• Journal of Genetic Medicine
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• 제13권2호
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• pp.89-94
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• 2016

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.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.8-12
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• 2018

Purpose: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. Materials and Methods: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. Results: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. Conclusion: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.80-83
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• 2007

고리염색체(Ring chromosome)는 매우 낮은 빈도로 발견되는 염색체 이상으로 모든 번호에서 보고되고 있으며 특히 끝곁 매듭 염색체(acrocentric chromosome)에서 빈번하게 관찰 된다. 본 증례는 ring chromosome(고리염색체)11의 산전진단에 관한 것이다. 산모는 36세의 여성으로 모체혈청검사에서 에드워드 증후군의 표시인자가 증가되어, 태아의 염색체 검사를 위해 임신 19.5주에 양수천자술을 시행하였다. 결과는 46,XX,r(11)[65]/45,XX,-11[16]/46,XX[34]로 고리염색체(ring chromosome) 11이 mosaic으로 관찰되었다. 혈액을 이용한 부모 염색체 검사는 모두 정상이었다. 임신 20주에 실시된 정밀초음파 검사에서는 자궁내성장장애(IUGR) 소견을 보였다. 모자익시즘의 확인을 위해 임신 22주에 재대 혈액을 이용한 두번째 염색체 검사 결과는 46,XX,r(11)(p15.5q24.2)[229]/45,XX,-11 [15]이었으며 첫번째 검사에서 관찰되지 않았던 다양한 형태의 고리염색체(ring chromosome)가 소수의 세포에서 관찰되었다. 고리염색체(ring chromosome)11에 대한 FISH 검사에서는 11 염색체의 장완과 11 염색체의 단완의 subtelomeric 부위가 결실되어 있었다.