학술논문
Clinical application of prenatal chromosomal microarray
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- 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
- 발행일자
- 2022.12.31
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이 학술논문 정보는 (주)교보문고와 각 발행기관 사이에 저작물 이용 계약이 체결된 것으로, 교보문고를 통해 제공되고 있습니다.
국문 초록
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
해당간행물 수록 논문
- Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome
- The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in NR5A1
- Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women
- Mitophagy stimulation as a novel strategy for the treatment of mitochondrial diseases
- Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome
- Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency
- The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism
- Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
- SLC9A6 -related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A case report
- Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment
- Clinical application of prenatal chromosomal microarray
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