Resumo

MORALES DE MACHIN, Alisandra  e  MACHIN CACERES, Enrique. Prenatal screening for aneuploidies by analysis of circulating total free deoxyribonucleic acid in maternal plasma. Narrative review. Rev Obstet Ginecol Venez [online]. 2024, vol.84, n.2, pp.185-204.  Epub 05-Out-2024. ISSN 0048-7732.  https://doi.org/10.51288/00840212.

The non-invasive prenatal test is a screening method for fetal aneuploidies and if the result is at high risk, it must be confirmed through diagnostic genetic test. It is the most sensitive and specific detection test for common fetal aneuploidies and minimizes the use of invasive techniques, only for pregnant women at high risk. Genetic counseling should be performed before and after screening. This study aims to describe the basic fundamentals of non-invasive prenatal testing by analyzing free circulating deoxyribonucleic acid in maternal plasma for aneuploidy screening, and the primary methods and advances in molecular biology, including next-generation sequencing technologies, which have facilitated it, considering its benefits and limitations when applying it in clinical practice, in this rapidly changing field.

Palavras-chave : Prenatal screening; Aneuploidy; Free fetal deoxyribonucleic acid; Advances in molecular biology; Next generation sequencing; Genetic counseling.

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