Pak Chung
Department of Obstetrics and Gynaecology, The University of Hong Kong, Tsan Yuk Hospital, Queen Mary Hospital, Hong Kong, People's Republic of China.
Prenat Diagn. 2002 Jun;22(6):508-11. doi: 10.1002/pd.387.
The aim of the study was to assess whether preimplantation genetic diagnosis (PGD) was an acceptable alternative to prenatal diagnosis in couples at risk of giving birth to a child with alpha- or beta-thalassaemia in an Asian population.
An information leaflet was distributed to the women at risk. They were asked to complete a questionnaire after having an interview with a designated investigator.
A total of 141 valid questionnaires were analysed; 82.3% of the women considered PGD either the same or better than conventional prenatal diagnosis. Women with an affected child or a subfertility problem were more willing to accept PGD and to undergo this procedure in their future pregnancies. Their main concern about PGD was damage to the embryo during the PGD procedure. The most important perceived advantage of PGD was avoidance of termination of an affected pregnancy.
PGD is an acceptable alternative to conventional prenatal diagnosis in women at risk of giving birth to a child with alpha- or beta-thalassaemia in an Asian population. This is particularly true in women with a subfertility problem and in women who already have an affected child.
本研究旨在评估在亚洲人群中，对于有生育α或β地中海贫血患儿风险的夫妇而言，胚胎植入前遗传学诊断（PGD）是否是产前诊断的可接受替代方法。
向有风险的女性发放信息传单。在与指定调查员面谈后，要求她们填写一份问卷。
共分析了141份有效问卷；82.3%的女性认为PGD与传统产前诊断相同或更好。有患病子女或存在生育问题的女性更愿意接受PGD，并愿意在未来妊娠中接受该程序。她们对PGD的主要担忧是PGD过程中对胚胎的损害。PGD最主要的明显优势是避免终止受影响的妊娠。
在亚洲人群中，对于有生育α或β地中海贫血患儿风险的女性，PGD是传统产前诊断的可接受替代方法。对于有生育问题的女性以及已有患病子女的女性尤其如此。
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