Hayden M R, Hewitt J, Kastelein J J, Langlois S, Wilson R D, Fox S, Hilbert C, Bloch M
Lancet. 1987 Jun 6;1(8545):1284-5. doi: 10.1016/s0140-6736(87)90542-3.
Polymorphic DNA probes linked to the locus for Huntington disease (HD) were used for prenatal diagnosis of a 10-week fetus at 25% risk for the disease. The fetus proved to have a 48% risk of having inherited the HD mutation which was similar to that for the at-risk parent (50%). On this basis the parents elected to terminate the pregnancy. When appropriate family members are available and DNA studies are informative, prenatal diagnosis of HD with polymorphic DNA probes can determine the at-risk status of the fetus with 96% accuracy.
与亨廷顿病（HD）基因座相连的多态性DNA探针被用于对一名患该病风险为25%的10周龄胎儿进行产前诊断。结果证明，该胎儿继承HD突变的风险为48%，这与有患病风险的父母一方（50%）相似。基于此，父母选择终止妊娠。当有合适的家庭成员且DNA研究有参考价值时，使用多态性DNA探针进行HD的产前诊断能够以96%的准确率确定胎儿的患病风险状况。
