Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities

• 발행기관: 대한의학유전학회
• 저자명: SeongYeon Hong
• 간행물 정보: 『대한의학유전학회지』제11권 제2호, 49~55쪽, 전체 7쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2014.12.30

영문 초록

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.

목차

Abstract

Introduction

Sonographic Soft Markers

Meta-analysis of Second-trimester Markers for Trisomy 21

Clinical Utilization of Genetic Ultrasonography

Conclusion

References

키워드

Genetic ultrasonography Chromosome aberrations Down syndrome Soft marker