Fainaru M, Deckelbaum R, Golbus M S
Prenat Diagn. 1981 Apr;1(2):125-9. doi: 10.1002/pd.1970010207.
To examine the potential for prenatal diagnosis of genetic lipoprotein metabolic defects (e.g. abetalipoproteinemia. Tangier disease) we determined the normal concentrations of apolipoproteins (apo) A-I, A-II, B, and E in mid-trimester amniotic fluid and fetal plasma. The concentrations of apo A-I and apo A-II in amniotic fluid were 1--2 per cent of the respective levels in the mother's plasma, whereas apo B and apo E were undetectable in amniotic fluid. In contrast to amniotic fluid, all four apolipoproteins were detectable in fetal plasma, and the levels of apo A-I, apo B and apo E were in the range observed in the mothers: 160.2 +/- 103.1, 59.8 +/- 35.7 and 5.7 +/- 3.5 mg/dl respectively (mean +/- SD, n = 13). The fetal plasma level of apo A-II (28.3 +/- 12.4 mg/dl) was two-thirds that observed in the mother's plasma. The normal levels of these apolipoproteins in fetal plasma are well above the sensitivity of the methods, and their quantification requires only 10--20 microliters of fetal plasma. Determination of apolipoproteins in fetal blood obtained by fetoscopy thus may provide a method for the prenatal diagnosis of congenital apolipoprotein deficiencies.
为了研究产前诊断遗传性脂蛋白代谢缺陷（如无β脂蛋白血症、丹吉尔病）的可能性，我们测定了孕中期羊水和胎儿血浆中载脂蛋白（apo）A-I、A-II、B和E的正常浓度。羊水中apo A-I和apo A-II的浓度分别为母亲血浆中相应水平的1%-2%，而羊水中未检测到apo B和apo E。与羊水不同，胎儿血浆中可检测到所有四种载脂蛋白，且apo A-I、apo B和apo E的水平在母亲中观察到的范围内：分别为160.2±103.1、59.8±35.7和5.7±3.5 mg/dl（平均值±标准差，n = 13）。胎儿血浆中apo A-II的水平（28.3±12.4 mg/dl）为母亲血浆中观察到水平的三分之二。胎儿血浆中这些载脂蛋白的正常水平远高于检测方法的灵敏度，其定量仅需10-20微升胎儿血浆。因此，通过胎儿镜检查获取的胎儿血液中载脂蛋白的测定可能为先天性载脂蛋白缺乏症的产前诊断提供一种方法。
