First trimester maternal serum lysosomal enzymes: implications for carrier testing and prenatal diagnosis.

Fetal therapy Pub Date : 1989-01-01 DOI:10.1159/000263445
R A Kaufmann, A Drugan, M I Evans, D Mitchell, Y Ben-Yoseph, K S Moghissi
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Abstract

Carrier detection for lysosomal storage diseases is sometimes possible by evaluating maternal serum levels of specific enzymes. However, lysosomal enzymes (LE) can be modified by maternal hormonal changes in pregnancy or embryonic contributions. Maternal serum was obtained prospectively in the follicular phase and at 2-5 and 7-11 weeks after conception from 13 infertility patients with precisely known ovulation dates. Eleven enzyme activities were determined fluorimetrically using 4-methylumbelliferyl substrates. Using repeated measures ANOVA, alpha-N-acetyl-glucosaminidase (p less than 0.05), hexosaminidase A (p less than 0.005) and hexosaminidase A and B (p less than 0.005) increased during the first trimester, and 8 enzymes did not change significantly. Our data show differing patterns of LE in the first trimester. These may be explained by: (1) variability of maternal reaction to hormonal changes of pregnancy, or (2) variable embryonic contributions suggesting differential ontogeny and placental transfer of these enzymes. The increase in levels of the 3 specific LE in maternal serum may interfere with the accuracy of carrier testing in early pregnancy, but pregnancy should not interfere with the other 8.

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孕早期母体血清溶酶体酶:携带者检测和产前诊断的意义。
有时可以通过评估母体血清中特定酶的水平来检测溶酶体贮积病的携带者。然而,溶酶体酶(LE)可以通过妊娠期或胚胎期母体激素的变化而改变。在卵泡期和受孕后2-5周和7-11周,从13例精确确定排卵日期的不孕症患者中前瞻性地获得了母体血清。用4-甲基伞形花基底物荧光法测定了11种酶的活性。经重复测量方差分析,α - n -乙酰氨基葡萄糖酶(p < 0.05)、己糖氨基酶A (p < 0.005)、己糖氨基酶A和己糖氨基酶B (p < 0.005)在妊娠早期升高,8种酶无显著变化。我们的数据显示不同的LE模式在前三个月。这可以解释为:(1)母体对妊娠激素变化的反应的可变性,或(2)这些酶在个体发育和胎盘转移方面的不同胚胎贡献。孕妇血清中3种特异性LE水平的升高可能会影响妊娠早期携带者检测的准确性,但妊娠不应影响其他8种。
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