Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations.
- Author:
Eui Sun SEONG
1
;
Hye Jin YOUN
;
Min Kyung PARK
;
Hye Yeon BOO
;
Bom Yi LEE
;
Hyun Mee RYU
;
You Jung HAN
Author Information
- Publication Type:Original Article
- Keywords: Genetic translocation; Prenatal ultrasonography; Prenatal diagnosis; Genetic counseling; Cytogenetic analysis
- MeSH: Amniocentesis; Chorionic Villi Sampling; Cordocentesis; Cytogenetic Analysis; Female; Fetus; Genetic Counseling; Humans; Mothers; Parents; Pregnancy; Prenatal Diagnosis; Prognosis; Translocation, Genetic; Ultrasonography*; Ultrasonography, Prenatal
- From:Journal of Genetic Medicine 2018;15(1):8-12
- CountryRepublic of Korea
- Language:English
- 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.
