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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 72 - 78 (7page)
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초록· 키워드
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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 dPCR-based 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.
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참고문헌 (40)
참고문헌 신청
Bili C / 2002 / Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR / Prenat Diagn 22:360~365
Tepperberg J / 2001 / Prenatal diagnosis using interphase fluorescence in situ hybridization(FISH) : 2-year multi-center retrospective study and review of the literature / Prenat Diagn 21:293~301
Cuckle HS / 1999 / Appropriate biochemical parameters in firsttrimester screening for Down syndrome / Prenat Diagn 19:505~512
Hayes A / 1993 / Down syndrome / Pediatr Clin North Am 40:523~535
Bianchi D / 2004 / Prenatal diagnosis using cell-free fetal DNA in amniotic fluid / US 10/577,341
Tepperberg J / 2001 / Prenatal diagnosis using interphase fluorescence in situ hybridization(FISH) : 2-year multi-center retrospective study and review of the literature / Prenat Diagn 21:293~301
Cuckle HS / 1999 / Appropriate biochemical parameters in firsttrimester screening for Down syndrome / Prenat Diagn 19:505~512
Hayes A / 1993 / Down syndrome / Pediatr Clin North Am 40:523~535
Bianchi D / 2004 / Prenatal diagnosis using cell-free fetal DNA in amniotic fluid / US 10/577,341
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