J Genet Med.  2015 Dec;12(2):66-71. 10.5734/JGM.2015.12.2.66.

Advantages of the single nucleotide polymorphism-based noninvasive prenatal test

• Kim K

• KMID: 2149847
• DOI: http://doi.org/10.5734/JGM.2015.12.2.66

Abstract

Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated to show that screening tests with cfDNA are more sensitive and specific than conventional maternal serum and/or ultrasound screening. Globally, more than 1,000,000 of these noninvasive prenatal tests (NIPTs) have been performed to date. There are several different methods for NIPTs that are currently commercially available, including shotgun massively parallel sequencing, targeted massively parallel sequencing, and single nucleotide polymorphism (SNP)-based methods. All of these methods have their own advantages and disadvantages. In this review, I will focus specifically on the SNP-based NIPT.

Keyword

Prenatal diagnosis; Single nucleotide polymorphism; High-throughput nucleotide sequencing; Noninvasive prenatal test; Cell free DNA

MeSH Terms

DNA
Down Syndrome
High-Throughput Nucleotide Sequencing
Mass Screening
Plasma
Polymorphism, Single Nucleotide
Prenatal Diagnosis
Ultrasonography
DNA