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2019, Number 2

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Rev Mex Patol Clin Med Lab 2019; 66 (2)

Non-invasive prenatal diagnosis of fetal aneuploidia in maternal blood

Zamora PA

Language: Spanish
References: 13
Page: 74-80
PDF size: 319.47 Kb.


ABSTRACT

The term aneuploidy refers to the change in the chromosomal number of a cell. It is currently known that 50% of spontaneous abortions are due to undetected chromosomal abnormalities. The proportion of pregnancies in women 35 years of age or older has increased from approximately 5% to more than 15%; therefore, the frequency of products born with some aneuploidy has also increased. Traditionally the diagnosis of these alterations has been made with the use of the karyotype, simple or combined screening, or with invasive techniques such as amniocentesis, which results in risk of fetal loss. The new non-invasive diagnostic techniques are performed with a blood sample from the mother, without the risk of invasive techniques. The identification of fetal free DNA through mass sequencing is emerging as the safest and most reliable method, due to its high sensitivity, specificity and negative predictive value.


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