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孕早期代谢疾病的产前诊断：欧洲共同体国家的一项调查

First trimester prenatal diagnosis of metabolic diseases: a survey in countries from the European community.

作者信息

Poenaru L

出版信息

Prenat Diagn. 1987 Jun;7(5):333-41. doi: 10.1002/pd.1970070507.

DOI:10.1002/pd.1970070507
PMID:3615359
Abstract

This paper presents the collected data concerning First Trimester Prenatal Diagnosis of Metabolic Diseases performed in different countries of the European Community by enzymatic methods using chorionic villi. In all, 258 diagnoses were made for 38 different metabolic diseases and 56 (22 per cent) affected fetuses have been detected. Several difficulties were encountered with regard to chorionic villus material or enzyme expression in this tissue. We stress the conditions necessary for avoiding errors in diagnosis.

摘要

本文介绍了通过使用绒毛膜绒毛的酶法在欧洲共同体不同国家进行的孕早期代谢疾病产前诊断所收集的数据。总共对38种不同的代谢疾病进行了258次诊断，检测出56例（22%）受影响胎儿。在绒毛膜绒毛材料或该组织中的酶表达方面遇到了一些困难。我们强调避免诊断错误所需的条件。

相似文献

1
First trimester prenatal diagnosis of metabolic diseases: a survey in countries from the European community.孕早期代谢疾病的产前诊断：欧洲共同体国家的一项调查
Prenat Diagn. 1987 Jun;7(5):333-41. doi: 10.1002/pd.1970070507.
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First trimester diagnosis of inherited metabolic disease: experience in the UK.孕早期遗传性代谢疾病的诊断：英国的经验
J Inherit Metab Dis. 1991;14(2):128-33. doi: 10.1007/BF01800583.
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Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy.妊娠9周前获取的绒毛膜绒毛的代谢性疾病的产前诊断。
Prenat Diagn. 1992 Nov;12(11):959-63. doi: 10.1002/pd.1970121117.
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First-trimester diagnosis of genetic metabolic disorders.孕早期遗传性代谢疾病的诊断
Contrib Gynecol Obstet. 1986;15:80-9.
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First-trimester diagnosis of Krabbe's disease by direct enzyme analysis of chorionic villi.
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Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.
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Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture.培养的绒毛膜绒毛和胚胎细胞中的溶酶体水解酶活性。
Hum Genet. 1985;69(4):378-9. doi: 10.1007/BF00291659.
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First-trimester diagnosis on chorionic villi obtained by direct vision technique.
Hum Genet. 1984;65(4):373-6. doi: 10.1007/BF00291562.
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Multiple sulphatase deficiency: prenatal diagnosis using chorionic villi.多种硫酸酯酶缺乏症：利用绒毛膜绒毛进行产前诊断
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Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi.通过直接检测绒毛膜绒毛中的精氨琥珀酸合成酶在妊娠早期排除瓜氨酸血症。
Prenat Diagn. 1985 Jul-Aug;5(4):299-301. doi: 10.1002/pd.1970050410.

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J Inherit Metab Dis. 1993;16(2):473-83. doi: 10.1007/BF00710300.
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Prenatal diagnosis of inherited metabolic disease by chorionic villus analysis: the Edinburgh experience.
J Inherit Metab Dis. 1989;12 Suppl 2:263-6. doi: 10.1007/BF03335393.
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Chorionic villus sampling: diagnostic uses and limitations of enzyme assays.绒毛取样：酶测定的诊断用途及局限性
J Inherit Metab Dis. 1989;12 Suppl 1:105-17. doi: 10.1007/BF01799290.
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Prenatal diagnosis of enzyme defects.酶缺陷的产前诊断
Arch Dis Child. 1990 Jan;65(1 Spec No):59-67. doi: 10.1136/adc.65.1_spec_no.59.
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First trimester diagnosis of inherited metabolic disease: experience in the UK.孕早期遗传性代谢疾病的诊断：英国的经验
J Inherit Metab Dis. 1991;14(2):128-33. doi: 10.1007/BF01800583.