Clinical application of prenatal chromosomal microarray

• 영문명: Clinical application of prenatal chromosomal microarray
• 발행기관: 대한의학유전학회
• 저자명: Chang Ahn Seol
• 간행물 정보: 『대한의학유전학회지』제19권 제2호, 43~48쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2022.12.31

영문 초록

A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultra-sonography. As it can overcome the limitations of conventional karyotyping, it is expected that the number of prenatal CMA test requests will gradually increase. However, given the specificity of prenatal diagnosis, there are practical considerations compared to postnatal testing, such as the validation of prenatal specimens, maternal cell contamination, precautions when reporting variants of uncertain significance, and the need for comprehensive genetic counseling considering secondary find-ings. The purpose of this article is to provide necessary information to health care providers in consideration of these issues and to provide appropriate genetic counseling to patients.

목차

Introduction

Guidelines for CMA

Recommendations after the Positive Non-Invasive Prenatal test (NIPT)

Selection of the Platform for Prenatal CMA

Assessment of Quality Control (QC) Metrics and CNV Identification

Interpretation of Prenatal CMA Results and Genetic Counseling

Validation of Prenatal Specimens and Back-Up Culture

MCC and Mosaicism

Conclusion

References

키워드

DNA Microarray Prenatal diagnosis Practice guideline Genetic counseling