J Genet Med.  2015 Dec;12(2):72-78. 10.5734/JGM.2015.12.2.72.

Application of digital polymerase chain reaction technology for noninvasive prenatal test

• Lee SY
• Hwang SY

• KMID: 2149848
• DOI: http://doi.org/10.5734/JGM.2015.12.2.72

Abstract

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.

Keyword

Prenatal diagnosis; Polymerase chain reaction; Noninvasive prenatal diagnosis; Aneuploidy; Chromosome aberration

MeSH Terms

Amniocentesis
Aneuploidy
Chorionic Villi Sampling
Chromosome Aberrations
DNA
Down Syndrome
Female
Mass Screening
Plasma
Polymerase Chain Reaction*
Pregnancy
Prenatal Diagnosis
DNA