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2013, Number 2

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Rev Mex Med Repro 2013; 5.6 (2)

Non-Invasive Prenatal Study for Detecting Aneuploidies by Free Fetal DNA in Maternal Blood: Description of Three Methodologies

Sánchez URA, Batista EA, Romero TS

Language: Spanish
References: 39
Page: 83-89
PDF size: 473.03 Kb.


ABSTRACT

After decades of research, the noninvasive study of prenatal detection of aneuploidy using cell-free DNA in maternal blood is a reality. Different mass sequencing methodologies are already used in clinical practice. This paper describes three methodologies able to identify fetal chromosomal abnormalities by massive sequencing and analysis of cell-free DNA in maternal blood. Massively parallel sequencing, digital analysis and technology selected regions of Parental SupportTM (PS) are accurate and reliable methods for detecting the most common chromosomal aneuploid cells, such as trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), monosomy X0 (Turner syndrome) and Klinefelter syndrome (XXY) by analysis of free fetal DNA in maternal blood. Parental SupportTM methodology provides great advantages to achieve high accuracy in identifying frequent chromosomal abnormalities (T21, T18, T13, X0 and XXY). The implementation of technologies of next-generation sequencing in the noninvasive prenatal diagnosis promises to be a screening tool for fetal aneuploidy and can be integrated into existing algorithms in prenatal care.


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