Journal of Genetic Medicine

  • 제13권2호
  • /
  • Pages.89-94
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  • 2016
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia

  • Choe, David Kwang Yong (Department of Obstetrics and Gynecology, Seoul National University College of Medicine) ;
  • Oh, Jeong Won (Department of Obstetrics and Gynecology, Seoul National University College of Medicine) ;
  • Jun, Jong Kwan (Department of Obstetrics and Gynecology, Seoul National University College of Medicine) ;
  • Choi, Young Min (Department of Obstetrics and Gynecology, Seoul National University College of Medicine)
  • 투고 : 2016.10.26
  • 심사 : 2016.12.23
  • 발행 : 2016.12.31
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초록

Purpose: Molecular genetic analysis is the main approach used for prenatal diagnosis of hemophilia A and B. However, in certain cases, such analysis is uninformative. In such situations, direct measurement of fetal coagulation factor levels is still the best option, and it may be the only option in some cases. This study was conducted to determine the normal ranges of mid-trimester cord blood factor VIII (FVIII) and IX (FIX) in a Korean population. Materials and Methods: Twenty-six FVIII samples and 29 FIX samples were assayed in fetal cord blood acquired by ultrasound-guided cordocentesis. Sampling was conducted during gestational ages of 19-24 weeks. Results: The mean and standard deviations for FVIII and FIX activity were $45.5{\pm}30.5%$ and $19.9{\pm}12.2%$, respectively. Ranges for FVIII and FIX were 1.5-125.0% and 6.0-52.0%, respectively. Conclusion: Our study revealed the normal ranges and lowest level of factor VIII and factor IX in non-affected normal fetus by fetal cord blood sampling during the mid-trimester in a Korea population. The factor assay of the fetal cord blood is invasive but feasible and provides important basic data related to hemophilia.

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참고문헌

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