Bellingham A J, Lestas A N, Williams L H, Nicolaides K H
Department of Haematological Medicine, King's College School of Medicine and Dentistry, London.
Lancet. 1989 Aug 19;2(8660):419-21. doi: 10.1016/s0140-6736(89)90593-x.
A child with triose phosphate isomerase deficiency was born to nonconsanguineous parents, and died at 13 months of age. The parents were both found to be heterozygous for this enzyme deficiency. At a subsequent pregnancy, analysis of fetal red blood cells obtained by cordocentesis at 19 weeks' gestation enabled prenatal diagnosis of the heterozygous state. This technique may allow diagnosis of other red-cell enzymopathies during the second trimester.
一名患有磷酸丙糖异构酶缺乏症的儿童由非近亲父母所生，并于13个月大时死亡。父母双方均被发现为这种酶缺乏症的杂合子。在随后的一次怀孕中，对妊娠19周时通过脐带穿刺获取的胎儿红细胞进行分析，得以对杂合子状态进行产前诊断。这项技术可能有助于在孕中期诊断其他红细胞酶病。
