Horn N
Prenat Diagn. 1981 Apr;1(2):107-20. doi: 10.1002/pd.1970010205.
Menkes X-linked disease, a copper disturbance syndrome, is detectable in cell cultures. Prenatal findings in two at-risk foetuses suggested that prenatal diagnosis was also feasible. In this study, we report substantial evidence that therapeutic abortion can be limited to hemizygous males. Forty-two at-risk pregnancies from 21 European families and 1 Canadian family were monitored with 64Cu-uptake into cultured amniotic fluid cells. In 10 pregnancies with a male karyotype an affected foetus was predicted on the basis of the copper studies. The pregnancies were terminated and the diagnosis was in each case confirmed by a markedly increased placenta copper content. Fourteen male foetuses were predicted to be unaffected and none of them has developed signs of Menkes disease after birth. In 6 of these cases the diagnosis was checked in the newborn boy by placenta copper measurements, and they all had copper concentrations within normal limits. Eighteen pregnancies with a female karyotype were also studied, 9 females could be identified as carriers on the basis of the tissue culture studies or raised placenta copper values.
门克斯X连锁病是一种铜代谢紊乱综合征，可在细胞培养中检测到。对两个高危胎儿的产前检查结果表明，产前诊断也是可行的。在本研究中，我们报告了大量证据表明，治疗性流产可仅限于半合子男性。对来自21个欧洲家庭和1个加拿大家庭的42例高危妊娠进行了监测，通过测量培养的羊水细胞对64Cu的摄取情况来进行。在10例男性核型的妊娠中，根据铜研究预测胎儿患病。这些妊娠均已终止，且每例诊断均通过胎盘铜含量显著升高得到证实。预测有14例男性胎儿未受影响，且出生后均未出现门克斯病的体征。在其中6例病例中，通过测量新生儿胎盘铜含量对诊断进行了检查，结果显示他们的铜浓度均在正常范围内。还对18例女性核型的妊娠进行了研究，其中9例女性可根据组织培养研究结果或胎盘铜值升高被确定为携带者。
