Johnson J V, Hommes F A, McDonough P G, Butler W J
Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta 30912.
J Reprod Med. 1988 Feb;33(2):219-22.
Chorionic villus sampling is becoming an accepted method of prenatally diagnosing metabolic diseases. There are few published data on sampling at various gestational ages. Different investigators, using different methods of chorionic biopsy, perform the sampling at various gestational ages. Accurate interpretation of results is dependent on reliable normal values, which could differ on the basis of gestational age. The enzymatic activities of arylsulfatase A, B-glucosidase and hexosaminidases were compared in trophoblast from six-, eight- and ten-week gestations. No significant differences in activity levels were detected. This finding confirms the accuracy of metabolic diagnosis for these enzyme-deficiency syndromes in trophoblastic tissue at gestational ages of six to ten weeks without a requirement for gestational-age-specific normal values.
绒毛取样正成为产前诊断代谢性疾病的一种被认可的方法。关于不同孕周取样的已发表数据很少。不同的研究者使用不同的绒毛活检方法,在不同孕周进行取样。结果的准确解读依赖于可靠的正常值,而正常值可能因孕周不同而有所差异。对妊娠6周、8周和10周的滋养层中芳基硫酸酯酶A、β-葡萄糖苷酶和己糖胺酶的酶活性进行了比较。未检测到活性水平有显著差异。这一发现证实了在妊娠6至10周时,无需特定孕周的正常值,即可对滋养层组织中这些酶缺乏综合征进行代谢诊断的准确性。