학술논문
Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations
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- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Eui Sun Seong Hye Jin Youn Min Kyung Park Hye Yeon Boo Bom Yi Lee Hyun Mee Ryu You Jung Han
- 간행물 정보
- 『대한의학유전학회지』제15권 제1호, 8~12쪽, 전체 5쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2018.06.30
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국문 초록
영문 초록
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.
목차
Introduction
Materials and Methods
Results
Discussion
Acknowledgements
키워드
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