Super M, Ivinson A, Schwarz M, Giles L, Elles R G, Read A P, Harris R
Clinical Genetics Unit, Royal Manchester Children's Hospital.
Lancet. 1987 Oct 3;2(8562):782-4. doi: 10.1016/s0140-6736(87)92510-4.
96 families at risk of having a child with cystic fibrosis have been counselled about prenatal diagnosis by the use of linked DNA probes. Of the first 30 pregnancies 9 children have been born and confirmed to be free from CF, as predicted; 8 pregnancies were terminated (1 of these was found to be miscarrying at time of termination); 12 pregnancies, in which the fetuses are predicted to be unaffected, are in progress; and 1 has miscarried. No couple with a prenatal prediction of CF decided to continue with the pregnancy. 1 pregnancy was terminated because of a 50:50 chance of an affected fetus. In 1 twin pregnancy the affected fetus was selectively aborted, and the other baby was confirmed after birth to be unaffected, as predicted. In the other twin pregnancy the two chorionic plates could not be samples separately; the pregnancy was continued on the basis of normal findings for the lower plate, and both twins have turned out to be normal. Many couples at risk see early prenatal diagnosis as a way to help them have an unaffected child.
已就使用连锁DNA探针进行产前诊断向96个有生育囊性纤维化患儿风险的家庭提供了咨询。在最初的30次妊娠中，有9名婴儿出生并经确认没有患囊性纤维化，正如所预测的那样；8次妊娠终止（其中1次在终止妊娠时被发现正在流产）；12次妊娠中，胎儿预计未受影响，妊娠仍在继续；1次妊娠发生了流产。没有一对产前预测胎儿患囊性纤维化的夫妇决定继续妊娠。有1次妊娠因胎儿受影响的几率为50:50而终止。在1例双胎妊娠中，受影响的胎儿被选择性流产，另一个婴儿出生后经确认未受影响，正如所预测的那样。在另一例双胎妊娠中，无法分别采集两个绒毛膜板的样本；根据较低绒毛膜板的正常检查结果继续妊娠，结果两个胎儿均正常。许多有风险的夫妇将早期产前诊断视为帮助他们生育未受影响孩子的一种方式。
