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Review
. 2020 Dec 24;12(1):15.
doi: 10.3390/genes12010015.

Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Luigi Carbone  1 , Federica Cariati  2   3 , Laura Sarno  1 , Alessandro Conforti  1 , Francesca Bagnulo  3 , Ida Strina  1   3 , Lucio Pastore  2   4 , Giuseppe Maria Maruotti  1 , Carlo Alviggi  1   3   5
Affiliations
Review

Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Luigi Carbone et al. Genes (Basel). .

Abstract

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

Keywords: cell-free fetal DNA; fetal aneuploidies; fetal fraction; non-invasive prenatal testing; prenatal screening.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Non-invasive prenatal test (NIPT) analysis. CNVs: copy number variations, SNPs: single nucleotide polymorphisms.
See this image and copyright information in PMC

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