학술논문
Application of digital polymerase chain reaction technology for noninvasive prenatal test
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- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Seung Yong Lee Seung Yong Hwang
- 간행물 정보
- 『대한의학유전학회지』제12권 제2호, 72~78쪽, 전체 7쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2015.12.31
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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
Recently, noninvasive prenatal test (NIPT) has been adopted as a primary screening tool for fetal chromosomal aneuploidy.
The principle of NIPT lies in isolating the fetal fraction of cell-free DNA in maternal plasma and analyzing it with bioinformatic tools to measure the amount of gene from the target chromosome, such as chromosomes 21, 18, and 13. NIPT will contribute to decreasing the need for unnecessary invasive procedures, including amniocentesis and chorionic villi sampling, for confirming fetal aneuploidy because of its higher positive predictive value than that of the conventional prenatal screening method. However, its greater cost than that of the current antenatal screening protocol may be an obstacle to the adoption of this innovative technique in clinical practice. Digital polymerase chain reaction (dPCR) is a novel approach for detecting and quantifying nucleic acid. dPCR provides real-time diagnostic advantages with higher sensitivity, accuracy, and absolute quantification than conventional quantitative PCR. Since the groundbreaking discovery that fetal cell-free nucleic acid exists in maternal plasma was reported, dPCR has been used for the quantification of fetal DNA and for screening for fetal aneuploidy.
It has been suggested that dPCR will decrease the cost by targeting specific sequences in the target chromosome, and dPCRbased noninvasive testing will facilitate progress toward the implementation of a noninvasive approach for screening for trisomy 21, 18, and 13. In this review, we highlight the principle of dPCR and discuss its future implications in clinical practice.
목차
키워드
해당간행물 수록 논문
- Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination
- Application of digital polymerase chain reaction technology for noninvasive prenatal test
- Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX
- Observed frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women older than 34 years at delivery
- Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication
- Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAtargeted next-generation sequencing
- Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cellfree fetal DNA in maternal plasma
- Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea
- Advantages of the single nucleotide polymorphismbased noninvasive prenatal test
- Evaluating the results of the Momguard noninvasive prenatal test
- Whole genome sequencing based noninvasive prenatal test
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