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血浆中胎儿凝血因子VIIIC和IX的检测用于血友病的产前诊断。

Plasma assay of fetal factors VIIIC and IX for prenatal diagnosis of haemophilia.

作者信息

Mibashan R S, Rodeck C H, Thumpston J K, Edwards R J, Singer J D, White J M, Campbell S

出版信息

Lancet. 1979 Jun 23;1(8130):1309-11. doi: 10.1016/s0140-6736(79)91946-9.

DOI:10.1016/s0140-6736(79)91946-9
PMID:87775
Abstract

Fetal blood unmixed with maternal blood or amniotic fluid was obtained by direct-vision fetoscopy in 22 consecutive cases at 15--22 weeks' gestation; the investigation was done either for prenatal diagnosis or before therapeutic abortion. Fetal plasma factors VIIIC and IX averaged 50 I.U./dl (S.D. 12.8) and 12.5 I.U./dl (S.D. 2.4), respectively. Two male fetuses at risk of haemophilia had normal factor VIIIC levels by these criteria, and both pregnancies ended in the birth of a normal boy. Five others gave 3 normal and 2 haemophilic results, which were confirmed in two of the three terminated pregnancies.

摘要

在妊娠15 - 22周的22例连续病例中,通过直视胎儿镜获取未与母体血液或羊水混合的胎儿血液;该研究是为了进行产前诊断或在治疗性流产前进行。胎儿血浆因子VIIIC和IX的平均水平分别为50国际单位/分升(标准差12.8)和12.5国际单位/分升(标准差2.4)。根据这些标准,两名有血友病风险的男性胎儿的因子VIIIC水平正常,且两次妊娠均以正常男婴出生告终。另外五例中,有3例结果正常,2例为血友病结果,在3例终止妊娠的病例中有2例得到证实。

相似文献

1
Plasma assay of fetal factors VIIIC and IX for prenatal diagnosis of haemophilia.血浆中胎儿凝血因子VIIIC和IX的检测用于血友病的产前诊断。
Lancet. 1979 Jun 23;1(8130):1309-11. doi: 10.1016/s0140-6736(79)91946-9.
2
Dual diagnosis of prenatal haemophilia A by measurement of fetal factor VIIIC and VIIIC antigen (VIIICAg).通过检测胎儿因子VIIIC和VIIIC抗原(VIIICAg)对产前甲型血友病进行双重诊断。
Lancet. 1980 Nov 8;2(8202):994-7. doi: 10.1016/s0140-6736(80)92155-8.
3
Prenatal diagnosis of haemophilia.血友病的产前诊断
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4
Fetal factor VIII and IX levels in early pregnancy and their significance in prenatal diagnosis.孕早期胎儿凝血因子VIII和IX水平及其在产前诊断中的意义。
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Factor IX and prothrombin in amniotic fluid and fetal plasma: constraints on prenatal diagnosis of hemophilia B and evidence of proteolysis.羊水和胎儿血浆中的凝血因子IX和凝血酶原:对B型血友病产前诊断的限制及蛋白水解证据
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Prenatal diagnosis of classic hemophilia (hemophilia A) by immunoradiometric assays.采用免疫放射分析法定量诊断典型血友病(甲型血友病)的产前诊断方法。
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引用本文的文献

1
A Practical Guide to the Management of the Fetus and Newborn With Hemophilia.《血友病胎儿与新生儿管理实用指南》
Clin Appl Thromb Hemost. 2018 Dec;24(9_suppl):29S-41S. doi: 10.1177/1076029618807583. Epub 2018 Oct 29.
2
Value of fetoscopy in prenatal diagnosis.胎儿镜检查在产前诊断中的价值。
J R Soc Med. 1980 Jan;73(1):29-33.
3
Genetic counselling in haemophilia by discriminant analysis 1975-1980.1975 - 1980年血友病遗传咨询的判别分析
J Med Genet. 1982 Feb;19(1):26-34. doi: 10.1136/jmg.19.1.26.
4
Recent advances in haematology.血液学的最新进展。
Postgrad Med J. 1981 Mar;57(665):139-49. doi: 10.1136/pgmj.57.665.139.
5
The clinical relevance of factor VIII: C and factor VII R: Ag determination in newborns.
Eur J Pediatr. 1981 Oct;137(2):189-94. doi: 10.1007/BF00441315.
6
Prenatal diagnosis of disease.疾病的产前诊断。
J R Coll Physicians Lond. 1980 Apr;14(2):100-5.
7
Application of an intragenic genomic probe to genetic counselling for haemophilia B in the west of Scotland.基因内基因组探针在苏格兰西部血友病B遗传咨询中的应用。
J Med Genet. 1985 Dec;22(6):441-6. doi: 10.1136/jmg.22.6.441.
8
First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13.孕早期使用连锁DNA探针DX13对甲型血友病携带者进行产前诊断和检测。
Br Med J (Clin Res Ed). 1985 Sep 21;291(6498):765-9. doi: 10.1136/bmj.291.6498.765.
9
Haemophilia A: carrier detection and prenatal diagnosis by linkage analysis using DNA polymorphism.甲型血友病:利用DNA多态性通过连锁分析进行携带者检测和产前诊断。
J Clin Pathol. 1987 Sep;40(9):971-7. doi: 10.1136/jcp.40.9.971.
10
[New possibilities of heterozygote detection of hemophilia A].
Klin Wochenschr. 1987 Jan 15;65(2):92-6. doi: 10.1007/BF01745483.