- Author:
David Kwang Yong CHOE
1
;
Jeong Won OH
;
Jong Kwan JUN
;
Young Min CHOI
Author Information
- Publication Type:Original Article
- Keywords: Hemophilia; Blood coagulation factors; Cordocentesis; Prenatal diagnosis
- MeSH: Blood Coagulation Factors; Cordocentesis; Factor IX; Factor VIII*; Female; Fetal Blood*; Fetus*; Gestational Age; Hemophilia A*; Humans; Korea; Molecular Biology; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Reference Values
- From:Journal of Genetic Medicine 2016;13(2):89-94
- CountryRepublic of Korea
- Language:English
- Abstract: 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 midtrimester 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±30.5% and 19.9±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.