|
KMID : 1189120180150010008
|
|
대한의학유전학회지
2018 Volume.15 No. 1 p.8 ~ p.12
|
|
|
Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations
|
|
Seong Eui-Sun
Youn Hye-Jin
Park Min-Kyung
Boo Hye-Yeon
Lee Bom-Yi
Ryu Hyun-Mee
Han You-Jung
|
|
|
Abstract
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Genetic translocation, Prenatal ultrasonography, Prenatal diagnosis, Genetic counseling, Cytogenetic analysis
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|
|