遗传性疾病的产前检测。

Prenatal detection of inherited disorders.

作者信息

Dwivedi C

出版信息

J Natl Med Assoc. 1981 Mar;73(3):223-7.

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2609809/

Abstract

The following is a review of current concepts of prenatal detection. Transabdominal amniocentesis is recognized to be an integral adjunct to prenatal care. The analysis of cultured amniotic fluid cells collected at about 16 weeks of gestation provides in utero diagnosis of nearly all chromosomal aberration syndromes, several metabolic disorders which are due to a specific enzymic deficiency due to single gene disorders, and some multifactorial disorders, such as prenatal diagnosis of neural tube defects by estimation of alphafeto protein in amniotic fluid. Various aspects of amniocentesis are discussed.

摘要

以下是对当前产前检测概念的综述。经腹羊膜穿刺术被认为是产前护理中不可或缺的辅助手段。对妊娠约16周时采集的羊水细胞进行培养分析，可为几乎所有染色体畸变综合征、几种由单基因疾病导致的特定酶缺乏引起的代谢紊乱以及一些多因素疾病提供宫内诊断，比如通过测定羊水中的甲胎蛋白对神经管缺陷进行产前诊断。本文将讨论羊膜穿刺术的各个方面。

相似文献

1

Prenatal detection of inherited disorders.遗传性疾病的产前检测。

J Natl Med Assoc. 1981 Mar;73(3):223-7.

2

Present status of amniocentesis in intrauterine diagnosis of genetic defects.羊膜穿刺术在宫内诊断遗传缺陷中的现状。

Obstet Gynecol. 1971 Nov;38(5):789-99.

3

[Prenatal diagnosis of genetic diseases. Apropos of 1061 early amniocenteses].

J Genet Hum. 1980 Sep;28(3):233-8.

4

[Report on 8 years' experience in prenatal diagnosis of genetic defects. I. Indications and methods].[8年遗传缺陷产前诊断经验报告。I. 适应症与方法]

Zentralbl Gynakol. 1983;105(23):1481-98.

5

Prenatal diagnosis of genetic diseases.遗传性疾病的产前诊断。

Compr Ther. 1980 Dec;6(12):66-76.

6

Prenatal detection of genetic defects.产前基因缺陷检测。

Adv Pediatr. 1976;22:1-81.

7

Prenatal diagnosis of genetic disease.遗传性疾病的产前诊断。

Adv Pathobiol. 1976(3):87-94.

8

Antenatal diagnosis: limitations and future prospects.产前诊断：局限性与未来前景

Birth Defects Orig Artic Ser. 1974;10(10):289-96.

9

Prenatal diagnosis of genetic disorders.遗传性疾病的产前诊断。

J Med Genet. 1976 Jun;13(3):182-94. doi: 10.1136/jmg.13.3.182.

10

The use of prenatal diagnosis in genetic counseling.

Ala J Med Sci. 1973 Oct;10(4):373-6.

本文引用的文献

1

Sites of serum alpha-fetoprotein synthesis in the human and in the rat.人类和大鼠血清甲胎蛋白的合成部位

J Clin Invest. 1967 Jun;46(6):1010-6. doi: 10.1172/JCI105590.

2

Antenatal analysis of the human chromosomes.人类染色体的产前分析。

Am J Obstet Gynecol. 1966 Feb 15;94(4):589-90. doi: 10.1016/0002-9378(66)90068-8.

3

Amniocentesis in genetic counseling. Safety and reliability in early pregnancy.

Am J Obstet Gynecol. 1971 Mar 1;109(5):765-70. doi: 10.1016/0002-9378(71)90762-9.

4

Genetic basis for clinical dosorders.临床疾病的遗传基础。

South Med J. 1971 Feb;64:Suppl1:4-5. doi: 10.1097/00007611-197102001-00003.

5

Synthesis of serum albumin, prealbumin, alpha-foetoprotein, alpha-1-antitrypsin and transferrin by the human yolk sac.人卵黄囊合成血清白蛋白、前白蛋白、甲胎蛋白、α1-抗胰蛋白酶及转铁蛋白。

Nature. 1970 Dec 5;228(5275):995-7. doi: 10.1038/228995a0.

6

Composition of amniotic fluid.羊水的成分。

Clin Obstet Gynecol. 1966 Jun;9(2):440-8. doi: 10.1097/00003081-196606000-00012.

7

Indications for amniocentesis in the early prenatal detection of genetic disorders.羊膜穿刺术在遗传性疾病早期产前检测中的适应症。

Birth Defects Orig Artic Ser. 1971 Apr;7(5):5-9.

8

Pregnancy characteristics of intrauterine growth retardation.宫内生长受限的妊娠特征。

Obstet Gynecol. 1974 Jul;44(1):122-6.

9

Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases.遗传性疾病的产前诊断。600例病例的经验分析。

JAMA. 1974 Oct 14;230(2):232-5.

10

The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects.甲胎蛋白在神经管缺陷产前诊断中的价值。

J Pediatr. 1974 Jun;84(6):889-93. doi: 10.1016/s0022-3476(74)80776-6.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。