Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

• 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: PDF
• 발행일자: 2018.06.30

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

Genetic translocation Prenatal ultrasonography Prenatal diagnosis Genetic counseling Cytogenetic analysis