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The Clinical Application of Fetal Cord Blood FⅧ: C Detecting Combining with Gene Test in HA’s Prenatal Diagnosis

Author: ZhangYan
Tutor: WangXieTong
School: Shandong University
Course: Obstetrics and Gynaecology
Keywords: Fetal blood F Ⅷ: C Genetic testing Hemophilia Prenatal diagnosis Clinical application
CLC: R714.5
Type: Master's thesis
Year: 2009
Downloads: 93
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Abstract

Objective: hemophilia clotting factor VIII (coagulation factor VIII F8) genetic defects or lack, resulting in bleeding disorders clotting live enzymes generated obstacles. This is a common X-linked recessive genetic disease, the disease is mainly women pass, male disease, more common atavistic. Hemophilia is caused by gene mutations, and 22 introns inversion is most concentrated in the F8 gene mutation, accounting for 40% of severe hemophilia -50%, so within F Ⅷ gene intron 22 inversion analysis as the test of choice for severe hemophilia, is currently used for the clinical diagnosis of direct genetic testing methods. The hemophilia A fetus clotting factor VIII synthesis disorders, fetal cord blood coagulation factor Ⅷ significantly lower than normal, and the detection of prenatal diagnosis of high-risk fetal cord blood factor VIII reliability needs further evaluation. Of this experiment is to investigate the fetal umbilical vein F VIII: C detection combined genetic diagnosis of hemophilia risk of fetal prenatal diagnosis of clinical feasibility. Research methods: an object of study selected from the line in Shandong Provincial Hospital from October 1996 to October 2008, 79 cases of prenatal diagnosis of hemophilia A high-risk pregnant women between 20-35 weeks of pregnancy 2 Experimental methods for the study 2.1 samples were collected for 79 cases of hemophilia-risk pregnant women between 20-35 weeks of the B-line checks to verify the gestational age and to determine the fetus to a baby boy, abdominal B ultrasound guided puncture of fetal umbilical vein blood surgery. Fetal umbilical vein 3 mL After centrifugation plasma send Shandong Blood Center, 5 mL peripheral blood of high-risk pregnant women to join the appropriate dose of EDTA-plasma after centrifugation for inspection at the same time. -20 ℃ short-term cryopreservation of fetal and maternal blood cells after centrifugation spare. 2.2 Experimental methods, respectively, application of one and ELISA determination of F Ⅷ: C and of vWF: Ag, for almost a year, F VIII: C <10% of the fetal blood (n = 6) using LD-PCR detection of intron 22 inverted bit, Application LD-PCR for inversions positive fetus mother detect inversions carriers; For non-inverted fetus and its mother application of direct gene sequencing method to detect gene mutation. Results: 79 cases of pregnant women, blood F VIII: C% and 52-139%, with an average (99.60 ± 28.10)%. Fetal blood F VIII: C% <10% in 23 cases, an average of (2.64 ± 1.92)%, both induction of labor; including eight cases of fetal blood F VIII: C <1% (severe hemophilia fetus), 15 cases of fetal blood F VIII: C > 1% (light and medium the hemophilia fetus). Fetal blood F VIII: C 10% -30% and 12 patients (19.78 ± 6.71)%, 5 Li induction of labor, seven cases to continue the pregnancy. There are 44 cases of F VIII: C> 30%, the average (58.60 ± 12.12)%, to continue the pregnancy, all 51 cases of non-induced labor by postnatal follow-up has not yet found an exception. All pregnant women and fetal blood vWF were within the normal range. Line gene diagnosed six cases of fetal blood F VIII: C <10%, the cases F Ⅷ: C> 1%, 3 cases of F Ⅷ: C <1%. We censorship mixed with a small amount of amniotic fluid 2ml cord blood and amniotic fluid mixed with 2ml cord blood detected F VIII: C, mixed with a very small amount of amniotic fluid had no effect on the results The results are displayed in the umbilical cord blood puncture procedure. Conclusion: The application of fetal blood F VIII: C and vWF: Ag concentrations were measured hemophilia A high-risk pregnant women for prenatal diagnosis, combined with technical accuracy of hemophilia intron 22 inversion by LD-PCR diagnosis of prenatal diagnosis and carriers, but gene sequencing to detect mutations sites still need to be further carried out experimental research. Meaning: fetal blood F VIII: C detect prenatal diagnosis can prevent the birth of children with hemophilia A, F VIII gene mutation detection can further determine the accuracy of the serological examination of F Ⅷ: C, diagnosed carriers for Influenza hemophilia pedigree genetic counseling, prenatal diagnosis and reduce unnecessary invasive prenatal diagnosis to reduce the economic and psychological burden of families with hemophilia, has important application value and social benefits.

The Clinical Application of Fetal Cord Blood FⅧ: C Detecting Combining with Gene Test in HA’s Prenatal Diagnosis

Abstract

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