Combination of fetal cord blood coagulation factor Ⅷ activity assessment with gene sequencing in prenatal diagnosis of hemophilia A
10.3760/cma.j.issn.1007-9408.2010.05.012
- VernacularTitle:胎儿脐静脉血凝血因子Ⅷ活性检测联合基因测序在甲型血友病产前诊断中的应用
- Author:
Yan ZHANG
;
Xietong WANG
;
Hongyan LI
;
Xueqin ZHANG
- Publication Type:Journal Article
- Keywords:
Hemophilia A;
Prenatal diagnosis;
Factor Ⅷ;
Fetal blood
- From:
Chinese Journal of Perinatal Medicine
2010;13(5):394-397
- CountryChina
- Language:Chinese
-
Abstract:
Objective To evaluate the assessment of fetal cord blood coagulation factor Ⅷ activity ( Ⅷ: C) combined with gene sequencing in prenatal diagnosis of high-risk fetuses of hemophilia A(HA). Methods Percutaneous umbilical blood sampling was performed in 79 pregnant woman with high risk of HA and male fetuses at 20-35 weeks of gestation and maternal peripheral blood was also taken. The plasma F Ⅷ: C was detected by one-stage method, and the concentration of von Willebrand factor antigen(vWF: Ag) was determined by ELISA. Long distance polymerase chain reaction(LD-PCR) was used in 6 fetuses to detect the intron 22 inversion in F8 gene, and LD-PCR was also applied for mothers with fetal carriers of intron 22 inversion and gene sequencing for those mother with fetuses without intron 22 inversion. Results The maternal concentration of FⅧ: C of these 79 women was 52%-139% with an average of (99.60±28. 10)%. For the fetuses, 23 were below 10%with an average of (2. 64±1.92)%, eight of which were ＜1% and 15 between 1% and 10%. Among the 12 fetuses with the concentration of FⅧ :C at 10%-30%, averagely (19. 78±6.71)%, five were induced and the rest seven pregnancies and the other 44 pregnancies with fetal FⅧ :C over 30%,average (58. 60± 12.12)%, were continued. All of the above 51 fetuses were followed up after birth without any abnormalities till present. Genetic diagnosis was offered for 6 fetuses, whose F Ⅷ: C concentration ＜ 10 % (three ＞ 1% and the other three ＜ 1% ), and intron 22 inversion was detected in two and no mutation was found among the rest four. Conclusions Fetal blood FⅧ: C and vWF: Ag concentrations determination may offer prenatal diagnosis of HA, and is accurate in detecting HA intron 22 inversion and its carriers when combined with LD-PCR.
